#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDHGA4	56111	broad.mit.edu	37	5	140734776	140734776	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:140734776G>A	ENST00000571252.1	+	1	9	c.9G>A	c.(7-9)gcG>gcA	p.A3A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	3					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGCGGCGCCTCCTGCTC	0.602																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(7-9)gcG>gcA									21.0	27.0	25.0					5																	140734776		1898	4126	6024	SO:0001819	synonymous_variant	56111							g.chr5:140734776G>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.9G>A	5.37:g.140734776G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A3A	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	9	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.9G>A	CCDS58979.1																																																																																				0.602	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		8	42	0	0	0	1	0	8	42				
TAPBPL	55080	broad.mit.edu	37	12	6567843	6567843	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:6567843G>A	ENST00000266556.7	+	5	1102	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	313	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CTTGGCAAACGAAGCTCTGCT	0.552																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(937-939)Gaa>Aaa		TAP binding protein-like							143.0	130.0	134.0					12																	6567843		2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6567843G>A	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.937G>A	12.37:g.6567843G>A	ENSP00000266556:p.Glu313Lys					TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	p.E313K	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			5	1102	+			313			Ig-like C1-type.		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.937G>A	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	6.457	0.452536	0.12283	.	.	ENSG00000139192	ENST00000266556	T	0.13901	2.55	5.05	-3.15	0.05233	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.304080	0.04839	N	0.440166	T	0.04952	0.0133	N	0.04203	-0.255	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.36915	-0.9728	10	0.05959	T	0.93	4.4904	6.3768	0.21511	0.6172:0.1424:0.2404:0.0	.	313	Q9BX59	TPSNR_HUMAN	K	313	ENSP00000266556:E313K	ENSP00000266556:E313K	E	+	1	0	TAPBPL	6438104	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.433000	0.06948	-0.914000	0.03827	-0.145000	0.13849	GAA		0.552	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		9	90	0	0	0	1	0	9	90				
ABCA4	24	broad.mit.edu	37	1	94568627	94568627	+	Missense_Mutation	SNP	C	C	T	rs61748532		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:94568627C>T	ENST00000370225.3	-	5	600	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	ABCA4_ENST00000535735.1_Missense_Mutation_p.G172S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	172					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.G172C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGACAGGCCGATGTTTTTA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19075	0.0		0.0	False		,,,				2504	0.0					ENST00000370225.3																			1	Substitution - Missense(1)	p.G172C(1)	lung(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM032798	ABCA4	M	rs61748532	c.(514-516)Ggc>Agc		ATP-binding cassette, sub-family A (ABC1), member 4		C	SER/GLY	0,4406		0,0,2203	266.0	249.0	255.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	514	5.4	1.0	1	dbSNP_129	255	9,8591	7.1+/-27.0	0,9,4291	yes	missense	ABCA4	NM_000350.2	56	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	probably-damaging	172/2274	94568627	9,12997	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94568627C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.514G>A	1.37:g.94568627C>T	ENSP00000359245:p.Gly172Ser					ABCA4_ENST00000535735.1_Missense_Mutation_p.G172S	p.G172S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	5	600	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	172					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.514G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	4.669	0.124423	0.08931	0.0	0.001047	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.88509	-2.35;-2.39	5.42	5.42	0.78866	.	0.379409	0.27000	N	0.021438	T	0.67306	0.2879	N	0.21373	0.66	0.45005	D	0.998028	B;P	0.37015	0.289;0.578	B;B	0.28385	0.089;0.055	T	0.75827	-0.3180	10	0.02654	T	1	.	18.8626	0.92278	0.0:1.0:0.0:0.0	rs61748532	172;172	F5H6E5;P78363	.;ABCA4_HUMAN	S	172	ENSP00000359245:G172S;ENSP00000437682:G172S	ENSP00000359245:G172S	G	-	1	0	ABCA4	94341215	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	2.045000	0.41250	2.542000	0.85734	0.655000	0.94253	GGC		0.463	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		46	207	0	0	0	1	0	46	207				
NRAP	4892	broad.mit.edu	37	10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A	rs377301664		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr10:115368262G>A	ENST00000359988.3	-	32	3857	c.3613C>T	c.(3613-3615)Cgg>Tgg	p.R1205W	NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000369358.4_Missense_Mutation_p.R1213W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGCCGATATTTACTC	0.438																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3637-3639)Cgg>Tgg		nebulin-related anchoring protein		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	202.0	194.0	197.0		3508,3613	6.0	1.0	10		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NRAP	NM_006175.3,NM_198060.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1170/1696,1205/1731	115368262	1,13005	2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115368262G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3613C>T	10.37:g.115368262G>A	ENSP00000353078:p.Arg1205Trp					NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W	p.R1213W			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	32	3881	-		Colorectal(252;0.0233)|Breast(234;0.188)	1205						Missense_Mutation	SNP	ENST00000359988.3	37	c.3637C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899823	0.91962	0.0	1.16E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.24538	2.23;2.23;1.97;1.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.89968	3.075	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67409	-0.5678	10	0.87932	D	0	.	18.7471	0.91797	0.0:0.0:1.0:0.0	.	1205;1170;1205	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	W	1213;1178;1205;1170	ENSP00000358365:R1213W;ENSP00000358367:R1178W;ENSP00000353078:R1205W;ENSP00000353666:R1170W	ENSP00000353078:R1205W	R	-	1	2	NRAP	115358252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.731000	0.84895	2.854000	0.98071	0.655000	0.94253	CGG		0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		20	154	0	0	0	1	0	20	154				
CRY2	1408	broad.mit.edu	37	11	45891303	45891303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr11:45891303C>T	ENST00000443527.2	+	7	1214	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CRY2_ENST00000417225.2_Missense_Mutation_p.R316W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	377	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCACCTGGCCCGGCATGCCGT	0.647																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1192-1194)Cgg>Tgg		cryptochrome 2 (photolyase-like)							46.0	49.0	48.0					11																	45891303		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891303C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1192C>T	11.37:g.45891303C>T	ENSP00000406751:p.Arg398Trp					CRY2_ENST00000417225.2_Missense_Mutation_p.R316W	p.R398W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			7	1214	+			377			FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1192C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865448	0.71949	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	2.75	0.32379	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	H	0.99498	4.595	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93955	0.7235	9	0.87932	D	0	-29.9156	14.5583	0.68118	0.5301:0.4699:0.0:0.0	.	377;398;316	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	W	316;398	.	ENSP00000397419:R316W	R	+	1	2	CRY2	45847879	0.970000	0.33590	1.000000	0.80357	0.988000	0.76386	1.498000	0.35660	0.800000	0.34041	0.655000	0.94253	CGG		0.647	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		11	82	0	0	0	1	0	11	82				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	98	0	0	0	1	0	5	98				
KMT2C	58508	broad.mit.edu	37	7	151917678	151917678	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr7:151917678C>T	ENST00000262189.6	-	23	3860	c.3642G>A	c.(3640-3642)gtG>gtA	p.V1214V	KMT2C_ENST00000355193.2_Silent_p.V1214V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1214					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAAGGACGGCCACGCTATTCT	0.393																																						ENST00000355193.2																			0											c.(3640-3642)gtG>gtA		lysine (K)-specific methyltransferase 2C							91.0	85.0	87.0					7																	151917678		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151917678C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3642G>A	7.37:g.151917678C>T						KMT2C_ENST00000262189.6_Silent_p.V1214V	p.V1214V							23	3860	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.3642G>A	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			26	60	0	0	0	1	0	26	60				
CMTM2	146225	broad.mit.edu	37	16	66613625	66613625	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:66613625C>G	ENST00000268595.2	+	1	266	c.115C>G	c.(115-117)Caa>Gaa	p.Q39E	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.Q39E	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	39					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGACAAACCTCAAAAGGCGGT	0.627																																						ENST00000268595.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(115-117)Caa>Gaa		CKLF-like MARVEL transmembrane domain containing 2							79.0	72.0	74.0					16																	66613625		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613625C>G	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.115C>G	16.37:g.66613625C>G	ENSP00000268595:p.Gln39Glu					CMTM2_ENST00000379486.2_Missense_Mutation_p.Q39E	p.Q39E	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	1	266	+		Ovarian(137;0.0563)	39					Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.115C>G	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.231845	0.00280	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.45276	0.9;1.49	0.93	-1.86	0.07760	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B	0.24533	0.105;0.105	B;B	0.28638	0.092;0.092	T	0.22034	-1.0228	9	0.02654	T	1	.	3.2788	0.06908	0.3795:0.3982:0.2223:0.0	.	39;39	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	E	39	ENSP00000368800:Q39E;ENSP00000268595:Q39E	ENSP00000268595:Q39E	Q	+	1	0	CMTM2	65171126	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.800000	0.04555	-1.955000	0.01023	0.123000	0.15791	CAA		0.627	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			12	113	0	0	0	1	0	12	113				
C1QBP	708	broad.mit.edu	37	17	5336447	5336447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:5336447C>T	ENST00000225698.4	-	6	818	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.R142Q	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	246					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	GTCCACCCCTCGGTCGGCAAG	0.413																																						ENST00000225698.4																			0				lung(2)|ovary(1)	3						c.(736-738)cGa>cAa		complement component 1, q subcomponent binding protein							65.0	67.0	67.0					17																	5336447		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5336447C>T	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.737G>A	17.37:g.5336447C>T	ENSP00000225698:p.Arg246Gln					C1QBP_ENST00000574444.1_Missense_Mutation_p.R142Q	p.R246Q	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN			6	818	-			246					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.737G>A	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635368	0.96682	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83637	0.0148	9	0.51188	T	0.08	-8.9884	18.6635	0.91479	0.0:1.0:0.0:0.0	.	246	Q07021	C1QBP_HUMAN	Q	246	.	ENSP00000225698:R246Q	R	-	2	0	C1QBP	5277171	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.694000	0.84235	2.655000	0.90218	0.655000	0.94253	CGA		0.413	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		6	46	0	0	0	1	0	6	46				
ZEB2	9839	broad.mit.edu	37	2	145157727	145157727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr2:145157727G>A	ENST00000558170.2	-	8	2211	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R343*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R343*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R319*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	343					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCTCATTCGGCCATTTACA	0.413																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107	GRCh37	CM031406	ZEB2	M		c.(1027-1029)Cga>Tga		zinc finger E-box binding homeobox 2							55.0	56.0	56.0					2																	145157727		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157727G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1027C>T	2.37:g.145157727G>A	ENSP00000454157:p.Arg343*					ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R319*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R343*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R343*	p.R343*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2211	-			343					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.1027C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059686	0.76074	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3533	13.6858	0.62515	0.0:0.0:0.7423:0.2577	.	.	.	.	X	338;319;343;343;343;343	.	ENSP00000302501:R343X	R	-	1	2	ZEB2	144874197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.867000	0.56047	2.658000	0.90341	0.655000	0.94253	CGA		0.413	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		22	34	0	0	0	1	0	22	34				
GPR98	84059	broad.mit.edu	37	5	89953816	89953816	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:89953816G>A	ENST00000405460.2	+	21	4569	c.4473G>A	c.(4471-4473)acG>acA	p.T1491T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1491	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAACTGACGCTTGAAGAAA	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4471-4473)acG>acA		G protein-coupled receptor 98							107.0	108.0	108.0					5																	89953816		1903	4119	6022	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953816G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4473G>A	5.37:g.89953816G>A							p.T1491T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4569	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1491					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.4473G>A	CCDS47246.1																																																																																				0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		31	78	0	0	0	1	0	31	78				
UPF3B	65109	broad.mit.edu	37	X	118972412	118972412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chrX:118972412G>A	ENST00000276201.2	-	9	994	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.L296F	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	309	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCATCACTGAGATTCTCTTTG	0.378																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(925-927)Ctc>Ttc		UPF3 regulator of nonsense transcripts homolog B (yeast)							181.0	154.0	164.0					X																	118972412		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118972412G>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.925C>T	X.37:g.118972412G>A	ENSP00000276201:p.Leu309Phe					UPF3B_ENST00000345865.2_Missense_Mutation_p.L296F|UPF3B_ENST00000478840.1_5'UTR	p.L309F	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			9	994	-			309			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.925C>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535494	0.64972	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.78003	-1.14;-1.11	5.61	5.61	0.85477	.	0.202028	0.34932	N	0.003569	D	0.84511	0.5488	M	0.69823	2.125	0.39532	D	0.968676	D;D	0.76494	0.991;0.999	P;D	0.64144	0.891;0.922	D	0.83602	0.0129	10	0.28530	T	0.3	.	12.2516	0.54601	0.0:0.0:0.8304:0.1696	.	296;309	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	F	309;296	ENSP00000276201:L309F;ENSP00000245418:L296F	ENSP00000276201:L309F	L	-	1	0	UPF3B	118856440	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.622000	0.54217	2.358000	0.79984	0.526000	0.51066	CTC		0.378	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			37	94	0	0	0	1	0	37	94				
CDKN2A	1029	broad.mit.edu	37	9	21971023	21971023	+	Missense_Mutation	SNP	C	C	T	rs587782797		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr9:21971023C>T	ENST00000304494.5	-	2	605	c.335G>A	c.(334-336)cGt>cAt	p.R112H	CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000530628.2_Silent_p.P126P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.P167P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	112			R -> RR (in CMM2). {ECO:0000269|PubMed:8653684}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGGGCAGACGGCCCCAGGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1366	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - Missense(1)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(334-336)cGt>cAt		cyclin-dependent kinase inhibitor 2A							19.0	22.0	21.0					9																	21971023		2199	4296	6495	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971023C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.335G>A	9.37:g.21971023C>T	ENSP00000307101:p.Arg112His	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000361570.3_Silent_p.P167P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.P126P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H	p.R112H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	605	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	112		R -> RR (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.335G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182017	0.78677	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.66460	-0.21;-0.21	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74921	0.3780	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68522	-0.5386	8	0.15952	T	0.53	-12.271	12.4538	0.55691	0.0:0.9227:0.0:0.0773	.	112	P42771	CD2A1_HUMAN	H	112	ENSP00000307101:R112H;ENSP00000394932:R112H	ENSP00000307101:R112H	R	-	2	0	CDKN2A	21961023	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.925000	0.40074	2.808000	0.96608	0.655000	0.94253	CGT		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	21	0	0	0	1	0	11	21				
ITGA8	8516	broad.mit.edu	37	10	15686110	15686110	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr10:15686110C>T	ENST00000378076.3	-	13	1671	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	440					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGCCCACACTCCTTGCAGA	0.443																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1318-1320)Gtg>Atg		integrin, alpha 8							128.0	108.0	115.0					10																	15686110		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15686110C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1318G>A	10.37:g.15686110C>T	ENSP00000367316:p.Val440Met						p.V440M	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			13	1671	-			440					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1318G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728266	0.30593	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.56776	0.44	6.02	0.208	0.15221	.	0.588854	0.19391	N	0.115414	T	0.31765	0.0807	N	0.24115	0.695	0.09310	N	0.99999	B;B	0.12630	0.006;0.004	B;B	0.14578	0.011;0.005	T	0.14144	-1.0483	10	0.51188	T	0.08	.	4.4041	0.11400	0.2365:0.4628:0.0:0.3007	.	425;440	F5H818;P53708	.;ITA8_HUMAN	M	440;425	ENSP00000367316:V440M	ENSP00000367316:V440M	V	-	1	0	ITGA8	15726116	0.002000	0.14202	0.037000	0.18230	0.986000	0.74619	0.069000	0.14552	-0.215000	0.10063	0.655000	0.94253	GTG		0.443	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		8	61	0	0	0	1	0	8	61				
POLG	5428	broad.mit.edu	37	15	89861842	89861842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr15:89861842G>A	ENST00000268124.5	-	21	3745	c.3412C>T	c.(3412-3414)Cgc>Tgc	p.R1138C	POLG_ENST00000442287.2_Missense_Mutation_p.R1138C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1138					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCAGGTAGCGAACCTCGTCA	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	GRCh37	CM083032	POLG	M		c.(3412-3414)Cgc>Tgc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							92.0	86.0	88.0					15																	89861842		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89861842G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3412C>T	15.37:g.89861842G>A	ENSP00000268124:p.Arg1138Cys					POLG_ENST00000442287.2_Missense_Mutation_p.R1138C	p.R1138C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		21	3745	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1138					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3412C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083058	0.94050	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98550	-4.99;-4.99	5.25	5.25	0.73442	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99334	1.0910	10	0.87932	D	0	-23.5786	19.0329	0.92965	0.0:0.0:1.0:0.0	.	1138	P54098	DPOG1_HUMAN	C	1138	ENSP00000268124:R1138C;ENSP00000399851:R1138C	ENSP00000268124:R1138C	R	-	1	0	POLG	87662846	1.000000	0.71417	0.971000	0.41717	0.977000	0.68977	9.263000	0.95617	2.729000	0.93468	0.655000	0.94253	CGC		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		8	80	0	0	0	1	0	8	80				
KIAA0556	23247	broad.mit.edu	37	16	27640094	27640094	+	Missense_Mutation	SNP	C	C	T	rs150389178		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:27640094C>T	ENST00000261588.4	+	4	272	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	85						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATCATCACCGCGGAAAGCTAT	0.532																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(253-255)Cgg>Tgg		KIAA0556		C	TRP/ARG	0,4394		0,0,2197	127.0	112.0	117.0		253	3.1	0.8	16	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0556	NM_015202.2	101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	85/1619	27640094	1,12993	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27640094C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.253C>T	16.37:g.27640094C>T	ENSP00000261588:p.Arg85Trp						p.R85W	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			4	272	+			85					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.253C>T	CCDS32415.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.08	1.830679	0.32329	0.0	1.16E-4	ENSG00000047578	ENST00000261588	T	0.47177	0.85	5.21	3.1	0.35709	.	0.350601	0.24854	N	0.035068	T	0.63295	0.2499	M	0.63428	1.95	0.25897	N	0.9834	D	0.89917	1.0	D	0.85130	0.997	T	0.55805	-0.8083	10	0.87932	D	0	-4.27	11.8055	0.52152	0.3654:0.6346:0.0:0.0	.	85	O60303	K0556_HUMAN	W	85	ENSP00000261588:R85W	ENSP00000261588:R85W	R	+	1	2	KIAA0556	27547595	0.750000	0.28316	0.804000	0.32291	0.050000	0.14768	1.187000	0.32090	1.195000	0.43115	-0.277000	0.10078	CGG		0.532	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		12	158	0	0	0	1	0	12	158				
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank	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	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L	p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	461	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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.329G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	50	1	0	1.66031e-10	1	1.81404e-10	27	50				
SLC5A5	6528	broad.mit.edu	37	19	17983280	17983280	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr19:17983280G>T	ENST00000222248.3	+	1	499	c.152G>T	c.(151-153)gGc>gTc	p.G51V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	51					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCACCGGGGGCCGGCGCCTG	0.716																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(151-153)gGc>gTc		solute carrier family 5 (sodium/iodide cotransporter), member 5							19.0	22.0	21.0					19																	17983280		2195	4295	6490	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17983280G>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.152G>T	19.37:g.17983280G>T	ENSP00000222248:p.Gly51Val						p.G51V	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			1	499	+			51					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.152G>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206737	0.79127	.	.	ENSG00000105641	ENST00000222248	D	0.92048	-2.96	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96504	0.9373	10	0.87932	D	0	.	9.9832	0.41826	0.1036:0.0:0.8964:0.0	.	51	Q92911	SC5A5_HUMAN	V	51	ENSP00000222248:G51V	ENSP00000222248:G51V	G	+	2	0	SLC5A5	17844280	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	5.437000	0.66544	0.908000	0.36671	0.485000	0.47835	GGC		0.716	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			4	17	1	0	0.00024832	1	0.000252601	4	17				
PIRT	644139	broad.mit.edu	37	17	10728855	10728855	+	Missense_Mutation	SNP	C	C	G	rs377456230		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:10728855C>G	ENST00000580256.2	-	2	746	c.108G>C	c.(106-108)agG>agC	p.R36S		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	36						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CAGACTCGCTCCTGGAGCTGA	0.592																																						ENST00000580256.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(106-108)agG>agC		phosphoinositide-interacting regulator of transient receptor potential channels							37.0	38.0	37.0					17																	10728855		2013	4162	6175	SO:0001583	missense	644139					integral to membrane		g.chr17:10728855C>G	AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.108G>C	17.37:g.10728855C>G	ENSP00000462046:p.Arg36Ser						p.R36S	NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN			2	746	-			36					B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	c.108G>C	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677019	0.68042	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	0.858	0.19030	.	.	.	.	.	T	0.56485	0.1988	L	0.29908	0.895	0.41776	D	0.989795	D	0.89917	1.0	D	0.85130	0.997	T	0.54984	-0.8211	8	0.87932	D	0	-1.6306	9.1424	0.36912	0.0:0.5817:0.0:0.4183	.	36	P0C851	PIRT_HUMAN	S	36	.	ENSP00000408936:R36S	R	-	3	2	PIRT	10669580	0.918000	0.31147	0.997000	0.53966	0.992000	0.81027	-0.140000	0.10342	-0.034000	0.13713	-0.302000	0.09304	AGG		0.592	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		3	15	0	0	0	1	0	3	15				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	20	0	0	0	1	0	4	20				
PARP10	84875	broad.mit.edu	37	8	145057416	145057416	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr8:145057416C>A	ENST00000313028.7	-	8	2435	c.2341G>T	c.(2341-2343)Gct>Tct	p.A781S	PARP10_ENST00000524918.1_Missense_Mutation_p.A772S|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.A793S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	781	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCAGCACGGGCAGGG	0.652																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2341-2343)Gct>Tct		poly (ADP-ribose) polymerase family, member 10							24.0	25.0	24.0					8																	145057416		2201	4299	6500	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057416C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2341G>T	8.37:g.145057416C>A	ENSP00000325618:p.Ala781Ser					PARP10_ENST00000524918.1_Missense_Mutation_p.A772S|PARP10_ENST00000525773.1_Missense_Mutation_p.A793S	p.A781S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2435	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		781			Myc binding.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2341G>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137899	0.56936	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.13196	2.61;2.62;2.62	4.97	4.97	0.65823	.	0.272597	0.26122	N	0.026217	T	0.25306	0.0615	L	0.32530	0.975	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.03212	-1.1060	10	0.56958	D	0.05	.	13.7993	0.63190	0.0:1.0:0.0:0.0	.	793;781	E9PNI7;Q53GL7	.;PAR10_HUMAN	S	772;487;781;793	ENSP00000431620:A772S;ENSP00000325618:A781S;ENSP00000434776:A793S	ENSP00000325618:A781S	A	-	1	0	PARP10	145129404	0.856000	0.29760	0.473000	0.27253	0.469000	0.32828	2.664000	0.46783	2.309000	0.77851	0.546000	0.68486	GCT		0.652	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		9	30	1	0	0.307466	1	0.307466	9	30				
ORC2	4999	broad.mit.edu	37	2	201800559	201800559	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr2:201800559C>T	ENST00000234296.2	-	9	820	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	191					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ACCCCTTCATCATCCTCTGAG	0.428																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(571-573)Gat>Aat		origin recognition complex, subunit 2							130.0	122.0	125.0					2																	201800559		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201800559C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.571G>A	2.37:g.201800559C>T	ENSP00000234296:p.Asp191Asn						p.D191N	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			9	820	-			191					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.571G>A	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060417	0.76074	.	.	ENSG00000115942	ENST00000234296	T	0.35048	1.33	5.24	5.24	0.73138	.	0.168537	0.52532	D	0.000071	T	0.40619	0.1124	L	0.51422	1.61	0.41190	D	0.986293	P;P	0.44429	0.835;0.799	P;B	0.45310	0.476;0.343	T	0.09840	-1.0656	10	0.20519	T	0.43	-7.3283	18.7709	0.91892	0.0:1.0:0.0:0.0	.	191;191	B4DYU9;Q13416	.;ORC2_HUMAN	N	191	ENSP00000234296:D191N	ENSP00000234296:D191N	D	-	1	0	ORC2	201508804	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.150000	0.64869	2.620000	0.88729	0.555000	0.69702	GAT		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		10	59	0	0	0	1	0	10	59				
NOTCH3	4854	broad.mit.edu	37	19	15299867	15299867	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr19:15299867C>T	ENST00000263388.2	-	8	1386	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	437	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCAGGGCCCCGACAGACACT	0.642																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(1309-1311)tcG>tcA		notch 3							45.0	38.0	40.0					19																	15299867		2202	4300	6502	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15299867C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1311G>A	19.37:g.15299867C>T							p.S437S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		8	1386	-			437			EGF-like 11; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.1311G>A	CCDS12326.1																																																																																				0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		5	39	0	0	0	1	0	5	39				
PHF8	23133	broad.mit.edu	37	X	54014374	54014374	+	Silent	SNP	C	C	T	rs369182537		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chrX:54014374C>T	ENST00000357988.5	-	15	2200	c.1842G>A	c.(1840-1842)acG>acA	p.T614T	PHF8_ENST00000338154.6_Silent_p.T578T|PHF8_ENST00000322659.8_Silent_p.T578T|PHF8_ENST00000338946.6_Silent_p.T477T	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	614					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCACCCTTTTCGTACTGAAGG	0.418																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1732-1734)acG>acA		PHD finger protein 8		C	,,,	0,3835		0,0,0,1632,571	139.0	100.0	113.0		1842,1431,1734,1734	-3.0	0.6	X		113	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PHF8	NM_001184896.1,NM_001184897.1,NM_001184898.1,NM_015107.2	,,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,,	614/1061,477/949,578/879,578/1025	54014374	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54014374C>T	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1842G>A	X.37:g.54014374C>T						PHF8_ENST00000338946.6_Silent_p.T477T|PHF8_ENST00000322659.8_Silent_p.T578T|PHF8_ENST00000357988.5_Silent_p.T614T	p.T578T	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			15	2238	-			614					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.1734G>A	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.239|0.239	-1.014902|-1.014902	0.02078|0.02078	0.0|0.0	1.49E-4|1.49E-4	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000396282	.|.	.|.	.|.	5.34|5.34	-2.97|-2.97	0.05530|0.05530	.|.	.|.	.|.	.|.	.|.	T|T	0.39358|0.39358	0.1075|0.1075	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28586|0.28586	-1.0039|-1.0039	4|4	.|.	.|.	.|.	-2.6731|-2.6731	2.2388|2.2388	0.04015|0.04015	0.1472:0.3493:0.2747:0.2288|0.1472:0.3493:0.2747:0.2288	.|.	.|.	.|.	.|.	K|Q	342|482	.|.	.|.	E|R	-|-	1|2	0|0	PHF8|PHF8	54031099|54031099	0.944000|0.944000	0.32072|0.32072	0.589000|0.589000	0.28718|0.28718	0.006000|0.006000	0.05464|0.05464	-0.329000|-0.329000	0.07935|0.07935	-0.829000|-0.829000	0.04268|0.04268	-1.502000|-1.502000	0.00957|0.00957	GAA|CGA		0.418	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		11	20	0	0	0	1	0	11	20				
HAO1	54363	broad.mit.edu	37	20	7921018	7921018	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr20:7921018C>G	ENST00000378789.3	-	1	103	c.52G>C	c.(52-54)Gta>Cta	p.V18L		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	18	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTGGAAGTACTGATTTAGCA	0.343																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(52-54)Gta>Cta		hydroxyacid oxidase (glycolate oxidase) 1							78.0	80.0	80.0					20																	7921018		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7921018C>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.52G>C	20.37:g.7921018C>G	ENSP00000368066:p.Val18Leu						p.V18L	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			1	103	-			18			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.52G>C	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.567352	0.00895	.	.	ENSG00000101323	ENST00000378789	T	0.29917	1.55	5.31	-1.76	0.08006	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.743369	0.13600	N	0.375925	T	0.16896	0.0406	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33445	-0.9868	10	0.11182	T	0.66	-22.367	5.6386	0.17550	0.1786:0.3925:0.0:0.4289	.	18;18	A8K058;Q9UJM8	.;HAOX1_HUMAN	L	18	ENSP00000368066:V18L	ENSP00000368066:V18L	V	-	1	0	HAO1	7869018	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.001000	0.03690	-0.207000	0.10187	-0.367000	0.07326	GTA		0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			33	79	0	0	0	1	0	33	79				
ADAMTS17	170691	broad.mit.edu	37	15	100821560	100821560	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr15:100821560C>T	ENST00000268070.4	-	4	768	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	221						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTTCCTCCGCTCCCGCCAGT	0.617																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(661-663)gaG>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 17							30.0	28.0	28.0					15																	100821560		2200	4296	6496	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821560C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.663G>A	15.37:g.100821560C>T							p.E221E	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	4	768	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		221					Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.663G>A	CCDS10383.1																																																																																				0.617	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		5	26	0	0	0	1	0	5	26				
TMEM132B	114795	broad.mit.edu	37	12	126137126	126137126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:126137126G>T	ENST00000299308.3	+	8	2047	c.2039G>T	c.(2038-2040)aGg>aTg	p.R680M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGACAAAAGGGCCATCGTC	0.607																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2038-2040)aGg>aTg		transmembrane protein 132B							64.0	66.0	65.0					12																	126137126		2139	4253	6392	SO:0001583	missense	114795					integral to membrane		g.chr12:126137126G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2039G>T	12.37:g.126137126G>T	ENSP00000299308:p.Arg680Met					TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192M	p.R680M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2047	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		680					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2039G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687348	0.88639	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14022	2.54;2.54	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.39358	0.1075	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.09228	-1.0684	10	0.56958	D	0.05	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	680	Q14DG7	T132B_HUMAN	M	680;192	ENSP00000299308:R680M;ENSP00000440436:R192M	ENSP00000299308:R680M	R	+	2	0	TMEM132B	124703079	1.000000	0.71417	0.980000	0.43619	0.922000	0.55478	7.599000	0.82757	2.574000	0.86865	0.655000	0.94253	AGG		0.607	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		11	78	1	0	9.05144e-12	1	1.00761e-11	11	78				
DNAH5	1767	broad.mit.edu	37	5	13817689	13817689	+	Missense_Mutation	SNP	G	G	A	rs144983881	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:13817689G>A	ENST00000265104.4	-	42	7060	c.6956C>T	c.(6955-6957)aCg>aTg	p.T2319M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2319	AAA 2. {ECO:0000250}.				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)					CCTCCAAAGCGTAGAAAATAT	0.403									Kartagener syndrome				G|||	11	0.00219649	0.0053	0.0	5008	,	,		17955	0.001		0.0	False		,,,				2504	0.0031					ENST00000265104.4																			0				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						c.(6955-6957)aCg>aTg		dynein, axonemal, heavy chain 5		G	MET/THR	5,4401	9.9+/-24.2	0,5,2198	133.0	126.0	129.0		6956	5.4	1.0	5	dbSNP_134	129	0,8600		0,0,4300	yes	missense	DNAH5	NM_001369.2	81	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	2319/4625	13817689	5,13001	2203	4300	6503	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.chr5:13817689G>A	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.6956C>T	5.37:g.13817689G>A	ENSP00000265104:p.Thr2319Met						p.T2319M	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			42	7060	-	Lung NSC(4;0.00476)		2319			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6956C>T	CCDS3882.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	22.9	4.346091	0.82022	0.001135	0.0	ENSG00000039139	ENST00000265104	T	0.57273	0.41	5.42	5.42	0.78866	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.048747	0.85682	D	0.000000	T	0.72104	0.3419	M	0.74881	2.28	0.58432	D	0.999991	D	0.76494	0.999	D	0.71414	0.973	T	0.75462	-0.3309	10	0.87932	D	0	.	16.2731	0.82630	0.0:0.1323:0.8677:0.0	.	2319	Q8TE73	DYH5_HUMAN	M	2319	ENSP00000265104:T2319M	ENSP00000265104:T2319M	T	-	2	0	DNAH5	13870689	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.913000	0.87471	2.535000	0.85469	0.650000	0.86243	ACG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	113	0	0	0	1	0	15	113				
GFOD1	54438	broad.mit.edu	37	6	13365014	13365014	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr6:13365014G>A	ENST00000379287.3	-	2	1798	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	GFOD1_ENST00000379284.1_Silent_p.S275S	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	378						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GCATGGCCTCGCTGATCAGGT	0.612																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(1132-1134)agC>agT		glucose-fructose oxidoreductase domain containing 1							50.0	46.0	47.0					6																	13365014		2203	4300	6503	SO:0001819	synonymous_variant	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365014G>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.1134C>T	6.37:g.13365014G>A						GFOD1_ENST00000379284.1_Silent_p.S275S	p.S378S	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1798	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	378					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	ENST00000379287.3	37	c.1134C>T	CCDS4524.1																																																																																				0.612	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		15	21	0	0	0	1	0	15	21				
OR5B12	390191	broad.mit.edu	37	11	58207049	58207049	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr11:58207049G>A	ENST00000302572.2	-	1	597	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATCTCACTGATGTAGTTGT	0.383																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(574-576)atC>atT		olfactory receptor, family 5, subfamily B, member 12							76.0	71.0	73.0					11																	58207049		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207049G>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.576C>T	11.37:g.58207049G>A							p.I192I	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	597	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	192					B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.576C>T	CCDS31551.1																																																																																				0.383	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		13	66	0	0	0	1	0	13	66				
SOGA1	140710	broad.mit.edu	37	20	35467643	35467643	+	Missense_Mutation	SNP	G	G	A	rs541773189	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr20:35467643G>A	ENST00000357779.3	-	2	501	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	SOGA1_ENST00000279034.6_Missense_Mutation_p.R59C|SOGA1_ENST00000237536.4_Missense_Mutation_p.R297C			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	59					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCAGACCACGGATAAGCTCG	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.002					ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(889-891)Cgt>Tgt		suppressor of glucose, autophagy associated 1							64.0	69.0	67.0					20																	35467643		2048	4188	6236	SO:0001583	missense	140710							g.chr20:35467643G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.175C>T	20.37:g.35467643G>A	ENSP00000350424:p.Arg59Cys					SOGA1_ENST00000357779.3_Missense_Mutation_p.R59C|SOGA1_ENST00000279034.5_Missense_Mutation_p.R59C	p.R297C	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			2	1230	-			59					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.886081	0.91814	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000357779	T;T;T	0.31769	1.48;1.53;1.58	4.86	4.86	0.63082	.	0.274240	0.30473	N	0.009549	T	0.50990	0.1648	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52472	-0.8571	10	0.87932	D	0	-12.3266	10.5038	0.44821	0.0897:0.0:0.9103:0.0	.	59	O94964-4	.	C	297;59;59	ENSP00000237536:R297C;ENSP00000279034:R59C;ENSP00000350424:R59C	ENSP00000237536:R297C	R	-	1	0	KIAA0889	34901057	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	4.579000	0.60936	2.517000	0.84864	0.491000	0.48974	CGT		0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		14	130	0	0	0	1	0	14	130				
CEMP1	752014	broad.mit.edu	37	16	2580950	2580950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:2580950G>A	ENST00000567119.1	-	1	459	c.125C>T	c.(124-126)cCa>cTa	p.P42L	MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.P42L|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.P42L	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	42						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TGCTGGGCCTGGGAGAGGAGC	0.642																																						ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(124-126)cCa>cTa		cementum protein 1							34.0	39.0	37.0					16																	2580950		2019	4172	6191	SO:0001583	missense	752014					cytoplasm		g.chr16:2580950G>A	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.125C>T	16.37:g.2580950G>A	ENSP00000457380:p.Pro42Leu					AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.P42L|CEMP1_ENST00000565480.1_Missense_Mutation_p.P42L|AMDHD2_ENST00000302956.4_3'UTR	p.P42L			Q6PRD7	CEMP1_HUMAN			1	470	-			42					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.125C>T	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	G	2.881	-0.231756	0.05983	.	.	ENSG00000205923	ENST00000382350	T	0.57273	0.41	1.38	0.38	0.16222	.	.	.	.	.	T	0.27419	0.0673	N	0.08118	0	0.09310	N	1	B	0.22211	0.066	B	0.14578	0.011	T	0.19224	-1.0312	9	0.87932	D	0	.	3.8185	0.08825	0.2448:0.0:0.7552:0.0	.	42	Q6PRD7	CEMP1_HUMAN	L	42	ENSP00000371787:P42L	ENSP00000371787:P42L	P	-	2	0	CEMP1	2520951	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	0.151000	0.19162	-0.291000	0.09656	CCA		0.642	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		3	42	0	0	0	1	0	3	42				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		7	78	0	0	0	1	0	7	78				
PAXBP1	94104	broad.mit.edu	37	21	34132255	34132255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr21:34132255G>T	ENST00000331923.4	-	6	1215	c.1026C>A	c.(1024-1026)taC>taA	p.Y342*	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.Y342*|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	342					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCATTGTCTGGTAAGTGTTCT	0.388																																						ENST00000331923.4																			0											c.(1024-1026)taC>taA		PAX3 and PAX7 binding protein 1							130.0	134.0	133.0					21																	34132255		2203	4300	6503	SO:0001587	stop_gained	94104							g.chr21:34132255G>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1026C>A	21.37:g.34132255G>T	ENSP00000328992:p.Tyr342*					PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.Y342*|PAXBP1_ENST00000472588.1_5'UTR	p.Y342*	NM_016631.3	NP_057715.2					6	1215	-								D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	ENST00000331923.4	37	c.1026C>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300467	0.81136	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-9.9047	19.9739	0.97296	0.0:0.0:1.0:0.0	.	.	.	.	X	342	.	ENSP00000290178:Y342X	Y	-	3	2	GCFC1	33054126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.345000	0.59360	2.826000	0.97356	0.563000	0.77884	TAC		0.388	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		10	93	1	0	1.58986e-06	1	1.67504e-06	10	93				
KRT14	3861	broad.mit.edu	37	17	39740038	39740038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:39740038C>G	ENST00000167586.6	-	4	987	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	301	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCCTCGGCATCCTTGCGGTTC	0.547																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(901-903)Gat>Cat		keratin 14							234.0	207.0	216.0					17																	39740038		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740038C>G	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.901G>C	17.37:g.39740038C>G	ENSP00000167586:p.Asp301His						p.D301H	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	987	-		Breast(137;0.000307)	301			Coil 2.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.901G>C	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467067	0.63625	.	.	ENSG00000186847	ENST00000167586	T	0.78816	-1.21	4.87	4.87	0.63330	Prefoldin (1);Filament (1);	0.221347	0.31167	N	0.008132	D	0.92182	0.7521	H	0.97732	4.065	0.51233	D	0.999916	D	0.89917	1.0	D	0.87578	0.998	D	0.94751	0.7927	10	0.87932	D	0	.	15.5316	0.75968	0.0:0.8619:0.1381:0.0	.	301	P02533	K1C14_HUMAN	H	301	ENSP00000167586:D301H	ENSP00000167586:D301H	D	-	1	0	KRT14	36993564	0.949000	0.32298	0.993000	0.49108	0.659000	0.38960	3.353000	0.52247	2.407000	0.81776	0.655000	0.94253	GAT		0.547	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		40	245	0	0	0	1	0	40	245				
NEGR1	257194	broad.mit.edu	37	1	72076802	72076802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:72076802G>C	ENST00000357731.5	-	5	934	c.695C>G	c.(694-696)tCt>tGt	p.S232C	NEGR1_ENST00000306821.3_Missense_Mutation_p.S104C|NEGR1_ENST00000434200.1_Missense_Mutation_p.S186C	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	232	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CACGGTGCCAGATTTAATTTC	0.428																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(694-696)tCt>tGt		neuronal growth regulator 1							50.0	52.0	51.0					1																	72076802		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72076802G>C	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.695C>G	1.37:g.72076802G>C	ENSP00000350364:p.Ser232Cys					NEGR1_ENST00000306821.3_Missense_Mutation_p.S104C|NEGR1_ENST00000434200.1_Missense_Mutation_p.S186C	p.S232C	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	5	934	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	232			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.695C>G	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768101	0.69878	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.68903	-0.36;-0.36;-0.36	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.258579	0.40640	N	0.001045	T	0.80253	0.4589	M	0.79926	2.475	0.42611	D	0.993316	D;D	0.67145	0.993;0.996	D;D	0.67382	0.951;0.951	T	0.80845	-0.1200	10	0.59425	D	0.04	-12.7122	19.1026	0.93279	0.0:0.0:1.0:0.0	.	186;232	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	C	232;104;186	ENSP00000350364:S232C;ENSP00000305938:S104C;ENSP00000413294:S186C	ENSP00000305938:S104C	S	-	2	0	NEGR1	71849390	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.440000	0.66563	2.797000	0.96272	0.655000	0.94253	TCT		0.428	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		30	78	0	0	0	1	0	30	78				
DTX1	1840	broad.mit.edu	37	12	113532922	113532922	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:113532922G>C	ENST00000257600.3	+	7	1965	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	488					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E488*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGGGAAGATGGAGTTCCACCT	0.647																																						ENST00000257600.3																			1	Substitution - Nonsense(1)	p.E488*(1)	lung(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1462-1464)Gag>Cag		deltex homolog 1 (Drosophila)							94.0	89.0	91.0					12																	113532922		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532922G>C	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1462G>C	12.37:g.113532922G>C	ENSP00000257600:p.Glu488Gln					DTX1_ENST00000547974.1_3'UTR	p.E488Q	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			7	1965	+			488					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1462G>C	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643635	0.87859	.	.	ENSG00000135144	ENST00000257600	T	0.24151	1.87	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	M	0.81341	2.54	0.58432	D	0.999995	P	0.49307	0.922	P	0.59487	0.858	T	0.58301	-0.7660	10	0.72032	D	0.01	-2.7956	16.0386	0.80648	0.0:0.0:1.0:0.0	.	488	Q86Y01	DTX1_HUMAN	Q	488	ENSP00000257600:E488Q	ENSP00000257600:E488Q	E	+	1	0	DTX1	112017305	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.493000	0.73658	2.047000	0.60756	0.561000	0.74099	GAG		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			8	82	0	0	0	1	0	8	82				
KIAA1462	57608	broad.mit.edu	37	10	30316882	30316882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr10:30316882G>A	ENST00000375377.1	-	3	2296	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	732					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.T732M(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCTGTGTGCGTCTGAGCTTC	0.577																																						ENST00000375377.1																			1	Substitution - Missense(1)	p.T732M(1)	large_intestine(1)	breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2194-2196)aCg>aTg		KIAA1462							57.0	60.0	59.0					10																	30316882		2118	4243	6361	SO:0001583	missense	57608							g.chr10:30316882G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2195C>T	10.37:g.30316882G>A	ENSP00000364526:p.Thr732Met						p.T732M	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2296	-			732					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2195C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165310	0.21538	.	.	ENSG00000165757	ENST00000375377	T	0.11277	2.79	5.52	-11.0	0.00169	.	3.447750	0.00604	N	0.000387	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.22604	0.072	B	0.13407	0.009	T	0.38200	-0.9672	10	0.38643	T	0.18	2.1835	1.9526	0.03370	0.1535:0.2773:0.3126:0.2566	.	732	Q9P266	K1462_HUMAN	M	732	ENSP00000364526:T732M	ENSP00000364526:T732M	T	-	2	0	KIAA1462	30356888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.017000	0.03630	-2.348000	0.00619	-0.339000	0.08088	ACG		0.577	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	50	0	0	0	1	0	7	50				
SS18L1	26039	broad.mit.edu	37	20	60749689	60749689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr20:60749689G>A	ENST00000331758.3	+	10	1179	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G385S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G388S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	385	Gln-rich.|Necessary for nuclear localization. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCGGCCCTACGGCTATGAACA	0.582			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(1153-1155)Ggc>Agc		synovial sarcoma translocation gene on chromosome 18-like 1							69.0	72.0	71.0					20																	60749689		2203	4300	6503	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60749689G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.1153G>A	20.37:g.60749689G>A	ENSP00000333012:p.Gly385Ser					SS18L1_ENST00000421564.1_Missense_Mutation_p.G385S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G388S	p.G385S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		10	1179	+	Breast(26;3.97e-09)		385			Gln-rich.|Necessary for nuclear localization (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.1153G>A	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226692	0.79576	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.35421	1.33;1.33;1.31	5.26	5.26	0.73747	.	0.119035	0.56097	D	0.000029	T	0.44074	0.1276	L	0.55481	1.735	0.45791	D	0.998678	D;D	0.69078	0.997;0.966	P;B	0.46885	0.53;0.261	T	0.48305	-0.9047	10	0.87932	D	0	-29.1297	19.2221	0.93801	0.0:0.0:1.0:0.0	.	385;385	B4DSR7;O75177	.;CREST_HUMAN	S	385;385;388	ENSP00000393999:G385S;ENSP00000333012:G385S;ENSP00000359885:G388S	ENSP00000333012:G385S	G	+	1	0	SS18L1	60183084	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	5.219000	0.65262	2.619000	0.88677	0.491000	0.48974	GGC		0.582	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			45	131	0	0	0	1	0	45	131				
TJAP1	93643	broad.mit.edu	37	6	43469294	43469294	+	Silent	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr6:43469294C>G	ENST00000372445.5	+	6	535	c.159C>G	c.(157-159)cgC>cgG	p.R53R	TJAP1_ENST00000436109.2_Silent_p.R53R|TJAP1_ENST00000372452.1_Silent_p.R53R|TJAP1_ENST00000372449.1_Silent_p.R53R|TJAP1_ENST00000372444.2_Silent_p.R53R|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.R53R|TJAP1_ENST00000259751.1_Silent_p.R53R	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	53					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGAGCTTCGCCGGCGCCTGG	0.632																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(157-159)cgC>cgG		tight junction associated protein 1 (peripheral)							39.0	43.0	42.0					6																	43469294		2203	4300	6503	SO:0001819	synonymous_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43469294C>G	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.159C>G	6.37:g.43469294C>G						TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.R53R|TJAP1_ENST00000372449.1_Silent_p.R53R|TJAP1_ENST00000372452.1_Silent_p.R53R|TJAP1_ENST00000372445.5_Silent_p.R53R|TJAP1_ENST00000436109.2_Silent_p.R53R|TJAP1_ENST00000259751.1_Silent_p.R53R	p.R53R	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		7	592	+	all_lung(25;0.00536)		53					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	37	c.159C>G	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261404	0.23051	.	.	ENSG00000137221	ENST00000454762	.	.	.	5.22	-1.21	0.09524	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.22626	-1.0211	4	.	.	.	-26.863	3.3929	0.07295	0.0966:0.3303:0.1251:0.4479	.	.	.	.	A	11	.	.	P	+	1	0	TJAP1	43577272	0.024000	0.19004	0.706000	0.30403	0.975000	0.68041	-1.107000	0.03316	-0.219000	0.10003	0.449000	0.29647	CCG		0.632	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		7	49	0	0	0	1	0	7	49				
RAD17	5884	broad.mit.edu	37	5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1594-1596)aTa>aAa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							25.0	23.0	24.0					5																	68692363		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692363T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1595T>A	5.37:g.68692363T>A	ENSP00000426191:p.Ile532Lys					RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K	p.I532K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2273	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	532			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1595T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079857	0.76528	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.24	5.24	0.73138	.	0.196705	0.53938	D	0.000058	T	0.42653	0.1212	L	0.56769	1.78	0.58432	D	0.999994	D;D;D	0.69078	0.991;0.989;0.997	D;P;D	0.67382	0.951;0.888;0.918	T	0.35943	-0.9768	10	0.72032	D	0.01	-25.9714	9.0349	0.36282	0.0:0.0847:0.0:0.9153	.	532;435;521	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	521;532;521;356;521;521;521;435;356;532;140	ENSP00000355226:I521K;ENSP00000426191:I532K;ENSP00000346938:I521K;ENSP00000427743:I356K;ENSP00000346271:I521K;ENSP00000311227:I521K;ENSP00000303134:I521K;ENSP00000282891:I435K;ENSP00000350725:I356K;ENSP00000370151:I532K;ENSP00000425005:I140K	ENSP00000282891:I435K	I	+	2	0	RAD17	68728119	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.213000	0.65230	2.098000	0.63641	0.455000	0.32223	ATA		0.343	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		5	14	0	0	0	1	0	5	14				
PSD2	84249	broad.mit.edu	37	5	139189169	139189169	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:139189169C>T	ENST00000274710.3	+	2	349	c.144C>T	c.(142-144)caC>caT	p.H48H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	48					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGGGCACGAGCGAAGGG	0.652																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(142-144)caC>caT		pleckstrin and Sec7 domain containing 2							43.0	48.0	47.0					5																	139189169		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189169C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.144C>T	5.37:g.139189169C>T							p.H48H	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	349	+			48					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.144C>T	CCDS4216.1																																																																																				0.652	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		5	46	0	0	0	1	0	5	46				
E2F7	144455	broad.mit.edu	37	12	77421911	77421911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:77421911G>A	ENST00000322886.7	-	11	2127	c.1892C>T	c.(1891-1893)tCa>tTa	p.S631L	E2F7_ENST00000416496.2_Missense_Mutation_p.S631L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	631					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|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)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGTGGAATCTGAGGGTTTCTA	0.423																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1891-1893)tCa>tTa		E2F transcription factor 7							80.0	79.0	79.0					12																	77421911		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77421911G>A	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1892C>T	12.37:g.77421911G>A	ENSP00000323246:p.Ser631Leu					E2F7_ENST00000416496.2_Missense_Mutation_p.S631L	p.S631L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			11	2127	-			631					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.1892C>T	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277377	0.23307	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.56776	0.44;0.44;0.44	5.32	5.32	0.75619	.	0.393291	0.23646	N	0.045963	T	0.52386	0.1731	L	0.57536	1.79	0.09310	N	1	P;B	0.40180	0.705;0.099	B;B	0.44044	0.439;0.027	T	0.48352	-0.9043	10	0.26408	T	0.33	-5.6027	11.6915	0.51519	0.0831:0.0:0.9169:0.0	.	631;631	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	L	631;118;631;631	ENSP00000323246:S631L;ENSP00000393639:S631L;ENSP00000448245:S631L	ENSP00000323246:S631L	S	-	2	0	E2F7	75946042	0.196000	0.23350	0.045000	0.18777	0.598000	0.36846	2.249000	0.43169	2.767000	0.95098	0.655000	0.94253	TCA		0.423	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		10	85	0	0	0	1	0	10	85				
DYNC1H1	1778	broad.mit.edu	37	14	102471452	102471452	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr14:102471452G>T	ENST00000360184.4	+	26	5476	c.5312G>T	c.(5311-5313)gGa>gTa	p.G1771V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1771	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCATGGGCGGAGGTGGAGAT	0.572																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5311-5313)gGa>gTa		dynein, cytoplasmic 1, heavy chain 1							81.0	58.0	66.0					14																	102471452		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102471452G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5312G>T	14.37:g.102471452G>T	ENSP00000348965:p.Gly1771Val						p.G1771V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			26	5476	+			1771			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5312G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324936	0.41197	.	.	ENSG00000197102	ENST00000360184	T	0.28454	1.61	5.75	5.75	0.90469	.	0.101382	0.64402	D	0.000002	T	0.31702	0.0805	L	0.42245	1.32	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.02909	-1.1095	10	0.40728	T	0.16	.	19.9507	0.97198	0.0:0.0:1.0:0.0	.	1771	Q14204	DYHC1_HUMAN	V	1771	ENSP00000348965:G1771V	ENSP00000348965:G1771V	G	+	2	0	DYNC1H1	101541205	1.000000	0.71417	0.560000	0.28344	0.364000	0.29643	6.228000	0.72288	2.705000	0.92388	0.655000	0.94253	GGA		0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		15	45	1	0	1.49906e-05	1	1.55166e-05	15	45				
HIST2H3D	653604	broad.mit.edu	37	1	149784864	149784864	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:149784864T>C	ENST00000331491.1	-	1	372	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	125					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCCAACTGGATGTCCTTGGGC	0.592																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(373-375)Atc>Gtc		histone cluster 2, H3d							46.0	48.0	47.0					1																	149784864		1568	3581	5149	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784864T>C	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.373A>G	1.37:g.149784864T>C	ENSP00000333277:p.Ile125Val						p.I125V	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	372	-			125					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.373A>G	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228287	0.39399	.	.	ENSG00000183598	ENST00000331491	T	0.43294	0.95	4.04	4.04	0.47022	.	0.000000	0.53938	U	0.000044	T	0.44561	0.1299	.	.	.	0.48830	D	0.99971	.	.	.	.	.	.	T	0.48293	-0.9048	7	0.59425	D	0.04	.	12.2479	0.54581	0.0:0.0:0.0:1.0	.	.	.	.	V	125	ENSP00000333277:I125V	ENSP00000333277:I125V	I	-	1	0	HIST2H3D	148051488	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.436000	0.66538	1.834000	0.53371	0.358000	0.22013	ATC		0.592	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		8	59	0	0	0	1	0	8	59				
F2RL2	2151	broad.mit.edu	37	5	75914376	75914376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:75914376delG	ENST00000296641.4	-	2	359	c.156delC	c.(154-156)cccfs	p.P52fs	IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Frame_Shift_Del_p.P30fs|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	52					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AGGCAGAAAAGGGGAACTCTT	0.438																																						ENST00000296641.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(154-156)ccfs		coagulation factor II (thrombin) receptor-like 2							92.0	102.0	99.0					5																	75914376		2203	4300	6503	SO:0001589	frameshift_variant	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75914376delG	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.156delC	5.37:g.75914376delG	ENSP00000296641:p.Pro52fs					F2RL2_ENST00000504899.1_Frame_Shift_Del_p.P30fs|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	p.P52fs	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	359	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	52					B2R754|B4DQ13|Q52M68|Q7Z3W3	Frame_Shift_Del	DEL	ENST00000296641.4	37	c.156delC	CCDS4031.1																																																																																				0.438	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			17	141						17	141	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699826	+	RNA	DEL	TT	TT	-	rs57470450		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr7:29699825_29699826delTT	ENST00000426767.1	-	0	366					NR_024278.1				zinc and ring finger 2 pseudogene 2																		ATTATTGACCTTTTTTTTTTCA	0.252																																						ENST00000426767.1																			0																																																			100271874							g.chr7:29699825_29699826delTT			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29699833_29699834delTT								NR_024278.1						0	366	-									RNA	DEL	ENST00000426767.1	37																																																																																						0.252	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		3	6						3	6	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142480997	142480998	+	RNA	DEL	AT	AT	-	rs370406023		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr7:142480997_142480998delAT	ENST00000603901.1	+	0	200					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCCCATGTGATATGACCACAT	0.569																																						ENST00000603901.1																			0																																																			154754							g.chr7:142480997_142480998delAT			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480999_142481000delAT								NR_001296.3						0	200	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.569	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	5						6	5	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401062	139401062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr9:139401062delA	ENST00000277541.6	-	24	4006	c.3931delT	c.(3931-3933)tgcfs	p.C1311fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1311	EGF-like 34. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGCCTTTGCAGCCATTGATG	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3931-3933)gcfs		notch 1							21.0	26.0	24.0					9																	139401062		2038	4191	6229	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401062delA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3931delT	9.37:g.139401062delA	ENSP00000277541:p.Cys1311fs	HNSCC(8;0.001)					p.C1311fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	24	4006	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1311			EGF-like 34.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.3931delT	CCDS43905.1																																																																																				0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	8						6	8	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		8	169						8	169	---	---	---	---
RP11-1028N23.4	0	broad.mit.edu	37	12	116030327	116030327	+	lincRNA	DEL	T	T	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:116030327delT	ENST00000551940.1	-	0	343																											ctccattttcTTTTTTTTTTT	0.473																																						ENST00000551940.1																			0																																																			0							g.chr12:116030327delT																													12.37:g.116030327delT														0	343	-									RNA	DEL	ENST00000551940.1	37																																																																																						0.473	RP11-1028N23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403876.1			2	4						2	4	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84132827	84132828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:84132827_84132828insT	ENST00000343411.3	-	3	746_747	c.251_252insA	c.(250-252)aatfs	p.N84fs		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	84					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAATTCTCCAATTGTCTACTTC	0.381																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(250-252)atgfs		membrane-bound transcription factor peptidase, site 1																																				SO:0001589	frameshift_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132827_84132828insT	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.252dupA	16.37:g.84132829_84132829dupT	ENSP00000344223:p.Asn84fs						p.M84fs	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	746_747	-			84					A8K6V8|Q24JQ2|Q9UF67	Frame_Shift_Ins	INS	ENST00000343411.3	37	c.251_252insA	CCDS10941.1																																																																																				0.381	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		14	196						14	196	---	---	---	---
SIGLEC15	284266	broad.mit.edu	37	18	43417720	43417720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr18:43417720delA	ENST00000389474.3	+	3	572	c.355delA	c.(355-357)aacfs	p.N119fs	SIGLEC15_ENST00000602118.2_Intron|SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000587418.1_5'Flank	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	119	Ig-like V-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCTGCTGGGCAACCCGCGCCG	0.741																																						ENST00000389474.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(355-357)acfs		sialic acid binding Ig-like lectin 15							3.0	3.0	3.0					18																	43417720		1349	2874	4223	SO:0001589	frameshift_variant	284266					integral to membrane		g.chr18:43417720delA	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.355delA	18.37:g.43417720delA	ENSP00000374125:p.Asn119fs					SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000602118.2_Intron	p.N119fs	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN			3	572	+			119			Ig-like V-type.		A8K2Y5|B4DVQ9	Frame_Shift_Del	DEL	ENST00000389474.3	37	c.355delA	CCDS32819.1																																																																																				0.741	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		2	4						2	4	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53655770	53655771	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chrX:53655770_53655771delAC	ENST00000342160.3	-	13	1503_1504	c.1046_1047delGT	c.(1045-1047)tgtfs	p.C349fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.C349fs|HUWE1_ENST00000218328.8_Frame_Shift_Del_p.C349fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	349					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGTTCCAGTACAGTCAATAAT	0.391																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1045-1047)tfs		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53655770_53655771delAC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1046_1047delGT	X.37:g.53655770_53655771delAC	ENSP00000340648:p.Cys349fs					HUWE1_ENST00000262854.6_Frame_Shift_Del_p.C349fs|HUWE1_ENST00000218328.8_Frame_Shift_Del_p.C349fs	p.C349fs			Q7Z6Z7	HUWE1_HUMAN			13	1503_1504	-			349					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	ENST00000342160.3	37	c.1046_1047delGT	CCDS35301.1																																																																																				0.391	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	41						7	41	---	---	---	---
