#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
ZMYND15	84225	broad.mit.edu	37	17	4644908	4644908	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:4644908A>T	ENST00000433935.1	+	3	681	c.624A>T	c.(622-624)ttA>ttT	p.L208F	ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F|CXCL16_ENST00000574412.1_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	208					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCTGTCTCTTACTTGTGACGG	0.582																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(622-624)ttA>ttT		zinc finger, MYND-type containing 15							168.0	174.0	172.0					17																	4644908		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4644908A>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.624A>T	17.37:g.4644908A>T	ENSP00000391742:p.Leu208Phe					ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F	p.L208F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			3	681	+			208					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.624A>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265272	0.59431	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.63417	0.06;-0.04	5.15	-3.22	0.05125	.	0.000000	0.44097	D	0.000488	T	0.58609	0.2134	L	0.32530	0.975	0.27509	N	0.951732	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.986	T	0.53613	-0.8414	10	0.72032	D	0.01	-6.7728	3.0321	0.06110	0.3254:0.1264:0.4135:0.1347	.	208;208	B4DXY5;Q9H091	.;ZMY15_HUMAN	F	208	ENSP00000391742:L208F;ENSP00000269289:L208F	ENSP00000269289:L208F	L	+	3	2	ZMYND15	4591657	0.019000	0.18553	0.931000	0.37212	0.849000	0.48306	-0.258000	0.08733	-0.405000	0.07599	-0.370000	0.07254	TTA		0.582	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		7	321	0	0	0	1	0	7	321				
HIST1H2BE	8344	broad.mit.edu	37	6	26184184	26184184	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:26184184G>A	ENST00000356530.3	+	1	227	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CCCGACACCGGCATCTCCTCT	0.577																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(160-162)gGc>gAc		histone cluster 1, H2be							167.0	155.0	159.0					6																	26184184		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184184G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.161G>A	6.37:g.26184184G>A	ENSP00000348924:p.Gly54Asp						p.G54D	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	227	+			54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.161G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.873960	0.51695	.	.	ENSG00000197697	ENST00000356530	T	0.69435	-0.4	4.96	4.96	0.65561	.	0.000000	0.34700	U	0.003742	T	0.73442	0.3587	.	.	.	0.47153	D	0.999335	.	.	.	.	.	.	T	0.77498	-0.2565	7	0.87932	D	0	.	14.8694	0.70444	0.0:0.1441:0.8559:0.0	.	.	.	.	D	54	ENSP00000348924:G54D	ENSP00000348924:G54D	G	+	2	0	HIST1H2BE	26292163	1.000000	0.71417	0.888000	0.34837	0.004000	0.04260	5.400000	0.66320	2.479000	0.83701	0.537000	0.68136	GGC		0.577	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		5	288	0	0	0	1	0	5	288				
FLOT2	2319	broad.mit.edu	37	17	27207790	27207790	+	Nonsense_Mutation	SNP	G	G	A	rs187973207	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:27207790G>A	ENST00000394908.4	-	10	1293	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FLOT2_ENST00000394906.2_Nonsense_Mutation_p.R452*|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	397					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCAGCAGTCGGTTCACTTCT	0.572																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1354-1356)Cga>Tga		flotillin 2							90.0	96.0	94.0					17																	27207790		2165	4267	6432	SO:0001587	stop_gained	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27207790G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1189C>T	17.37:g.27207790G>A	ENSP00000378368:p.Arg397*					FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*|FLOT2_ENST00000394908.4_Nonsense_Mutation_p.R397*	p.R452*			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		12	1431	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		397						Nonsense_Mutation	SNP	ENST00000394908.4	37	c.1354C>T	CCDS11245.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	37	6.512997	0.97629	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8604	18.4071	0.90539	0.0:0.0:1.0:0.0	.	.	.	.	X	452;397	.	ENSP00000378366:R452X	R	-	1	2	FLOT2	24231916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.824000	0.99380	2.587000	0.87381	0.561000	0.74099	CGA		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		11	100	0	0	0	1	0	11	100				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	60	1	0	0.0215528	1	0.0224508	5	60				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	206	0	0	0	1	0	6	206				
CYHR1	50626	broad.mit.edu	37	8	145690245	145690245	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:145690245A>C	ENST00000438911.2	-	1	173	c.40T>G	c.(40-42)Tcc>Gcc	p.S14A	CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000530374.1_5'Flank|KIFC2_ENST00000301332.2_5'Flank	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	14						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACCAGATGGGACAGGGCTGTG	0.622																																						ENST00000438911.2																			0				haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7						c.(40-42)Tcc>Gcc		cysteine/histidine-rich 1							38.0	39.0	38.0					8																	145690245		2199	4299	6498	SO:0001583	missense	50626					perinuclear region of cytoplasm	zinc ion binding	g.chr8:145690245A>C	AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.40T>G	8.37:g.145690245A>C	ENSP00000387426:p.Ser14Ala					CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A	p.S14A	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		1	173	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		14					B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	ENST00000438911.2	37	c.40T>G	CCDS47943.1	.	.	.	.	.	.	.	.	.	.	a	15.11	2.736223	0.49045	.	.	ENSG00000187954	ENST00000438911;ENST00000526887;ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764;ENST00000530637	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.44	4.44	0.53790	.	0.245052	0.28549	U	0.014943	T	0.60932	0.2307	L	0.39898	1.24	0.22240	N	0.999261	D;P	0.61697	0.99;0.643	D;P	0.70935	0.971;0.661	T	0.53070	-0.8490	10	0.87932	D	0	.	10.3801	0.44106	1.0:0.0:0.0:0.0	.	14;14	Q6ZMK1-3;Q6ZMK1	.;CYHR1_HUMAN	A	14	ENSP00000387426:S14A;ENSP00000385962:S14A;ENSP00000414647:S14A;ENSP00000304826:S14A;ENSP00000432902:S14A;ENSP00000434642:S14A	ENSP00000304826:S14A	S	-	1	0	CYHR1	145661053	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	2.377000	0.44300	1.777000	0.52277	0.454000	0.30748	TCC		0.622	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687		10	34	0	0	0	1	0	10	34				
AOC3	8639	broad.mit.edu	37	17	41004014	41004014	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:41004014G>A	ENST00000308423.2	+	1	814	c.654G>A	c.(652-654)ctG>ctA	p.L218L	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	218					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCGTGGTCTGCAATCAGGGG	0.607																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(652-654)ctG>ctA		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						26.0	27.0	26.0					17																	41004014		2202	4300	6502	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004014G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.654G>A	17.37:g.41004014G>A							p.L218L	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	814	+		Breast(137;0.000143)	218					B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.654G>A	CCDS11444.1																																																																																				0.607	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		26	69	0	0	0	1	0	26	69				
TRBV6-8	28599	broad.mit.edu	37	7	142124387	142124387	+	RNA	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:142124387T>C	ENST00000390376.2	-	0	90									T cell receptor beta variable 6-8																		GTCTTCAGGATGTGGAATTTT	0.522																																						ENST00000390376.2																			0																				94.0	90.0	91.0					7																	142124387		1925	4122	6047			0							g.chr7:142124387T>C	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124387T>C														0	90	-									RNA	SNP	ENST00000390376.2	37																																																																																						0.522	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		4	145	0	0	0	1	0	4	145				
CDC123	8872	broad.mit.edu	37	10	12238281	12238281	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:12238281G>C	ENST00000281141.4	+	1	317	c.37G>C	c.(37-39)Gcg>Ccg	p.A13P	NUDT5_ENST00000378937.3_5'Flank|CDC123_ENST00000455773.3_3'UTR|NUDT5_ENST00000378940.3_5'Flank|NUDT5_ENST00000491614.1_5'Flank|NUDT5_ENST00000378927.3_5'Flank|NUDT5_ENST00000537776.1_5'Flank|CDC123_ENST00000378900.2_Missense_Mutation_p.A13P|NUDT5_ENST00000378952.3_5'Flank	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	13					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CCAGTTCTCCGCGTGGTACCC	0.622																																						ENST00000281141.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(37-39)Gcg>Ccg		cell division cycle 123							122.0	105.0	110.0					10																	12238281		2203	4300	6503	SO:0001583	missense	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12238281G>C	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.37G>C	10.37:g.12238281G>C	ENSP00000281141:p.Ala13Pro					CDC123_ENST00000378900.2_Missense_Mutation_p.A13P|CDC123_ENST00000455773.3_3'UTR	p.A13P	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN			1	317	+			13					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	c.37G>C	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666940	0.67814	.	.	ENSG00000151465	ENST00000429258;ENST00000281141;ENST00000378900;ENST00000442050	.	.	.	4.58	2.61	0.31194	.	0.363954	0.32218	N	0.006420	T	0.34221	0.0890	L	0.48642	1.525	0.32442	N	0.546564	P	0.38195	0.622	B	0.33254	0.16	T	0.42361	-0.9456	9	0.35671	T	0.21	-9.0411	7.845	0.29421	0.0:0.1505:0.3869:0.4627	.	13	O75794	CD123_HUMAN	P	13	.	ENSP00000281141:A13P	A	+	1	0	CDC123	12278287	0.620000	0.27068	1.000000	0.80357	0.997000	0.91878	1.358000	0.34102	0.589000	0.29677	0.561000	0.74099	GCG		0.622	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		10	142	0	0	0	1	0	10	142				
SEL1L3	23231	broad.mit.edu	37	4	25836841	25836841	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:25836841G>A	ENST00000399878.3	-	3	960	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	280						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCCTCTGGCGTCGAGTGGCC	0.537																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(838-840)Cgc>Tgc		sel-1 suppressor of lin-12-like 3 (C. elegans)							125.0	126.0	126.0					4																	25836841		1970	4148	6118	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25836841G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.838C>T	4.37:g.25836841G>A	ENSP00000382767:p.Arg280Cys					SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000513364.1_5'UTR	p.R280C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			3	960	-			280					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.838C>T	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596962	0.46318	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.18338	2.22;2.22;2.22	6.02	1.32	0.21799	.	0.782834	0.13011	N	0.420833	T	0.12433	0.0302	L	0.47716	1.5	0.35223	D	0.776173	B	0.16166	0.016	B	0.06405	0.002	T	0.20773	-1.0265	10	0.62326	D	0.03	-0.3889	0.7311	0.00957	0.2128:0.1638:0.3583:0.2651	.	280	Q68CR1	SE1L3_HUMAN	C	280;245;127	ENSP00000382767:R280C;ENSP00000264868:R245C;ENSP00000425438:R127C	ENSP00000264868:R245C	R	-	1	0	SEL1L3	25445939	0.991000	0.36638	0.968000	0.41197	0.949000	0.60115	0.419000	0.21247	-0.096000	0.12329	0.655000	0.94253	CGC		0.537	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		15	224	0	0	0	1	0	15	224				
OR4A16	81327	broad.mit.edu	37	11	55111566	55111566	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111566A>G	ENST00000314721.2	+	1	940	c.890A>G	c.(889-891)aAa>aGa	p.K297R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATGCTATGAAAAATCTCTGG	0.313																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(889-891)aAa>aGa		olfactory receptor, family 4, subfamily A, member 16							41.0	41.0	41.0					11																	55111566		2201	4294	6495	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111566A>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.890A>G	11.37:g.55111566A>G	ENSP00000325128:p.Lys297Arg						p.K297R	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	940	+			297					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.890A>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.192470	0.00302	.	.	ENSG00000181961	ENST00000314721	T	0.38077	1.16	3.02	-1.28	0.09318	.	.	.	.	.	T	0.13756	0.0333	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.31888	-0.9927	9	0.06757	T	0.87	.	4.274	0.10800	0.3368:0.2132:0.4501:0.0	.	297	Q8NH70	O4A16_HUMAN	R	297	ENSP00000325128:K297R	ENSP00000325128:K297R	K	+	2	0	OR4A16	54868142	0.000000	0.05858	0.122000	0.21767	0.015000	0.08874	-0.663000	0.05299	-0.378000	0.07918	0.346000	0.21813	AAA		0.313	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		23	36	0	0	0	1	0	23	36				
CCDC153	283152	broad.mit.edu	37	11	119061065	119061065	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:119061065G>A	ENST00000503566.2	-	6	576	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	193										lung(3)|stomach(1)	4						CCAAACTGGCGTTGCTGCTCC	0.572																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(577-579)Cgc>Tgc		coiled-coil domain containing 153							118.0	105.0	109.0					11																	119061065		2200	4295	6495	SO:0001583	missense	283152							g.chr11:119061065G>A		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.577C>T	11.37:g.119061065G>A	ENSP00000423567:p.Arg193Cys					CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C	p.R193C			Q494R4	CC153_HUMAN			6	576	-			193						Missense_Mutation	SNP	ENST00000503566.2	37	c.577C>T	CCDS44753.1	.	.	.	.	.	.	.	.	.	.	G	4.034	0.003811	0.07866	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.46819	0.86;0.86	4.68	0.36	0.16097	.	0.582291	0.16723	N	0.202186	T	0.25158	0.0611	N	0.19112	0.55	0.21652	N	0.999608	B	0.12013	0.005	B	0.06405	0.002	T	0.13791	-1.0496	10	0.54805	T	0.06	-11.3955	1.4316	0.02335	0.2731:0.1413:0.4408:0.1449	.	193	Q494R4	CC153_HUMAN	C	193	ENSP00000423567:R193C;ENSP00000445431:R193C	ENSP00000445431:R193C	R	-	1	0	CCDC153	118566275	0.000000	0.05858	0.951000	0.38953	0.033000	0.12548	-0.246000	0.08878	-0.086000	0.12550	-0.254000	0.11334	CGC		0.572	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		59	94	0	0	0	1	0	59	94				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:7578413C>A	ENST00000269305.4	-	5	706	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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"""		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(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	CM070299	TP53	M		c.(517-519)Gtg>Ttg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578413		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.chr17:7578413C>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.517G>T	17.37:g.7578413C>A	ENSP00000269305:p.Val173Leu	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_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	p.V173L	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)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.517G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743630	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		78	17	1	0	9.35349e-44	1	1.15002e-43	78	17				
KIAA1210	57481	broad.mit.edu	37	X	118222263	118222263	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:118222263G>A	ENST00000402510.2	-	11	2929	c.2930C>T	c.(2929-2931)tCt>tTt	p.S977F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	977										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGCTTCATAGAAATGCTCTC	0.463																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2929-2931)tCt>tTt		KIAA1210							72.0	64.0	66.0					X																	118222263		1931	4133	6064	SO:0001583	missense	57481							g.chrX:118222263G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2930C>T	X.37:g.118222263G>A	ENSP00000384670:p.Ser977Phe						p.S977F	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2929	-			977					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2930C>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500028	0.26861	.	.	ENSG00000250423	ENST00000402510	T	0.11385	2.78	4.58	1.73	0.24493	.	.	.	.	.	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	P	0.44816	0.844	B	0.42319	0.383	T	0.25187	-1.0139	8	.	.	.	.	3.6098	0.08055	0.2106:0.0:0.595:0.1944	.	977	Q9ULL0	K1210_HUMAN	F	977	ENSP00000384670:S977F	.	S	-	2	0	RP13-347D8.6	118106291	0.010000	0.17322	0.000000	0.03702	0.006000	0.05464	0.247000	0.18179	0.220000	0.20860	0.600000	0.82982	TCT		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		31	6	0	0	0	1	0	31	6				
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000396620.3_Silent_p.F1098F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATAATGCGACGAAAATGGCCA	0.423																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3193-3195)ttC>ttT		CD163 molecule							131.0	137.0	135.0					12																	7635291		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635291G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3195C>T	12.37:g.7635291G>A						CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000541972.1_Silent_p.F1053F	p.F1065F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3397	-			1065					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.3195C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	2.931	-0.221078	0.06061	.	.	ENSG00000177575	ENST00000537626	.	.	.	4.32	1.48	0.22813	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	.	4.6156	0.12424	0.1985:0.1808:0.6208:0.0	.	.	.	.	L	78	.	.	S	-	2	0	CD163	7526558	0.229000	0.23729	0.012000	0.15200	0.001000	0.01503	0.717000	0.25851	0.348000	0.23949	-0.224000	0.12420	TCG		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		9	204	0	0	0	1	0	9	204				
DST	667	broad.mit.edu	37	6	56418203	56418203	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:56418203T>A	ENST00000361203.3	-	57	14761	c.14754A>T	c.(14752-14754)caA>caT	p.Q4918H	DST_ENST00000244364.6_Missense_Mutation_p.Q2506H|DST_ENST00000370754.5_Missense_Mutation_p.Q5098H|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H			Q03001	DYST_HUMAN	dystonin	4918					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCAGACCCTTGTGTTTTTA	0.318																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15292-15294)caA>caT		dystonin							112.0	106.0	108.0					6																	56418203		1819	4085	5904	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56418203T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14754A>T	6.37:g.56418203T>A	ENSP00000354508:p.Gln4918His					DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q4918H|DST_ENST00000244364.6_Missense_Mutation_p.Q2506H|DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H	p.Q5098H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15293	-	Lung NSC(77;0.103)		4918					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15294A>T		.	.	.	.	.	.	.	.	.	.	T	12.47	1.948490	0.34377	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.61	1.85	0.25348	.	0.000000	0.50627	D	0.000105	T	0.28200	0.0696	L	0.52364	1.645	0.27651	N	0.947392	D;D;D;D;B	0.71674	0.991;0.998;0.998;0.975;0.054	P;D;D;P;B	0.72982	0.873;0.979;0.979;0.832;0.052	T	0.06935	-1.0799	9	0.30078	T	0.28	.	9.1642	0.37041	0.0:0.2126:0.0:0.7874	.	2832;4920;5098;4918;2506	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	2506;5098;4920;2832;4594;2832;4918	ENSP00000244364:Q2506H;ENSP00000359790:Q5098H;ENSP00000359805:Q4920H;ENSP00000400883:Q2832H;ENSP00000393645:Q4594H;ENSP00000359824:Q2832H;ENSP00000354508:Q4918H	ENSP00000244364:Q2506H	Q	-	3	2	DST	56526162	0.996000	0.38824	0.994000	0.49952	0.975000	0.68041	0.531000	0.23052	0.144000	0.18951	0.533000	0.62120	CAA		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	98	0	0	0	1	0	4	98				
ANKRD36C	400986	broad.mit.edu	37	2	96525640	96525640	+	Missense_Mutation	SNP	G	G	T	rs77864759	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:96525640G>T	ENST00000456556.1	-	61	3949	c.3865C>A	c.(3865-3867)Ctt>Att	p.L1289I	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.L540I|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.L316I			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1289							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCCAATTCAAGTGTTTCATGC	0.284																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(3865-3867)Ctt>Att		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96525640G>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3865C>A	2.37:g.96525640G>T	ENSP00000403302:p.Leu1289Ile					ANKRD36C_ENST00000419039.2_Missense_Mutation_p.L316I|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.L540I	p.L1289I							61	3949	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.3865C>A		.	.	.	.	.	.	.	.	.	.	g	0.358	-0.941246	0.02322	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.85	-0.114	0.13564	.	.	.	.	.	T	0.07458	0.0188	N	0.20685	0.6	0.22127	N	0.999348	B	0.12013	0.005	B	0.09377	0.004	T	0.35674	-0.9779	9	0.37606	T	0.19	.	4.4534	0.11631	0.0:0.5857:0.2492:0.1651	.	1289	Q5JPF3	AN36C_HUMAN	I	540;1289;316	ENSP00000415231:L540I;ENSP00000403302:L1289I;ENSP00000407838:L316I	ENSP00000407838:L316I	L	-	1	0	AC073995.2	95889367	0.176000	0.23096	0.046000	0.18839	0.004000	0.04260	-0.545000	0.06069	-0.043000	0.13513	0.297000	0.19635	CTT		0.284	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	20	1	0	0.150653	1	0.152689	3	20				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	24	0	0	0	1	0	5	24				
SART3	9733	broad.mit.edu	37	12	108920291	108920291	+	Missense_Mutation	SNP	G	G	A	rs552177489		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:108920291G>A	ENST00000228284.3	-	16	2189	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SART3_ENST00000431469.2_Missense_Mutation_p.P616L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	652	Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TCCAGCTGCAGGGATGCTGTT	0.507									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1954-1956)cCt>cTt		squamous cell carcinoma antigen recognized by T cells 3							92.0	92.0	92.0					12																	108920291		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920291G>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1955C>T	12.37:g.108920291G>A	ENSP00000228284:p.Pro652Leu					SART3_ENST00000431469.2_Missense_Mutation_p.P616L	p.P652L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			16	2189	-			652			Required for nuclear localization.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1955C>T	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100681	0.20552	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000546815	T;T;T	0.57107	2.28;2.17;0.42	5.21	5.21	0.72293	.	0.660840	0.15186	N	0.275817	T	0.33000	0.0848	N	0.14661	0.345	0.23293	N	0.997961	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.07328	-1.0778	10	0.37606	T	0.19	-2.8991	7.0632	0.25137	0.0957:0.177:0.7273:0.0	.	670;616;652	F8VV04;B7ZKM0;Q15020	.;.;SART3_HUMAN	L	652;616;228;670	ENSP00000228284:P652L;ENSP00000414453:P616L;ENSP00000449386:P670L	ENSP00000228284:P652L	P	-	2	0	SART3	107444421	0.021000	0.18746	0.011000	0.14972	0.054000	0.15201	1.753000	0.38359	2.428000	0.82296	0.561000	0.74099	CCT		0.507	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			7	149	0	0	0	1	0	7	149				
DNM1P47	100216544	broad.mit.edu	37	15	102304793	102304793	+	RNA	SNP	A	A	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr15:102304793A>C	ENST00000561463.1	+	0	12839									DNM1 pseudogene 47																		GCGTGGGAAGAAGAAGACACT	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102304793A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304793A>C														0	12839	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	24	0	0	0	1	0	5	24				
OR10H4	126541	broad.mit.edu	37	19	16059822	16059822	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:16059822C>T	ENST00000322107.1	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTATCCATGCCTAGTCAGAAC	0.438																																						ENST00000322107.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(4-6)cCt>cTt		olfactory receptor, family 10, subfamily H, member 4							183.0	160.0	168.0					19																	16059822		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16059822C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.5C>T	19.37:g.16059822C>T	ENSP00000318834:p.Pro2Leu						p.P2L	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	5	+			2					Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.5C>T	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	c	0.141	-1.102014	0.01828	.	.	ENSG00000176231	ENST00000322107	T	0.37235	1.21	1.53	-3.04	0.05412	.	1.881800	0.03727	U	0.252757	T	0.15003	0.0362	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10086	-1.0645	10	0.33940	T	0.23	.	1.9714	0.03406	0.2615:0.3336:0.0:0.405	.	2	Q8NGA5	O10H4_HUMAN	L	2	ENSP00000318834:P2L	ENSP00000318834:P2L	P	+	2	0	OR10H4	15920822	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.592000	0.05747	-0.581000	0.05937	-1.595000	0.00837	CCT		0.438	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			6	94	0	0	0	1	0	6	94				
OR2A7	401427	broad.mit.edu	37	7	143956629	143956629	+	Silent	SNP	G	G	A	rs375690859	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143956629G>A	ENST00000493325.1	-	1	186	c.93C>T	c.(91-93)tcC>tcT	p.S31S	OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CGTAGAACAGGGAGAAGAGCC	0.537													g|||	2	0.000399361	0.0015	0.0	5008	,	,		28379	0.0		0.0	False		,,,				2504	0.0					ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(91-93)tcC>tcT		olfactory receptor, family 2, subfamily A, member 7		G		1,4311		0,1,2155	57.0	73.0	68.0		93	-1.0	0.2	7		68	0,8498		0,0,4249	no	coding-synonymous	OR2A7	NM_001005328.1		0,1,6404	AA,AG,GG		0.0,0.0232,0.0078		31/311	143956629	1,12809	2156	4249	6405	SO:0001819	synonymous_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956629G>A		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.93C>T	7.37:g.143956629G>A						RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA	p.S31S	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	186	-	Melanoma(164;0.14)		31					B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	c.93C>T	CCDS55177.1																																																																																				0.537	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			10	263	0	0	0	1	0	10	263				
CYP2E1	1571	broad.mit.edu	37	10	135352317	135352317	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:135352317G>A	ENST00000463117.2	+	11	1603	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	444					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGCCTGGCTCGCATGGAGTTG	0.448									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1330-1332)cGc>cAc		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						282.0	236.0	251.0					10																	135352317		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135352317G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1331G>A	10.37:g.135352317G>A	ENSP00000440689:p.Arg444His					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H	p.R444H			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	1603	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	444					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1331G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	.	17.67	3.446293	0.63178	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.70516	-0.49;-0.49	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.79926	2.475	0.33276	D	0.56165	D	0.89917	1.0	D	0.91635	0.999	D	0.86763	0.1968	10	0.72032	D	0.01	.	9.5224	0.39143	0.094:0.0:0.906:0.0	.	444	P05181	CP2E1_HUMAN	H	444	ENSP00000440689:R444H;ENSP00000252945:R444H	ENSP00000252945:R444H	R	+	2	0	CYP2E1	135202307	0.912000	0.30974	1.000000	0.80357	0.289000	0.27227	4.389000	0.59639	2.772000	0.95346	0.561000	0.74099	CGC		0.448	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		8	493	0	0	0	1	0	8	493				
ZZEF1	23140	broad.mit.edu	37	17	3974138	3974138	+	Silent	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:3974138C>A	ENST00000381638.2	-	26	4039	c.3915G>T	c.(3913-3915)ggG>ggT	p.G1305G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1305							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGAATATGGCCCACAGAAGT	0.438																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3913-3915)ggG>ggT		zinc finger, ZZ-type with EF-hand domain 1							111.0	110.0	111.0					17																	3974138		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3974138C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3915G>T	17.37:g.3974138C>A							p.G1305G	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			26	4039	-			1305					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.3915G>T	CCDS11043.1																																																																																				0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		61	93	1	0	4.96213e-28	1	5.9073e-28	61	93				
ZNF607	84775	broad.mit.edu	37	19	38189657	38189657	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:38189657G>T	ENST00000355202.4	-	5	1970	c.1375C>A	c.(1375-1377)Cgt>Agt	p.R459S	ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAGGCACAACGAAAGGACTTC	0.413																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(1375-1377)Cgt>Agt		zinc finger protein 607							98.0	99.0	99.0					19																	38189657		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189657G>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1375C>A	19.37:g.38189657G>T	ENSP00000347338:p.Arg459Ser					ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S|CTD-2528L19.4_ENST00000586606.2_Intron	p.R459S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1970	-			459					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1375C>A	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.104522	0.00356	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.35605	1.3;1.3	2.38	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.02357	-0.585	0.09310	N	1	B;B	0.31640	0.003;0.333	B;B	0.30029	0.002;0.11	T	0.23332	-1.0191	9	0.02654	T	1	.	0.4414	0.00487	0.1961:0.1515:0.2743:0.3781	.	459;458	Q96SK3;F5H141	ZN607_HUMAN;.	S	459;458	ENSP00000347338:R459S;ENSP00000438015:R458S	ENSP00000347338:R459S	R	-	1	0	ZNF607	42881497	0.000000	0.05858	0.318000	0.25279	0.114000	0.19823	-2.399000	0.01050	0.201000	0.20466	0.561000	0.74099	CGT		0.413	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		5	110	1	0	1	1	1	5	110				
ADPRHL1	113622	broad.mit.edu	37	13	114107558	114107558	+	Silent	SNP	G	G	A	rs369993693		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:114107558G>A	ENST00000375418.3	-	1	281	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	65					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GGGCCTCGGCGGTTGCGATGT	0.647																																						ENST00000375418.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(193-195)acC>acT		ADP-ribosylhydrolase like 1		G		1,4405	2.1+/-5.4	0,1,2202	117.0	97.0	104.0		195	-11.5	0.0	13		104	0,8600		0,0,4300	no	coding-synonymous	ADPRHL1	NM_138430.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		65/355	114107558	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107558G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.195C>T	13.37:g.114107558G>A							p.T65T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	281	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	65					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.195C>T	CCDS9535.1																																																																																				0.647	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		41	17	0	0	0	1	0	41	17				
FTCD	10841	broad.mit.edu	37	21	47557244	47557244	+	Missense_Mutation	SNP	G	G	A	rs145609043		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:47557244G>A	ENST00000291670.5	-	13	1491	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	FTCD_ENST00000397748.1_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V|FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000397743.1_Silent_p.G468G|FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000498355.2_5'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	483	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGCTTTGGCCGCCACCTGCAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18300	0.0		0.001	False		,,,				2504	0.0					ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1447-1449)gCg>gTg		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	90.0	87.0	88.0		1448,1448	4.1	1.0	21	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	FTCD	NM_006657.2,NM_206965.1	64,64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	483/542,483/542	47557244	3,13003	2203	4300	6503	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47557244G>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1448C>T	21.37:g.47557244G>A	ENSP00000291670:p.Ala483Val					FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000291670.5_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V|FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Silent_p.G468G	p.A483V			O95954	FTCD_HUMAN		Colorectal(79;0.235)	13	1491	-	Breast(49;0.214)		483			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.1448C>T	CCDS13731.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	19.52|19.52	3.843774|3.843774	0.71488|0.71488	0.0|0.0	3.49E-4|3.49E-4	ENSG00000160282|ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000397746|ENST00000446405	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.12|4.12	4.12|4.12	0.48240|0.48240	Cyclodeaminase/cyclohydrolase (2);|.	0.126274|.	0.52532|.	U|.	0.000077|.	T|T	0.80654|0.80654	0.4664|0.4664	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	P;D|.	0.64776|.	0.834;0.929|.	D|D	0.85232|0.85232	0.1033|0.1033	10|5	0.87932|.	D|.	0|.	-7.8491|-7.8491	13.3068|13.3068	0.60357|0.60357	0.0:0.1728:0.8272:0.0|0.0:0.1728:0.8272:0.0	.|.	483;483|.	O95954-2;O95954|.	.;FTCD_HUMAN|.	V|W	483|24	ENSP00000291670:A483V;ENSP00000380856:A483V;ENSP00000352707:A483V;ENSP00000380854:A483V|.	ENSP00000291670:A483V|.	A|R	-|-	2|1	0|2	FTCD|FTCD	46381672|46381672	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.897000|0.897000	0.52465|0.52465	3.380000|3.380000	0.52448|0.52448	1.842000|1.842000	0.53543|0.53543	0.455000|0.455000	0.32223|0.32223	GCG|CGG		0.597	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		32	23	0	0	0	1	0	32	23				
APOB	338	broad.mit.edu	37	2	21236129	21236129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:21236129G>T	ENST00000233242.1	-	25	4246	c.4119C>A	c.(4117-4119)taC>taA	p.Y1373*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCACCACTGTAGGAGGCGG	0.512																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4117-4119)taC>taA		apolipoprotein B	Atorvastatin(DB01076)						202.0	185.0	191.0					2																	21236129		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236129G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4119C>A	2.37:g.21236129G>T	ENSP00000233242:p.Tyr1373*						p.Y1373*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4246	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1373					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.4119C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	43	10.411894	0.99400	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.38	1.46	0.22682	.	0.112680	0.40064	N	0.001188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3088	0.37891	0.3015:0.0:0.6985:0.0	.	.	.	.	X	1373	.	ENSP00000233242:Y1373X	Y	-	3	2	APOB	21089634	0.798000	0.28890	0.930000	0.37139	0.962000	0.63368	0.443000	0.21644	0.321000	0.23259	0.557000	0.71058	TAC		0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	214	1	0	0.0135373	1	0.0143	10	214				
LAMA2	3908	broad.mit.edu	37	6	129419488	129419488	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:129419488G>A	ENST00000421865.2	+	4	616	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCCACCGTCATATGCCA	0.448																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(565-567)ccG>ccA		laminin, alpha 2							82.0	78.0	79.0					6																	129419488		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419488G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.567G>A	6.37:g.129419488G>A							p.P189P	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	616	+			189			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.567G>A	CCDS5138.1																																																																																				0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			29	53	0	0	0	1	0	29	53				
ZNF518B	85460	broad.mit.edu	37	4	10445137	10445137	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:10445137C>G	ENST00000326756.3	-	3	3254	c.2816G>C	c.(2815-2817)cGg>cCg	p.R939P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	939					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGCTGGTTCCGACGGGGACA	0.448																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2815-2817)cGg>cCg		zinc finger protein 518B							114.0	108.0	110.0					4																	10445137		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445137C>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2816G>C	4.37:g.10445137C>G	ENSP00000317614:p.Arg939Pro						p.R939P	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3254	-			939					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2816G>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108735	0.77096	.	.	ENSG00000178163	ENST00000326756	T	0.02498	4.27	6.16	6.16	0.99307	.	0.283977	0.33553	N	0.004800	T	0.11067	0.0270	L	0.48642	1.525	0.40593	D	0.981501	D	0.76494	0.999	D	0.78314	0.991	T	0.00171	-1.1959	10	0.87932	D	0	-11.4667	14.658	0.68847	0.1451:0.8549:0.0:0.0	.	939	Q9C0D4	Z518B_HUMAN	P	939	ENSP00000317614:R939P	ENSP00000317614:R939P	R	-	2	0	ZNF518B	10054235	0.866000	0.29940	0.999000	0.59377	0.987000	0.75469	1.530000	0.36007	2.937000	0.99478	0.650000	0.86243	CGG		0.448	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		7	174	0	0	0	1	0	7	174				
GSTK1	373156	broad.mit.edu	37	7	142965221	142965221	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:142965221G>A	ENST00000358406.5	+	7	646	c.575G>A	c.(574-576)gGc>gAc	p.G192D	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D|GSTK1_ENST00000479303.1_Missense_Mutation_p.G248D|GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	192					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CATGTGGATGGCCAAACCCAC	0.547																																						ENST00000479303.1																			0				lung(4)	4						c.(742-744)gGc>gAc		glutathione S-transferase kappa 1	Glutathione(DB00143)						310.0	310.0	310.0					7																	142965221		2203	4300	6503	SO:0001583	missense	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142965221G>A		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.575G>A	7.37:g.142965221G>A	ENSP00000351181:p.Gly192Asp					AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D|GSTK1_ENST00000358406.5_Missense_Mutation_p.G192D|GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D	p.G248D	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN			6	801	+	Melanoma(164;0.059)		192					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.743G>A	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118131	0.37339	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.78	1.7	0.24286	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.243435	0.48286	N	0.000183	T	0.48892	0.1525	L	0.52573	1.65	0.47245	D	0.999364	B;B;B;B	0.28801	0.015;0.018;0.071;0.223	B;B;B;B	0.34138	0.023;0.035;0.149;0.176	T	0.46205	-0.9208	9	0.49607	T	0.09	-11.9926	6.8031	0.23762	0.2415:0.1317:0.6268:0.0	.	180;149;248;192	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	D	180;149;192;248	.	ENSP00000351181:G192D	G	+	2	0	GSTK1	142675343	0.638000	0.27225	0.909000	0.35828	0.856000	0.48823	1.125000	0.31332	0.775000	0.33450	0.644000	0.83932	GGC		0.547	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		7	800	0	0	0	1	0	7	800				
SEMA4F	10505	broad.mit.edu	37	2	74901641	74901641	+	Missense_Mutation	SNP	G	G	A	rs563916347		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:74901641G>A	ENST00000357877.2	+	8	988	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	280	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCGGGGGCCGGAAGACCCTC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18878	0.0		0.0	False		,,,				2504	0.001					ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(838-840)cGg>cAg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							52.0	56.0	55.0					2																	74901641		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74901641G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.839G>A	2.37:g.74901641G>A	ENSP00000350547:p.Arg280Gln					SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q	p.R280Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			8	988	+			280			Sema.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.839G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775487	0.16051	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000453930	T;T;T	0.10763	2.84;2.84;2.84	5.33	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.155761	0.41500	D	0.000879	T	0.02807	0.0084	N	0.01874	-0.695	0.33237	D	0.556658	B;B	0.16396	0.007;0.017	B;B	0.14578	0.011;0.007	T	0.34875	-0.9811	10	0.02654	T	1	.	5.4761	0.16695	0.1029:0.0:0.6516:0.2455	.	125;280	O95754-2;O95754	.;SEM4F_HUMAN	Q	280;125;125	ENSP00000350547:R280Q;ENSP00000342675:R125Q;ENSP00000409141:R125Q	ENSP00000342675:R125Q	R	+	2	0	SEMA4F	74755149	0.006000	0.16342	1.000000	0.80357	0.120000	0.20174	0.276000	0.18716	2.504000	0.84457	0.289000	0.19496	CGG		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		20	43	0	0	0	1	0	20	43				
AQR	9716	broad.mit.edu	37	15	35193058	35193058	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr15:35193058G>A	ENST00000156471.5	-	20	2233	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	670					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATAGTCTCCAGCACAGCCTGT	0.438																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2008-2010)Ctg>Ttg		aquarius intron-binding spliceosomal factor							91.0	83.0	86.0					15																	35193058		1984	4173	6157	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35193058G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2008C>T	15.37:g.35193058G>A							p.L670L	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	20	2233	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	670					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.2008C>T	CCDS42013.1																																																																																				0.438	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		4	90	0	0	0	1	0	4	90				
IP6K2	51447	broad.mit.edu	37	3	48725944	48725944	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:48725944T>C	ENST00000328631.5	-	6	1266	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	348					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ATCCTCAGCATCTGAGTCCAG	0.557																																						ENST00000328631.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(1042-1044)gAt>gGt		inositol hexakisphosphate kinase 2							83.0	79.0	81.0					3																	48725944		2203	4300	6503	SO:0001583	missense	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48725944T>C	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.1043A>G	3.37:g.48725944T>C	ENSP00000331103:p.Asp348Gly						p.D348G	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN			6	1266	-			348					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.1043A>G	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728834	0.30593	.	.	ENSG00000068745	ENST00000328631	T	0.19806	2.12	5.61	5.61	0.85477	.	0.099404	0.64402	D	0.000002	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	B	0.28820	0.224	B	0.34536	0.185	T	0.04153	-1.0973	10	0.18710	T	0.47	-19.05	15.8096	0.78547	0.0:0.0:0.0:1.0	.	348	Q9UHH9	IP6K2_HUMAN	G	348	ENSP00000331103:D348G	ENSP00000331103:D348G	D	-	2	0	IP6K2	48700948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.962000	0.56766	2.132000	0.65825	0.533000	0.62120	GAT		0.557	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		13	33	0	0	0	1	0	13	33				
ATRX	546	broad.mit.edu	37	X	76849196	76849196	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:76849196A>G	ENST00000373344.5	-	26	6294	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2027	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGCCATTCGAAGAATTTCAAA	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6079-6081)cTt>cCt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						72.0	69.0	70.0					X																	76849196		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849196A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6080T>C	X.37:g.76849196A>G	ENSP00000362441:p.Leu2027Pro					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P	p.L2027P	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			26	6294	-			2027			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6080T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948058	0.53186	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94862	-3.54;-3.54	5.45	5.45	0.79879	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000010	D	0.97804	0.9279	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98781	1.0732	10	0.87932	D	0	-5.4506	14.5755	0.68243	1.0:0.0:0.0:0.0	.	1989;2027	P46100-4;P46100	.;ATRX_HUMAN	P	2027;1989	ENSP00000362441:L2027P;ENSP00000378967:L1989P	ENSP00000362441:L2027P	L	-	2	0	ATRX	76735852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	1.823000	0.53134	0.430000	0.28490	CTT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		47	24	0	0	0	1	0	47	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			44	58	0	0	0	1	0	44	58				
PRDM12	59335	broad.mit.edu	37	9	133553963	133553963	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133553963C>A	ENST00000253008.2	+	4	678	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	206					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GAAACTCACACAACACCTTCC	0.592																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(616-618)caC>caA		PR domain containing 12							109.0	99.0	102.0					9																	133553963		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133553963C>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.618C>A	9.37:g.133553963C>A	ENSP00000253008:p.His206Gln						p.H206Q	NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	4	678	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	206			SET.		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.618C>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468533	0.26335	.	.	ENSG00000130711	ENST00000253008	T	0.21361	2.01	5.88	2.61	0.31194	SET domain (2);	0.096234	0.64402	D	0.000001	T	0.14700	0.0355	L	0.34521	1.04	0.42318	D	0.992245	B	0.14438	0.01	B	0.08055	0.003	T	0.06770	-1.0808	10	0.40728	T	0.16	-43.4685	8.7728	0.34742	0.1137:0.667:0.0:0.2193	.	206	Q9H4Q4	PRD12_HUMAN	Q	206	ENSP00000253008:H206Q	ENSP00000253008:H206Q	H	+	3	2	PRDM12	132543784	0.998000	0.40836	0.997000	0.53966	0.598000	0.36846	0.612000	0.24283	0.414000	0.25790	-1.134000	0.01955	CAC		0.592	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		4	93	1	0	0.00024832	1	0.00027797	4	93				
COL4A6	1288	broad.mit.edu	37	X	107417809	107417809	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:107417809G>T	ENST00000372216.4	-	31	3102	c.3002C>A	c.(3001-3003)cCt>cAt	p.P1001H	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1001H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1000H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1001	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGAGCTCCAGGTAGGCCTGG	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3001-3003)cCt>cAt		collagen, type IV, alpha 6							28.0	30.0	30.0					X																	107417809		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417809G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3002C>A	X.37:g.107417809G>T	ENSP00000361290:p.Pro1001His					COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1001H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1000H	p.P1001H			Q14031	CO4A6_HUMAN			31	3233	-			1001			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3002C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421361	0.42918	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97114	-4.19;-4.19;-3.93;-3.93;-4.25	5.03	5.03	0.67393	.	0.000000	0.42053	D	0.000777	D	0.98036	0.9353	L	0.61387	1.9	0.51767	D	0.999936	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.999;0.995;0.987	D	0.99133	1.0853	10	0.72032	D	0.01	.	17.7759	0.88508	0.0:0.0:1.0:0.0	.	1000;1000;1001;1000	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	1001;1000;1001;1000;1000;1000	ENSP00000361290:P1001H;ENSP00000334733:P1000H;ENSP00000378340:P1001H;ENSP00000443707:P1000H;ENSP00000445236:P1000H	ENSP00000334733:P1000H	P	-	2	0	COL4A6	107304465	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	8.317000	0.89987	2.432000	0.82394	0.594000	0.82650	CCT		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			17	20	1	0	0.000566183	1	0.000624467	17	20				
SLC39A10	57181	broad.mit.edu	37	2	196582986	196582986	+	Silent	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:196582986C>T	ENST00000409086.3	+	8	2351	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	SLC39A10_ENST00000541054.1_Silent_p.F242F|SLC39A10_ENST00000359634.5_Silent_p.F692F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	692					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTGCAGCTTTCAGTGCTGGAT	0.363																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(2074-2076)ttC>ttT		solute carrier family 39 (zinc transporter), member 10							125.0	122.0	123.0					2																	196582986		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196582986C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2076C>T	2.37:g.196582986C>T						SLC39A10_ENST00000541054.1_Silent_p.F242F|SLC39A10_ENST00000359634.5_Silent_p.F692F	p.F692F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		8	2351	+			692					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.2076C>T	CCDS33353.1																																																																																				0.363	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		24	73	0	0	0	1	0	24	73				
NOL8	55035	broad.mit.edu	37	9	95081532	95081532	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:95081532C>T	ENST00000535387.1	-	4	387	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	NOL8_ENST00000543985.1_5'Flank|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M|NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M|NOL8_ENST00000545558.1_Missense_Mutation_p.V130M					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTCCCTGGCACAGCTTTCATA	0.468																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(388-390)Gtg>Atg		nucleolar protein 8							176.0	163.0	167.0					9																	95081532		1973	4152	6125	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95081532C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.388G>A	9.37:g.95081532C>T	ENSP00000441300:p.Val130Met					NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M|NOL8_ENST00000535387.1_Missense_Mutation_p.V130M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M	p.V130M			Q76FK4	NOL8_HUMAN			5	880	-			130						Missense_Mutation	SNP	ENST00000535387.1	37	c.388G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252136	0.95336	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807;ENST00000536624	T;T;T;T;T;T;T;T;T	0.58797	1.85;1.11;1.85;2.05;1.11;1.59;0.31;0.45;1.15	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.52905	1.665	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.75374	-0.3340	10	0.87932	D	0	-12.7359	19.5227	0.95192	0.0:1.0:0.0:0.0	.	130	Q76FK4	NOL8_HUMAN	M	130;130;62;130;130;62;130;130;130;62;62;130	ENSP00000401177:V130M;ENSP00000351723:V62M;ENSP00000441140:V130M;ENSP00000441300:V130M;ENSP00000440709:V62M;ENSP00000414112:V130M;ENSP00000412471:V130M;ENSP00000390143:V130M;ENSP00000442037:V130M	ENSP00000351723:V62M	V	-	1	0	NOL8	94121353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.359000	0.59449	2.699000	0.92147	0.650000	0.86243	GTG		0.468	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		16	30	0	0	0	1	0	16	30				
CTSB	1508	broad.mit.edu	37	8	11705211	11705211	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:11705211G>A	ENST00000353047.6	-	7	906	c.653C>T	c.(652-654)aCc>aTc	p.T218I	CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	218					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CTGTTTGTAGGTCGGGCTGTA	0.657																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(652-654)aCc>aTc		cathepsin B							103.0	100.0	101.0					8																	11705211		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11705211G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.653C>T	8.37:g.11705211G>A	ENSP00000345672:p.Thr218Ile					CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I	p.T218I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	7	906	-	all_epithelial(15;0.205)		218					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.653C>T	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333706	0.24167	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.17	4.2	0.49525	Peptidase C1A, papain C-terminal (2);	0.765746	0.12743	N	0.442868	D	0.82481	0.5046	M	0.75447	2.3	0.58432	D	0.999993	B;B;B;B;B	0.27498	0.113;0.005;0.067;0.002;0.18	B;B;B;B;B	0.31290	0.127;0.014;0.062;0.003;0.078	T	0.81996	-0.0676	10	0.66056	D	0.02	.	9.1832	0.37154	0.0834:0.0:0.7592:0.1573	.	155;218;124;218;155	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	I	218;155;218;218;218;218;218;218;218;124	ENSP00000415889:T218I;ENSP00000345672:T218I;ENSP00000435105:T218I;ENSP00000433215:T218I;ENSP00000409917:T218I;ENSP00000342070:T218I;ENSP00000432244:T218I;ENSP00000434217:T218I	ENSP00000342070:T218I	T	-	2	0	CTSB	11742620	0.991000	0.36638	0.965000	0.40720	0.355000	0.29361	3.354000	0.52254	2.397000	0.81536	0.561000	0.74099	ACC		0.657	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		53	141	0	0	0	1	0	53	141				
CENPJ	55835	broad.mit.edu	37	13	25486740	25486740	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:25486740G>T	ENST00000381884.4	-	2	609	c.424C>A	c.(424-426)Ctt>Att	p.L142I	CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	142					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTTTAAAAAGTGGGTCTTTA	0.388																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(424-426)Ctt>Att		centromere protein J							80.0	82.0	82.0					13																	25486740		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486740G>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.424C>A	13.37:g.25486740G>T	ENSP00000371308:p.Leu142Ile					CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I	p.L142I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	609	-		Lung SC(185;0.0225)|Breast(139;0.0602)	142					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.424C>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471191	0.84533	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.19105	2.17;2.17	5.9	5.9	0.94986	.	0.096581	0.46145	D	0.000306	T	0.48295	0.1492	M	0.77616	2.38	0.28203	N	0.927262	D	0.89917	1.0	D	0.68943	0.961	T	0.44528	-0.9322	10	0.52906	T	0.07	.	17.1723	0.86833	0.0:0.0:1.0:0.0	.	142	Q9HC77	CENPJ_HUMAN	I	142	ENSP00000371308:L142I;ENSP00000441090:L142I	ENSP00000371308:L142I	L	-	1	0	CENPJ	24384740	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.301000	0.72782	2.791000	0.96007	0.655000	0.94253	CTT		0.388	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		8	94	1	0	0.0809354	1	0.0831528	8	94				
FAM178A	55719	broad.mit.edu	37	10	102698451	102698451	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:102698451C>T	ENST00000238961.4	+	11	3154	c.2612C>T	c.(2611-2613)cCc>cTc	p.P871L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	871						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TCTTTGTTTCCCCTGGAGAAT	0.368																																						ENST00000238961.3																			0											c.(2611-2613)cCc>cTc		family with sequence similarity 178, member A							190.0	185.0	186.0					10																	102698451		2203	4300	6503	SO:0001583	missense	0							g.chr10:102698451C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2612C>T	10.37:g.102698451C>T	ENSP00000238961:p.Pro871Leu					FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L	p.P871L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			11	2760	+			871					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2612C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644368	0.87859	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.38560	1.14;1.13	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.61158	-0.7119	10	0.54805	T	0.06	-15.7672	19.2359	0.93858	0.0:1.0:0.0:0.0	.	871;871	Q8IX21;B1AL17	F178A_HUMAN;.	L	871	ENSP00000238961:P871L;ENSP00000359292:P871L	ENSP00000238961:P871L	P	+	2	0	FAM178A	102688441	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.534000	0.67167	2.894000	0.99253	0.591000	0.81541	CCC		0.368	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			12	159	0	0	0	1	0	12	159				
RIPK1	8737	broad.mit.edu	37	6	3083466	3083466	+	Missense_Mutation	SNP	G	G	A	rs149432620	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:3083466G>A	ENST00000259808.4	+	5	905	c.607G>A	c.(607-609)Gca>Aca	p.A203T	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T|RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGACGTCAACGCAAAGCCCAC	0.488																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(607-609)Gca>Aca		receptor (TNFRSF)-interacting serine-threonine kinase 1							117.0	100.0	106.0					6																	3083466		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3083466G>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.607G>A	6.37:g.3083466G>A	ENSP00000259808:p.Ala203Thr					RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T|RIPK1_ENST00000479389.1_3'UTR	p.A203T			Q13546	RIPK1_HUMAN			5	905	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	203			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.607G>A	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.067900	0.07228	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.61859	0.07;0.07;0.07	5.65	2.82	0.32997	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.412797	0.30830	N	0.008783	T	0.15955	0.0384	N	0.21583	0.68	0.34443	D	0.699796	B;B	0.31817	0.341;0.165	B;B	0.25506	0.024;0.061	T	0.05500	-1.0881	10	0.14252	T	0.57	-5.9342	6.6383	0.22895	0.2006:0.0:0.6631:0.1363	.	157;203	Q13546-2;Q13546	.;RIPK1_HUMAN	T	203;157;203	ENSP00000259808:A203T;ENSP00000442294:A157T;ENSP00000369773:A203T	ENSP00000259808:A203T	A	+	1	0	RIPK1	3028465	0.000000	0.05858	0.035000	0.18076	0.199000	0.23934	0.443000	0.21644	0.678000	0.31325	0.563000	0.77884	GCA		0.488	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		4	88	0	0	0	1	0	4	88				
HOXA11	3207	broad.mit.edu	37	7	27222531	27222531	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:27222531G>A	ENST00000006015.3	-	2	897	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA10_ENST00000396344.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	276					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.R276S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTGAGCATGCGGGACAGTTGC	0.458			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		1	Substitution - Missense(1)	p.R276S(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(826-828)Cgc>Tgc		homeobox A11							88.0	93.0	91.0					7																	27222531		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222531G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.826C>T	7.37:g.27222531G>A	ENSP00000006015:p.Arg276Cys						p.R276C	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	897	-			276					A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.826C>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419346	0.83559	.	.	ENSG00000005073	ENST00000006015	D	0.96396	-4.0	5.91	5.91	0.95273	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.072066	0.56097	D	0.000021	D	0.97776	0.9270	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98122	1.0426	10	0.87932	D	0	.	15.8613	0.79021	0.0:0.0:0.8639:0.1361	.	276	P31270	HXA11_HUMAN	C	276	ENSP00000006015:R276C	ENSP00000006015:R276C	R	-	1	0	HOXA11	27189056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.747000	0.55134	2.808000	0.96608	0.655000	0.94253	CGC		0.458	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			4	172	0	0	0	1	0	4	172				
OR4A16	81327	broad.mit.edu	37	11	55111605	55111605	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111605G>T	ENST00000314721.2	+	1	979	c.929G>T	c.(928-930)aGa>aTa	p.R310I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(928-930)aGa>aTa		olfactory receptor, family 4, subfamily A, member 16							31.0	32.0	32.0					11																	55111605		2201	4293	6494	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111605G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.929G>T	11.37:g.55111605G>T	ENSP00000325128:p.Arg310Ile						p.R310I	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	979	+			310					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.929G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	10.61	1.399324	0.25291	.	.	ENSG00000181961	ENST00000314721	T	0.38401	1.14	3.02	-0.365	0.12549	.	.	.	.	.	T	0.16811	0.0404	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.18561	0.022	T	0.22906	-1.0203	9	0.87932	D	0	.	3.838	0.08902	0.2306:0.4546:0.3147:0.0	.	310	Q8NH70	O4A16_HUMAN	I	310	ENSP00000325128:R310I	ENSP00000325128:R310I	R	+	2	0	OR4A16	54868181	0.000000	0.05858	0.015000	0.15790	0.034000	0.12701	-0.048000	0.11944	0.074000	0.16767	0.423000	0.28283	AGA		0.348	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		15	35	1	0	1.15088e-07	1	1.32794e-07	15	35				
KRTAP10-4	386672	broad.mit.edu	37	21	45993836	45993836	+	Silent	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:45993836C>T	ENST00000400374.3	+	1	231	c.201C>T	c.(199-201)tgC>tgT	p.C67C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	67	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCAGCCCCTGCTGCCCAGTGA	0.711																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(199-201)tgC>tgT		keratin associated protein 10-4							18.0	34.0	28.0					21																	45993836		2017	4206	6223	SO:0001819	synonymous_variant	386672					keratin filament		g.chr21:45993836C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.201C>T	21.37:g.45993836C>T						TSPEAR_ENST00000323084.4_Intron	p.C67C	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	231	+			67			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Silent	SNP	ENST00000400374.3	37	c.201C>T	CCDS42957.1																																																																																				0.711	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		23	139	0	0	0	1	0	23	139				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	203	0	0	0	1	0	6	203				
ABCC12	94160	broad.mit.edu	37	16	48117859	48117859	+	Silent	SNP	A	A	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:48117859A>G	ENST00000311303.3	-	28	4299	c.3954T>C	c.(3952-3954)gtT>gtC	p.V1318V	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1318	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGCAGTTGAGAACTGTGTTGA	0.512																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3952-3954)gtT>gtC		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							153.0	148.0	150.0					16																	48117859		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48117859A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3954T>C	16.37:g.48117859A>G						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.V1318V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			28	4299	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1318			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3954T>C	CCDS10730.1																																																																																				0.512	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		42	57	0	0	0	1	0	42	57				
MUC16	94025	broad.mit.edu	37	19	9072517	9072517	+	Missense_Mutation	SNP	G	G	T	rs200381081		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:9072517G>T	ENST00000397910.4	-	3	15132	c.14929C>A	c.(14929-14931)Caa>Aaa	p.Q4977K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4979	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCTGTTTGGGTGGTGATG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14929-14931)Caa>Aaa		mucin 16, cell surface associated		G	LYS/GLN	0,3896		0,0,1948	202.0	175.0	184.0		14929	-3.3	0.0	19		184	1,8285		0,1,4142	yes	missense	MUC16	NM_024690.2	53	0,1,6090	TT,TG,GG		0.0121,0.0,0.0082	benign	4977/14508	9072517	1,12181	1948	4143	6091	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072517G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14929C>A	19.37:g.9072517G>T	ENSP00000381008:p.Gln4977Lys						p.Q4977K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15132	-			4979			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14929C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.12	1.546548	0.27652	0.0	1.21E-4	ENSG00000181143	ENST00000397910	T	0.02258	4.37	2.47	-3.33	0.04958	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	.	.	.	B	0.16603	0.018	B	0.08055	0.003	T	0.47661	-0.9100	8	0.87932	D	0	.	1.6168	0.02705	0.1349:0.3671:0.2865:0.2116	.	4977	B5ME49	.	K	4977	ENSP00000381008:Q4977K	ENSP00000381008:Q4977K	Q	-	1	0	MUC16	8933517	0.000000	0.05858	0.000000	0.03702	0.844000	0.47949	-0.355000	0.07671	-0.570000	0.06022	0.282000	0.19409	CAA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	66	1	0	3.62473e-10	1	4.24773e-10	23	66				
OR51S1	119692	broad.mit.edu	37	11	4869860	4869860	+	Silent	SNP	A	A	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:4869860A>T	ENST00000322101.2	-	1	654	c.579T>A	c.(577-579)gcT>gcA	p.A193A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAAACGAGCCACATCTG	0.557																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(577-579)gcT>gcA		olfactory receptor, family 51, subfamily S, member 1							83.0	91.0	88.0					11																	4869860		2201	4298	6499	SO:0001819	synonymous_variant	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869860A>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.579T>A	11.37:g.4869860A>T						MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.A193A	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	654	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	193					B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	c.579T>A	CCDS31362.1																																																																																				0.557	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		8	68	0	0	0	1	0	8	68				
TMEM26	219623	broad.mit.edu	37	10	63170316	63170316	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:63170316C>T	ENST00000399298.3	-	6	1239	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	291						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGTTCTTCGCGGCAAAGAAC	0.512																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(871-873)Gcg>Acg		transmembrane protein 26							104.0	109.0	107.0					10																	63170316		2110	4226	6336	SO:0001583	missense	219623					integral to membrane		g.chr10:63170316C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.871G>A	10.37:g.63170316C>T	ENSP00000382237:p.Ala291Thr					TMEM26_ENST00000507507.1_5'UTR	p.A291T	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1239	-	Prostate(12;0.0112)		291					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.871G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331502	0.41297	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.585349	0.19210	N	0.119945	T	0.56891	0.2016	L	0.55481	1.735	0.80722	D	1	P	0.46142	0.873	B	0.38880	0.284	T	0.60850	-0.7181	9	0.51188	T	0.08	-10.3272	20.3967	0.98985	0.0:1.0:0.0:0.0	.	291	Q6ZUK4	TMM26_HUMAN	T	291	.	ENSP00000382237:A291T	A	-	1	0	TMEM26	62840322	0.183000	0.23186	0.007000	0.13788	0.042000	0.13812	2.667000	0.46808	2.829000	0.97493	0.655000	0.94253	GCG		0.512	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		26	48	0	0	0	1	0	26	48				
STRADB	55437	broad.mit.edu	37	2	202323545	202323545	+	Silent	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:202323545C>A	ENST00000194530.3	+	3	416	c.51C>A	c.(49-51)ctC>ctA	p.L17L	STRADB_ENST00000488196.1_3'UTR|STRADB_ENST00000392249.2_Silent_p.L17L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	17					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TTGAATCACTCAGACCTGAAA	0.408																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(49-51)ctC>ctA		STE20-related kinase adaptor beta							94.0	86.0	89.0					2																	202323545		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202323545C>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.51C>A	2.37:g.202323545C>A						STRADB_ENST00000392249.2_Silent_p.L17L|STRADB_ENST00000488196.1_3'UTR	p.L17L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			3	416	+			17					Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.51C>A	CCDS2348.1																																																																																				0.408	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		13	201	1	0	5.50884e-06	1	6.26004e-06	13	201				
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					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.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(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)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(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.(328-330)tGg>tAg		cyclin-dependent kinase inhibitor 2A							18.0	20.0	20.0					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	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.chr9:21971029C>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.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L	p.W110*	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	599	-		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)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	44	0	0	0	1	0	6	44				
ZNF668	79759	broad.mit.edu	37	16	31072792	31072792	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:31072792C>T	ENST00000538906.1	-	3	2241	c.1457G>A	c.(1456-1458)tGc>tAc	p.C486Y	ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCATCTTGGCATTCCACATG	0.672																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1456-1458)tGc>tAc		zinc finger protein 668							69.0	71.0	71.0					16																	31072792		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072792C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1457G>A	16.37:g.31072792C>T	ENSP00000440149:p.Cys486Tyr					ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y	p.C486Y	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2241	-			486					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1457G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	7.114	0.576537	0.13686	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	4.81	3.8	0.43715	.	0.458811	0.21740	N	0.069836	T	0.04588	0.0125	N	0.08118	0	0.35776	D	0.821282	B	0.23128	0.08	B	0.17433	0.018	T	0.21211	-1.0252	10	0.87932	D	0	-32.3661	9.3578	0.38177	0.2288:0.7712:0.0:0.0	.	486	Q96K58	ZN668_HUMAN	Y	509;486;486;486;486	ENSP00000442573:C509Y;ENSP00000441349:C486Y;ENSP00000440149:C486Y;ENSP00000378434:C486Y;ENSP00000300849:C486Y	ENSP00000300849:C486Y	C	-	2	0	ZNF668	30980293	0.996000	0.38824	0.998000	0.56505	0.387000	0.30353	2.958000	0.49145	2.523000	0.85059	0.561000	0.74099	TGC		0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		39	76	0	0	0	1	0	39	76				
SSPO	23145	broad.mit.edu	37	7	149489293	149489293	+	RNA	SNP	G	G	A	rs569985812		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:149489293G>A	ENST00000378016.2	+	0	5538							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGGCAGCCCGGGTAAGGGGG	0.672																																						ENST00000378016.2																			0													SCO-spondin							19.0	20.0	20.0					7																	149489293		1921	4116	6037			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489293G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489293G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5538	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	24	0	0	0	1	0	5	24				
CLSTN2	64084	broad.mit.edu	37	3	140281990	140281990	+	Silent	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:140281990C>T	ENST00000458420.3	+	15	2617	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	809					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCAGCCTCCCTTCCTCCAGT	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2425-2427)ccC>ccT		calsyntenin 2							164.0	141.0	149.0					3																	140281990		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281990C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2427C>T	3.37:g.140281990C>T		HNSCC(16;0.037)					p.P809P	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			15	2617	+			809					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2427C>T	CCDS3112.1																																																																																				0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		9	104	0	0	0	1	0	9	104				
DCLRE1A	9937	broad.mit.edu	37	10	115609945	115609945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:115609945C>A	ENST00000361384.2	-	2	1836	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	307					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.E307*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGTGTCTTCATCACTTTGA	0.398								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			1	Substitution - Nonsense(1)	p.E307*(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(919-921)Gaa>Taa	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							139.0	130.0	133.0					10																	115609945		2203	4300	6503	SO:0001587	stop_gained	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609945C>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.919G>T	10.37:g.115609945C>A	ENSP00000355185:p.Glu307*					DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1836	-			307					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	ENST00000361384.2	37	c.919G>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	46	12.649466	0.99685	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.4442	18.7178	0.91682	0.0:1.0:0.0:0.0	.	.	.	.	X	307	.	ENSP00000355185:E307X	E	-	1	0	DCLRE1A	115599935	0.992000	0.36948	0.963000	0.40424	0.824000	0.46624	3.798000	0.55522	2.857000	0.98124	0.650000	0.86243	GAA		0.398	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		65	118	1	0	3.30712e-30	1	4.00055e-30	65	118				
H1FNT	341567	broad.mit.edu	37	12	48723559	48723559	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:48723559G>A	ENST00000335017.1	+	1	797	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	162	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CAGCCCCTTCGCAAGGCGGCC	0.716																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(484-486)cGc>cAc		H1 histone family, member N, testis-specific							13.0	13.0	13.0					12																	48723559		2170	4238	6408	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723559G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.485G>A	12.37:g.48723559G>A	ENSP00000334805:p.Arg162His						p.R162H	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	797	+			162			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.485G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729809	0.89390	.	.	ENSG00000187166	ENST00000335017	T	0.20463	2.07	4.83	1.56	0.23342	.	0.000000	0.32753	N	0.005684	T	0.32376	0.0827	L	0.50333	1.59	0.26077	N	0.981143	D	0.89917	1.0	D	0.64687	0.928	T	0.04153	-1.0973	10	0.72032	D	0.01	-12.7369	7.9451	0.29982	0.0987:0.4906:0.4108:0.0	.	162	Q75WM6	H1FNT_HUMAN	H	162	ENSP00000334805:R162H	ENSP00000334805:R162H	R	+	2	0	H1FNT	47009826	0.130000	0.22417	0.374000	0.26016	0.416000	0.31233	0.474000	0.22148	0.553000	0.29044	0.650000	0.86243	CGC		0.716	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		3	4	0	0	0	1	0	3	4				
IKZF1	10320	broad.mit.edu	37	7	50455076	50455076	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:50455076G>A	ENST00000331340.3	+	6	778	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TATTGTGGCCGAAGCTATAAA	0.473			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(622-624)cGa>cAa		IKAROS family zinc finger 1 (Ikaros)							55.0	56.0	55.0					7																	50455076		1865	4095	5960	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50455076G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.623G>A	7.37:g.50455076G>A	ENSP00000331614:p.Arg208Gln					IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000359197.5_Intron	p.R208Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			6	778	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	208					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.623G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.757812	0.96898	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	T;T;T	0.18960	2.18;2.18;2.18	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	.	.	.	0.80722	D	1	P;P	0.51351	0.92;0.944	B;P	0.44811	0.341;0.461	T	0.03344	-1.1046	9	0.66056	D	0.02	-14.6208	19.9886	0.97358	0.0:0.0:1.0:0.0	.	121;208	Q13422-2;Q13422	.;IKZF1_HUMAN	Q	121;208;121	ENSP00000342750:R121Q;ENSP00000331614:R208Q;ENSP00000396554:R121Q	ENSP00000331614:R208Q	R	+	2	0	IKZF1	50422570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.726000	0.93360	0.655000	0.94253	CGA		0.473	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		14	44	0	0	0	1	0	14	44				
SGK223	157285	broad.mit.edu	37	8	8185589	8185589	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:8185589G>A	ENST00000520004.1	-	5	2967	c.2703C>T	c.(2701-2703)ggC>ggT	p.G901G	SGK223_ENST00000330777.4_Silent_p.G901G			Q86YV5	SG223_HUMAN		903							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCCCGCAGCCGCCTCTGTTGC	0.657																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2701-2703)ggC>ggT									49.0	57.0	55.0					8																	8185589		1865	4083	5948	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185589G>A																												ENST00000520004.1:c.2703C>T	8.37:g.8185589G>A						SGK223_ENST00000330777.4_Silent_p.G901G	p.G901G			Q86YV5	SG223_HUMAN			5	2967	-			901					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.2703C>T	CCDS43706.1																																																																																				0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			15	222	0	0	0	1	0	15	222				
OR14K1	343170	broad.mit.edu	37	1	247902032	247902032	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr1:247902032T>C	ENST00000283225.2	+	1	116	c.116T>C	c.(115-117)aTg>aCg	p.M39T	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GCTGTGCTGATGAATTTAGTC	0.448																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(115-117)aTg>aCg		olfactory receptor, family 14, subfamily K, member 1							142.0	138.0	140.0					1																	247902032		2122	4237	6359	SO:0001583	missense	343170							g.chr1:247902032T>C	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.116T>C	1.37:g.247902032T>C	ENSP00000283225:p.Met39Thr					RP11-634B7.4_ENST00000449298.1_RNA	p.M39T							1	116	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.116T>C		.	.	.	.	.	.	.	.	.	.	T	8.263	0.811559	0.16537	.	.	ENSG00000153230	ENST00000283225	T	0.36340	1.26	3.48	-6.58	0.01836	.	0.753517	0.10252	U	0.696998	T	0.35307	0.0927	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49943	-0.8885	7	0.87932	D	0	.	10.1761	0.42939	0.1319:0.0:0.7386:0.1295	.	.	.	.	T	39	ENSP00000283225:M39T	ENSP00000283225:M39T	M	+	2	0	OR14K1	245968655	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.146000	0.16180	-1.734000	0.01355	-0.893000	0.02921	ATG		0.448	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		14	72	0	0	0	1	0	14	72				
FBXL13	222235	broad.mit.edu	37	7	102604004	102604004	+	Nonsense_Mutation	SNP	G	G	A	rs202190502		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:102604004G>A	ENST00000313221.4	-	8	1126	c.700C>T	c.(700-702)Cga>Tga	p.R234*	FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000393772.2_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	234										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTTTGGGTCGGAGAAGACAA	0.338																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(700-702)Cga>Tga		F-box and leucine-rich repeat protein 13		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	90.0	89.0		700,700	4.9	0.9	7		89	0,8600		0,0,4300	no	stop-gained,stop-gained	FBXL13	NM_001111038.1,NM_145032.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	234/691,234/736	102604004	1,13005	2203	4300	6503	SO:0001587	stop_gained	222235							g.chr7:102604004G>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.700C>T	7.37:g.102604004G>A	ENSP00000321927:p.Arg234*					FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234*	p.R234*			Q8NEE6	FXL13_HUMAN			8	1126	-			234					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	c.700C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	38	7.150734	0.98096	2.27E-4	0.0	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	.	.	.	5.83	4.92	0.64577	.	0.330399	0.23569	N	0.046770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3558	0.74425	0.0:0.0:0.8434:0.1566	.	.	.	.	X	234;234;234;161;234;234;234;234;234	.	ENSP00000321927:R234X	R	-	1	2	FBXL13	102391240	1.000000	0.71417	0.908000	0.35775	0.881000	0.50899	3.129000	0.50500	1.383000	0.46405	0.650000	0.86243	CGA		0.338	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		41	154	0	0	0	1	0	41	154				
OR2F2	135948	broad.mit.edu	37	7	143632509	143632509	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143632509T>C	ENST00000408955.2	+	1	251	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F62L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CATGTATTTCTTTCTCACCAA	0.502																																						ENST00000408955.2																			1	Substitution - Missense(1)	p.F62L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(184-186)Ttt>Ctt		olfactory receptor, family 2, subfamily F, member 2							241.0	233.0	236.0					7																	143632509		2203	4298	6501	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632509T>C		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.184T>C	7.37:g.143632509T>C	ENSP00000386222:p.Phe62Leu						p.F62L	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	251	+	Melanoma(164;0.0903)		62					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.184T>C	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765883	0.69878	.	.	ENSG00000221910	ENST00000408955	T	0.13778	2.56	3.49	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.23926	0.0579	L	0.42686	1.345	0.36993	D	0.894899	D	0.71674	0.998	D	0.75484	0.986	T	0.07366	-1.0776	10	0.87932	D	0	-39.6373	6.787	0.23679	0.0:0.1182:0.0:0.8818	.	62	O95006	OR2F2_HUMAN	L	62	ENSP00000386222:F62L	ENSP00000386222:F62L	F	+	1	0	OR2F2	143263442	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	2.135000	0.42112	0.531000	0.28639	0.402000	0.26972	TTT		0.502	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			24	455	0	0	0	1	0	24	455				
KAT6B	23522	broad.mit.edu	37	10	76735813	76735813	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:76735813G>A	ENST00000287239.4	+	8	2207	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	573	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CGTATGCGTCGTAAAACTGAA	0.453																																						ENST00000287239.4																			0											c.(1717-1719)cGt>cAt		K(lysine) acetyltransferase 6B							115.0	105.0	108.0					10																	76735813		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735813G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1718G>A	10.37:g.76735813G>A	ENSP00000287239:p.Arg573His					KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron	p.R573H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	2207	+			573			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1718G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	8.462	0.855458	0.17106	.	.	ENSG00000156650	ENST00000287239	T	0.61859	0.07	6.08	6.08	0.98989	.	0.000000	0.47852	D	0.000215	T	0.44644	0.1303	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.27571	-1.0070	9	.	.	.	-7.2212	18.8453	0.92203	0.0:0.0:1.0:0.0	.	573	Q8WYB5	KAT6B_HUMAN	H	573	ENSP00000287239:R573H	.	R	+	2	0	KAT6B	76405819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.154000	0.50693	2.890000	0.99128	0.655000	0.94253	CGT		0.453	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	141	0	0	0	1	0	6	141				
TOP2A	7153	broad.mit.edu	37	17	38564814	38564814	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:38564814G>T	ENST00000423485.1	-	11	1430	c.1272C>A	c.(1270-1272)aaC>aaA	p.N424K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	424					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACACTTCTTGTTTAACTGGA	0.363																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1270-1272)aaC>aaA		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						119.0	111.0	114.0					17																	38564814		1869	4099	5968	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564814G>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1272C>A	17.37:g.38564814G>T	ENSP00000411532:p.Asn424Lys						p.N424K	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		11	1430	-		Breast(137;0.00328)	424					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1272C>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323097	0.41096	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21361	2.01	5.5	3.17	0.36434	DNA topoisomerase, type IIA, subunit B, domain 2 (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	N	0.16037	0.36	0.58432	D	0.999994	B	0.23650	0.089	B	0.23275	0.045	T	0.10730	-1.0617	10	0.06236	T	0.91	.	8.9993	0.36072	0.2983:0.0:0.7017:0.0	.	424	P11388	TOP2A_HUMAN	K	424;504;447;460	ENSP00000411532:N424K	ENSP00000269577:N504K	N	-	3	2	TOP2A	35818340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.246000	0.43142	1.344000	0.45657	0.591000	0.81541	AAC		0.363	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			4	83	1	0	0.00909568	1	0.00974537	4	83				
CCR8	1237	broad.mit.edu	37	3	39373836	39373836	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:39373836T>C	ENST00000326306.4	+	2	152	c.14T>C	c.(13-15)cTt>cCt	p.L5P	CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Missense_Mutation_p.L5P	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	5					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GATTATACACTTGACCTCAGT	0.413																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(13-15)cTt>cCt		chemokine (C-C motif) receptor 8							126.0	116.0	119.0					3																	39373836		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39373836T>C	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.14T>C	3.37:g.39373836T>C	ENSP00000326432:p.Leu5Pro					CCR8_ENST00000414803.1_Missense_Mutation_p.L5P|CCR8_ENST00000545843.1_5'UTR	p.L5P	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	152	+			5					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.14T>C	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101514	0.37048	.	.	ENSG00000179934	ENST00000326306;ENST00000414803	T;T	0.28255	1.62;1.62	5.24	-3.89	0.04193	.	1.897890	0.02662	N	0.107581	T	0.17534	0.0421	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	10	0.25106	T	0.35	.	13.1796	0.59647	0.0:0.6495:0.0:0.3505	.	5	P51685	CCR8_HUMAN	P	5	ENSP00000326432:L5P;ENSP00000390104:L5P	ENSP00000326432:L5P	L	+	2	0	CCR8	39348840	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.873000	0.04214	-0.488000	0.06726	0.260000	0.18958	CTT		0.413	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		43	58	0	0	0	1	0	43	58				
OR5K1	26339	broad.mit.edu	37	3	98188566	98188566	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:98188566T>C	ENST00000332650.5	+	1	243	c.146T>C	c.(145-147)aTa>aCa	p.I49T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCACTGATATTTACACAC	0.458																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(145-147)aTa>aCa		olfactory receptor, family 5, subfamily K, member 1							254.0	250.0	251.0					3																	98188566		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188566T>C	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.146T>C	3.37:g.98188566T>C	ENSP00000373193:p.Ile49Thr						p.I49T	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	243	+			49					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.146T>C	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527135	0.64860	.	.	ENSG00000232382	ENST00000332650	T	0.08458	3.09	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000535	T	0.23649	0.0572	L	0.53617	1.68	0.26851	N	0.968163	D	0.89917	1.0	D	0.91635	0.999	T	0.02269	-1.1185	10	0.66056	D	0.02	-18.4959	12.9721	0.58517	0.0:0.0:0.0:1.0	.	49	Q8NHB7	OR5K1_HUMAN	T	49	ENSP00000373193:I49T	ENSP00000373193:I49T	I	+	2	0	OR5K1	99671256	0.993000	0.37304	0.026000	0.17262	0.005000	0.04900	3.875000	0.56108	1.953000	0.56701	0.460000	0.39030	ATA		0.458	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			21	295	0	0	0	1	0	21	295				
RP11-275O4.3	0	broad.mit.edu	37	1	227698346	227698346	+	lincRNA	DEL	C	C	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr1:227698346delC	ENST00000422837.1	-	0	569																											GAGGAGGAGGCAGGGTGAGTC	0.592																																						ENST00000422837.1																			0																																																			0							g.chr1:227698346delC																													1.37:g.227698346delC														0	569	-									RNA	DEL	ENST00000422837.1	37																																																																																						0.592	RP11-275O4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000091687.1			2	4						2	4	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133884973	133884973	+	Splice_Site	DEL	A	A	-	rs35774154		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133884973delA	ENST00000361069.4	+	1	505	c.372delA	c.(370-372)cta>ct	p.L124fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	124	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCGCCTAGGTAAGCGCG	0.687																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.e1+1		laminin, gamma 3							12.0	8.0	9.0					9																	133884973		2118	4201	6319	SO:0001630	splice_region_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133884973delA	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.373+1A>-	9.37:g.133884973delA						LAMC3_ENST00000480883.1_3'UTR	p.L124_splice	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	1	505	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	124			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Splice_Site	DEL	ENST00000361069.4	37	c.373_splice	CCDS6938.1																																																																																				0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	Frame_Shift_Del	2	4						2	4	---	---	---	---
TUBBP5	643224	broad.mit.edu	37	9	141069453	141069453	+	RNA	DEL	C	C	-	rs530288047	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:141069453delC	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		GTCTGCTCCTCCTTCTCGCGC	0.662														11	0.00219649	0.0038	0.0014	5008	,	,		11575	0.002		0.003	False		,,,				2504	0.0					ENST00000503395.1																			0																																																			0							g.chr9:141069453delC	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069453delC														0	1023	+									RNA	DEL	ENST00000503395.1	37																																																																																						0.662	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		2	4						2	4	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-	rs551280800		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(850-870)del		zinc finger, MIZ-type containing 1																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.850_870delGCAGCAGCGGCAGTGGCAGCA	10.37:g.81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENSP00000334474:p.Ala284_Ala290del					ZMIZ1_ENST00000478357.1_3'UTR	p.AAAAVAA284del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1422_1442	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		284			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.850_870delGCAGCAGCGGCAGTGGCAGCA	CCDS7357.1																																																																																				0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		37	100						37	100	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		10	241						10	241	---	---	---	---
UNKL	64718	broad.mit.edu	37	16	1417745	1417745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:1417745delC	ENST00000389221.4	-	13	1690	c.1691delG	c.(1690-1692)ggafs	p.G564fs	UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	564					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CAGCTCAGCTCCGTTTGGACT	0.657																																						ENST00000389221.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(1690-1692)gafs		unkempt family zinc finger-like							26.0	23.0	24.0					16																	1417745		2175	4281	6456	SO:0001589	frameshift_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1417745delC	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1691delG	16.37:g.1417745delC	ENSP00000373873:p.Gly564fs					UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs|UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs	p.G564fs	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN			13	1690	-		Hepatocellular(780;0.0893)	564					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Frame_Shift_Del	DEL	ENST00000389221.4	37	c.1691delG	CCDS53981.1																																																																																				0.657	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		2	4						2	4	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73780866	73780866	+	5'UTR	DEL	T	T	-	rs375403107		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:73780866delT	ENST00000589666.1	+	0	15				MIR4738_ENST00000579134.1_RNA|UNK_ENST00000293218.3_Frame_Shift_Del_p.F45fs|H3F3B_ENST00000586607.1_Intron	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTCTTCACGTTCTCGTGGCG	0.617																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(133-135)tcfs		unkempt family zinc finger							22.0	28.0	26.0					17																	73780866		1908	4116	6024	SO:0001623	5_prime_UTR_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780866delT	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.-96T>-	17.37:g.73780866delT						H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR	p.F45fs			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	133	+			0						Frame_Shift_Del	DEL	ENST00000589666.1	37	c.133delT	CCDS45778.2																																																																																				0.617	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		8	45						8	45	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54314138	54314148	+	Frame_Shift_Del	DEL	CACTCTGGTTC	CACTCTGGTTC	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:54314138_54314148delCACTCTGGTTC	ENST00000324134.6	-	3	933_943	c.765_775delGAACCAGAGTG	c.(763-777)atgaaccagagtgccfs	p.MNQSA255fs	NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	255	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATTCCGTGGCACTCTGGTTCATCTCCCTGC	0.564																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(763-777)atccfs		NLR family, pyrin domain containing 12																																				SO:0001589	frameshift_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314138_54314148delCACTCTGGTTC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.765_775delGAACCAGAGTG	19.37:g.54314138_54314148delCACTCTGGTTC	ENSP00000319377:p.Met255fs					NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs	p.MNQSA255fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	933_943	-	Ovarian(34;0.19)		255			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Frame_Shift_Del	DEL	ENST00000324134.6	37	c.765_775delGAACCAGAGTG	CCDS12864.1																																																																																				0.564	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		14	6						14	6	---	---	---	---
UCKL1	54963	broad.mit.edu	37	20	62585381	62585381	+	Intron	DEL	G	G	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr20:62585381delG	ENST00000354216.6	-	1	156				UCKL1_ENST00000369908.5_5'Flank|AL118506.1_ENST00000595604.1_Frame_Shift_Del_p.L125fs|UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000369892.3_Intron	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAATGAGGCTGGGGGGAGGAG	0.597																																						ENST00000595604.1																			0											c.(373-375)ctfs																																						SO:0001627	intron_variant	0							g.chr20:62585381delG	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2231C>-	20.37:g.62585381delG						UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000354216.6_Intron	p.L125fs							1	375	+								B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	ENST00000354216.6	37	c.375delG	CCDS13547.1																																																																																				0.597	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		2	4						2	4	---	---	---	---
LRCH2	57631	broad.mit.edu	37	X	114361427	114361427	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:114361427delT	ENST00000317135.8	-	16	1800	c.1770delA	c.(1768-1770)acafs	p.T590fs	LRCH2_ENST00000538422.1_Intron|SNORA35_ENST00000607417.1_RNA	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	590										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CTGGAGATTGTGTTGACATAT	0.284																																						ENST00000317135.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(1768-1770)acfs		leucine-rich repeats and calponin homology (CH) domain containing 2							50.0	41.0	44.0					X																	114361427		1784	3998	5782	SO:0001589	frameshift_variant	57631							g.chrX:114361427delT	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1770delA	X.37:g.114361427delT	ENSP00000325091:p.Thr590fs					LRCH2_ENST00000538422.1_Intron	p.T590fs	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN			16	1800	-			590					F5H2T1|Q08AD5|Q9HA88|Q9P233	Frame_Shift_Del	DEL	ENST00000317135.8	37	c.1770delA	CCDS48155.1																																																																																				0.284	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		2	4						2	4	---	---	---	---
