#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IFI16	3428	broad.mit.edu	37	1	159021837	159021837	+	Silent	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021837T>G	ENST00000295809.7	+	10	2289	c.2034T>G	c.(2032-2034)ctT>ctG	p.L678L	IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000359709.3_Silent_p.L622L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	678	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAATCAGCTTTGCTCACAAA	0.403																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2032-2034)ctT>ctG		interferon, gamma-inducible protein 16							66.0	70.0	68.0					1																	159021837		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021837T>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2034T>G	1.37:g.159021837T>G			Somatic				IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L	p.L678L			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			10	2289	+	all_hematologic(112;0.0429)		678			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.2034T>G		.	.	.	.	.	.	.	.	.	.	T	3.349	-0.132994	0.06711	.	.	ENSG00000163565	ENST00000448393	.	.	.	4.85	-0.289	0.12851	.	.	.	.	.	T	0.09113	0.0225	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35822	-0.9773	4	.	.	.	.	4.2687	0.10776	0.0:0.1859:0.3422:0.4719	.	.	.	.	C	387	.	.	F	+	2	0	IFI16	157288461	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.189000	0.17037	-0.218000	0.10018	0.496000	0.49642	TTT		0.403	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		35	53	35	53	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159021848	159021848	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021848C>A	ENST00000295809.7	+	10	2300	c.2045C>A	c.(2044-2046)aCt>aAt	p.T682N	IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	682	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGCTCACAAACTAAAGGAAGT	0.393																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2044-2046)aCt>aAt		interferon, gamma-inducible protein 16							61.0	65.0	64.0					1																	159021848		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021848C>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2045C>A	1.37:g.159021848C>A	ENSP00000295809:p.Thr682Asn		Somatic				IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N	p.T682N			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			10	2300	+	all_hematologic(112;0.0429)		682			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.2045C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.139|8.139	0.784695|0.784695	0.16189|0.16189	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48;2.48	4.85|4.85	-3.69|-3.69	0.04450|0.04450	.|.	.|.	.|.	.|.	.|.	T|T	0.02610|0.02610	0.0079|0.0079	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20368	.|0.044;0.001;0.008	.|B;B;B	.|0.26202	.|0.067;0.002;0.018	T|T	0.47407|0.47407	-0.9120|-0.9120	5|9	.|0.49607	.|T	.|0.09	.|.	1.3964|1.3964	0.02261|0.02261	0.4689:0.1985:0.1489:0.1837|0.4689:0.1985:0.1489:0.1837	.|.	.|630;570;626	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	I|N	391|311;682;570;626;626;630	.|ENSP00000295809:T682N;ENSP00000342741:T570N;ENSP00000357113:T626N;ENSP00000357114:T626N;ENSP00000394935:T630N	.|ENSP00000295809:T682N	L|T	+|+	1|2	2|0	IFI16|IFI16	157288472|157288472	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.099000|-1.099000	0.03343|0.03343	-0.270000|-0.270000	0.09285|0.09285	0.609000|0.609000	0.83330|0.83330	CTA|ACT		0.393	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		36	54	36	54	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169580817	169580817	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:169580817A>G	ENST00000263686.6	-	7	1097	c.1060T>C	c.(1060-1062)Tgc>Cgc	p.C354R	SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	354	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CCGGGCTGGCACTCAAATTTA	0.552																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1060-1062)Tgc>Cgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						109.0	107.0	108.0					1																	169580817		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169580817A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1060T>C	1.37:g.169580817A>G	ENSP00000263686:p.Cys354Arg		Somatic				SELP_ENST00000367794.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron	p.C354R	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	P16109	LYAM3_HUMAN			7	1097	-	all_hematologic(923;0.208)		354			Sushi 3.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1060T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.715008	0.30413	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	D;D;D	0.99778	-6.73;-6.73;-6.73	5.22	2.88	0.33553	Complement control module (2);Sushi/SCR/CCP (3);	0.189023	0.38326	N	0.001728	D	0.99764	0.9904	H	0.98996	4.395	0.27306	N	0.957456	D;D;D	0.69078	0.984;0.984;0.997	P;P;D	0.65987	0.899;0.899;0.94	D	0.99958	1.1668	10	0.87932	D	0	-6.8357	5.8124	0.18473	0.7442:0.1691:0.0867:0.0	.	354;354;354	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	R	354;353;354;354;292;292	ENSP00000263686:C354R;ENSP00000356767:C292R;ENSP00000356762:C292R	ENSP00000263686:C354R	C	-	1	0	SELP	167847441	0.825000	0.29262	0.132000	0.22025	0.190000	0.23558	3.225000	0.51246	0.310000	0.22990	0.533000	0.62120	TGC		0.552	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		4	104	4	104	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183093828	183093828	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:183093828G>A	ENST00000258341.4	+	14	2721	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	822	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAACGGCCCTGTGAGACTTTG	0.498																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2464-2466)Gtg>Atg		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						121.0	112.0	115.0					1																	183093828		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093828G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2464G>A	1.37:g.183093828G>A	ENSP00000258341:p.Val822Met		Somatic					p.V822M	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			14	2721	+			822			Laminin EGF-like 7.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2464G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837184	0.32513	.	.	ENSG00000135862	ENST00000258341	T	0.63417	-0.04	5.51	4.4	0.53042	EGF-like, laminin (3);	0.328242	0.31210	N	0.008044	T	0.59756	0.2217	M	0.72894	2.215	0.25693	N	0.985664	B	0.33477	0.413	B	0.35813	0.211	T	0.54768	-0.8244	10	0.33141	T	0.24	.	10.5085	0.44847	0.0831:0.1379:0.779:0.0	.	822	P11047	LAMC1_HUMAN	M	822	ENSP00000258341:V822M	ENSP00000258341:V822M	V	+	1	0	LAMC1	181360451	1.000000	0.71417	0.965000	0.40720	0.395000	0.30598	4.144000	0.58057	2.587000	0.87381	0.650000	0.86243	GTG		0.498	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		36	61	36	61	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197297963	197297963	+	Missense_Mutation	SNP	C	C	T	rs62635651		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:197297963C>T	ENST00000367400.3	+	2	617	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	161	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> V (in RP12). {ECO:0000269|PubMed:10508521}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAAATGGGGCCGTGTGCCAG	0.507																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CM992147	CRB1	M	rs62635651	c.(481-483)gCc>gTc		crumbs homolog 1 (Drosophila)							85.0	67.0	73.0					1																	197297963		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297963C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.482C>T	1.37:g.197297963C>T	ENSP00000356370:p.Ala161Val		Somatic				CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V	p.A161V	NM_201253.2	NP_957705.1	WXS	Illumina GAIIx	Phase_I	P82279	CRUM1_HUMAN			2	617	+			161		A -> V (in RP12).	EGF-like 4; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.482C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121169	0.56613	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.52	5.52	0.82312	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97570	0.9204	M	0.91038	3.17	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.49;1.0;1.0	D;D;B;D;D	0.91635	0.998;0.995;0.246;0.999;0.998	D	0.98006	1.0363	9	0.87932	D	0	.	19.8125	0.96553	0.0:1.0:0.0:0.0	rs62635651	161;92;161;161;186	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	V	92;161;161;161	ENSP00000438786:A92V;ENSP00000438091:A161V;ENSP00000356370:A161V;ENSP00000356369:A161V	ENSP00000356369:A161V	A	+	2	0	CRB1	195564586	1.000000	0.71417	0.177000	0.23020	0.097000	0.18754	7.354000	0.79424	2.745000	0.94114	0.655000	0.94253	GCC		0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		7	26	7	26	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237285745	237285745	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:237285745C>A	ENST00000409907.3	-	13	1836		c.e13+1		IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGTGTACTCACCAATGTAATC	0.418																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.e13+1		IQ motif containing with AAA domain 1							106.0	102.0	103.0					2																	237285745		1896	4122	6018	SO:0001630	splice_region_variant	79781						ATP binding	g.chr2:237285745C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1561+1G>T	2.37:g.237285745C>A			Somatic				IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site		NM_024726.4	NP_079002.3	WXS	Illumina GAIIx	Phase_I	Q86XH1	IQCA1_HUMAN			13	1836	-								B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Splice_Site	SNP	ENST00000409907.3	37		CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534998	0.45073	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCA1	236950484	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	6.234000	0.72326	2.652000	0.90054	0.655000	0.94253	.		0.418	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	Intron	22	28	22	28	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540777	55540777	+	Silent	SNP	T	T	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:55540777T>A	ENST00000220676.1	+	4	4483	c.4335T>A	c.(4333-4335)tcT>tcA	p.S1445S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1445					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACGGACTTCTGAAGAACCAG	0.343																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4333-4335)tcT>tcA		retinitis pigmentosa 1 (autosomal dominant)							55.0	58.0	57.0					8																	55540777		2202	4299	6501	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540777T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4335T>A	8.37:g.55540777T>A			Somatic					p.S1445S	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4483	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1445						Silent	SNP	ENST00000220676.1	37	c.4335T>A	CCDS6160.1																																																																																				0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		22	51	22	51	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887029	25887029	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:25887029G>A	ENST00000376351.3	+	11	2833	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	825					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACCACGTGAGAGACCAAACG	0.493																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2473-2475)aGa>aAa		G protein-coupled receptor 158							119.0	129.0	125.0					10																	25887029		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887029G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2474G>A	10.37:g.25887029G>A	ENSP00000365529:p.Arg825Lys		Somatic				GPR158_ENST00000490549.1_3'UTR	p.R825K	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	2833	+			825					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2474G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382961	0.95967	.	.	ENSG00000151025	ENST00000376351	T	0.63417	-0.04	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.75443	0.3850	M	0.68317	2.08	0.41839	D	0.990112	P	0.52316	0.952	P	0.57101	0.813	T	0.73043	-0.4107	10	0.40728	T	0.16	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	825	Q5T848	GP158_HUMAN	K	825	ENSP00000365529:R825K	ENSP00000365529:R825K	R	+	2	0	GPR158	25927035	1.000000	0.71417	0.330000	0.25442	0.919000	0.55068	6.343000	0.72986	2.779000	0.95612	0.650000	0.86243	AGA		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		16	61	16	61	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		26	54	26	54	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55658642	55658642	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:55658642G>C	ENST00000449290.2	+	7	985	c.893G>C	c.(892-894)aGt>aCt	p.S298T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGAGCCAATAGTCATATCTTC	0.333																																						ENST00000449290.2																			0											c.(892-894)aGt>aCt		tripartite motif-containing 51							69.0	74.0	72.0					11																	55658642		2053	3905	5958	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658642G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.893G>C	11.37:g.55658642G>C	ENSP00000395086:p.Ser298Thr		Somatic				TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	p.S298T	NM_032681.3	NP_116070.2	WXS	Illumina GAIIx	Phase_I	Q9BSJ1	SPRY5_HUMAN			7	985	+			298			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.893G>C		.	.	.	.	.	.	.	.	.	.	.	2.232	-0.375934	0.05034	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04654	3.58;3.58	0.892	0.892	0.19230	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.07773	0.0195	M	0.86028	2.79	0.20196	N	0.999927	B	0.16396	0.017	B	0.16289	0.015	T	0.39781	-0.9597	9	0.21014	T	0.42	.	5.4053	0.16318	0.0:0.0:1.0:0.0	.	298	Q9BSJ1	SPRY5_HUMAN	T	298;155	ENSP00000395086:S298T;ENSP00000244891:S155T	ENSP00000244891:S155T	S	+	2	0	SPRYD5	55415218	0.127000	0.22367	0.391000	0.26233	0.447000	0.32167	0.868000	0.27982	0.159000	0.19401	0.162000	0.16502	AGT		0.333	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		28	45	28	45	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2566835	2566835	+	Silent	SNP	C	C	T	rs527755968		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr12:2566835C>T	ENST00000347598.4	+	5	720	c.720C>T	c.(718-720)cgC>cgT	p.R240R	CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399655.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	240					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCCTTCCGCGTGCTGCGCC	0.552																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(718-720)cgC>cgT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						161.0	180.0	174.0					12																	2566835		2121	4231	6352	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566835C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.720C>T	12.37:g.2566835C>T			Somatic				CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R	p.R240R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina GAIIx	Phase_I	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	985	+			240					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.720C>T	CCDS44788.1																																																																																				0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		20	217	20	217	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11532900	11532900	+	Splice_Site	SNP	C	C	T	rs141702885	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:11532900C>T	ENST00000262442.4	+	7	1585	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DNAH9_ENST00000454412.2_Splice_Site_p.T506M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	506	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCAAAGCACGGTAGGGTTG	0.507													C|||	3	0.000599042	0.0	0.0	5008	,	,		16577	0.003		0.0	False		,,,				2504	0.0					ENST00000262442.4																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1516-1518)aCg>aTg		dynein, axonemal, heavy chain 9							78.0	74.0	75.0					17																	11532900		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532900C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1518+1C>T	17.37:g.11532900C>T			Somatic				DNAH9_ENST00000454412.2_Splice_Site_p.T506M	p.T506M	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1585	+		Breast(5;0.0122)|all_epithelial(5;0.131)				Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.1517C>T	CCDS11160.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	11.01	1.513397	0.27123	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56275	0.47;0.47	5.61	-7.92	0.01160	Dynein heavy chain, domain-1 (1);	1.435080	0.03713	N	0.250561	T	0.27559	0.0677	N	0.21373	0.66	0.38781	D	0.954769	B	0.12630	0.006	B	0.17098	0.017	T	0.03852	-1.0998	10	0.30854	T	0.27	.	10.7333	0.46109	0.0:0.5198:0.1855:0.2947	.	506	Q9NYC9	DYH9_HUMAN	M	506	ENSP00000262442:T506M;ENSP00000414874:T506M	ENSP00000262442:T506M	T	+	2	0	DNAH9	11473625	0.000000	0.05858	0.049000	0.19019	0.939000	0.58152	-2.036000	0.01421	-1.485000	0.01854	-0.302000	0.09304	ACG		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	4	43	4	43	---	---	---	---
ALDOC	230	broad.mit.edu	37	17	26902441	26902441	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:26902441A>G	ENST00000226253.4	-	2	585	c.110T>C	c.(109-111)gTa>gCa	p.V37A	ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	37					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCACTTACCTACAGACTCATC	0.567											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(109-111)gTa>gCa		aldolase C, fructose-bisphosphate							105.0	92.0	97.0					17																	26902441		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902441A>G	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.110T>C	17.37:g.26902441A>G	ENSP00000226253:p.Val37Ala		Somatic	OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	p.V37A	NM_005165.2	NP_005156.1	WXS	Illumina GAIIx	Phase_I	P09972	ALDOC_HUMAN			2	585	-	Lung NSC(42;0.00431)		37					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.110T>C	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031185	0.35797	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	6.07	6.07	0.98685	Aldolase-type TIM barrel (1);	0.115046	0.64402	D	0.000013	T	0.79458	0.4449	L	0.28649	0.875	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.74746	-0.3561	10	0.62326	D	0.03	.	15.6114	0.76721	1.0:0.0:0.0:0.0	.	37;37	A8MVZ9;P09972	.;ALDOC_HUMAN	A	37	ENSP00000378729:V37A;ENSP00000226253:V37A;ENSP00000378731:V37A;ENSP00000398976:V37A	ENSP00000226253:V37A	V	-	2	0	ALDOC	23926568	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.595000	0.61048	2.326000	0.78906	0.533000	0.62120	GTA		0.567	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			8	41	8	41	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78061450	78061450	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:78061450C>G	ENST00000397545.4	+	15	2521	c.2494C>G	c.(2494-2496)Cac>Gac	p.H832D	CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	832					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATCGAGCACCACATGAAGGA	0.542																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(2494-2496)Cac>Gac		coiled-coil domain containing 40							73.0	84.0	80.0					17																	78061450		2087	4221	6308	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78061450C>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2494C>G	17.37:g.78061450C>G	ENSP00000380679:p.His832Asp		Somatic				CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	p.H832D	NM_017950.3	NP_060420.2	WXS	Illumina GAIIx	Phase_I	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		15	2521	+	all_neural(118;0.167)		832					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2494C>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524461	0.44969	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.88	4.56	4.56	0.56223	E3 ubiquitin ligase, BRE1 (1);	.	.	.	.	T	0.62672	0.2447	M	0.75447	2.3	0.31558	N	0.657908	D;D	0.54601	0.967;0.96	P;P	0.55508	0.777;0.574	T	0.66424	-0.5927	9	0.25751	T	0.34	-41.2234	17.3173	0.87228	0.0:1.0:0.0:0.0	.	832;615	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	D	832	ENSP00000364011:H832D;ENSP00000380679:H832D	ENSP00000364011:H832D	H	+	1	0	CCDC40	75676045	0.999000	0.42202	0.860000	0.33809	0.335000	0.28730	4.585000	0.60977	2.086000	0.62901	0.557000	0.71058	CAC		0.542	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	19	6	19	---	---	---	---
CCBE1	147372	broad.mit.edu	37	18	57133976	57133976	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr18:57133976T>C	ENST00000439986.4	-	5	585	c.548A>G	c.(547-549)gAc>gGc	p.D183G	RP11-27G24.3_ENST00000589242.1_RNA|CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	183					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTACCAGTGTCATTGGGATA	0.398																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(547-549)gAc>gGc		collagen and calcium binding EGF domains 1							126.0	112.0	117.0					18																	57133976		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57133976T>C	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.548A>G	18.37:g.57133976T>C	ENSP00000404464:p.Asp183Gly		Somatic				CCBE1_ENST00000398179.2_5'UTR	p.D183G	NM_133459.3	NP_597716.1	WXS	Illumina GAIIx	Phase_I	Q6UXH8	CCBE1_HUMAN			5	585	-		Colorectal(73;0.175)	183					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.548A>G	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	T	5.818	0.335126	0.11013	.	.	ENSG00000183287	ENST00000439986	T	0.72167	-0.63	4.15	2.99	0.34606	.	0.287376	0.32578	N	0.005907	T	0.61223	0.2330	L	0.51422	1.61	0.80722	D	1	B	0.18013	0.025	B	0.19391	0.025	T	0.57682	-0.7769	10	0.44086	T	0.13	-26.6286	7.8979	0.29717	0.0:0.1005:0.0:0.8995	.	183	Q6UXH8	CCBE1_HUMAN	G	183	ENSP00000404464:D183G	ENSP00000404464:D183G	D	-	2	0	CCBE1	55284956	.	.	0.973000	0.42090	0.206000	0.24218	.	.	0.943000	0.37553	0.533000	0.62120	GAC		0.398	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		30	114	30	114	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45377223	45377223	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:45377223C>T	ENST00000252483.5	+	4	826	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	276	Ig-like C2-type 2.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTACCTCGGCCGTACTGATGC	0.602																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(826-828)Cgt>Tgt		poliovirus receptor-related 2 (herpesvirus entry mediator B)							124.0	110.0	115.0					19																	45377223		2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45377223C>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.826C>T	19.37:g.45377223C>T	ENSP00000252483:p.Arg276Cys		Somatic				PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	p.R276C	NM_001042724.1	NP_001036189.1	WXS	Illumina GAIIx	Phase_I	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	4	826	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	276			Ig-like C2-type 2.		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.826C>T	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892454	0.72524	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	D;T	0.85013	-1.93;-0.31	4.78	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	D	0.92146	0.7510	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.983	D	0.93138	0.6539	10	0.87932	D	0	.	15.3246	0.74150	0.0:1.0:0.0:0.0	.	276;276	Q92692;Q92692-2	PVRL2_HUMAN;.	C	276	ENSP00000252483:R276C;ENSP00000252485:R276C	ENSP00000252483:R276C	R	+	1	0	PVRL2	50069063	0.998000	0.40836	0.978000	0.43139	0.656000	0.38851	5.129000	0.64739	2.466000	0.83321	0.462000	0.41574	CGT		0.602	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		30	51	30	51	---	---	---	---
SON	6651	broad.mit.edu	37	21	34924043	34924043	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr21:34924043T>G	ENST00000356577.4	+	3	2981	c.2506T>G	c.(2506-2508)Tta>Gta	p.L836V	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.L836V|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000300278.4_Missense_Mutation_p.L836V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	836	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCCCAGATGTTAGCAACCAG	0.507																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2506-2508)Tta>Gta		SON DNA binding protein							170.0	167.0	168.0					21																	34924043		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924043T>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2506T>G	21.37:g.34924043T>G	ENSP00000348984:p.Leu836Val		Somatic				SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000290239.6_Missense_Mutation_p.L836V	p.L836V	NM_138927.1	NP_620305	WXS	Illumina GAIIx	Phase_I	P18583	SON_HUMAN			3	2981	+			836			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2506T>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694513	0.30052	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.62	3.26	0.37387	.	0.000000	0.41938	D	0.000792	D	0.84352	0.5453	M	0.63843	1.955	0.28013	N	0.934833	D;D;B	0.71674	0.982;0.998;0.181	D;D;P	0.77557	0.952;0.99;0.517	T	0.74763	-0.3555	10	0.40728	T	0.16	.	4.852	0.13542	0.0:0.1647:0.1583:0.6771	.	836;836;836	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	836	ENSP00000348984:L836V;ENSP00000290239:L836V;ENSP00000300278:L836V;ENSP00000371095:L836V	ENSP00000290239:L836V	L	+	1	2	SON	33845913	0.995000	0.38212	0.992000	0.48379	0.889000	0.51656	0.573000	0.23699	0.428000	0.26173	-0.269000	0.10298	TTA		0.507	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		89	169	89	169	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39932270	39932279	+	Frame_Shift_Del	DEL	GATGTAACTT	GATGTAACTT	-			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:39932270_39932279delGATGTAACTT	ENST00000378444.4	-	4	2548_2557	c.2320_2329delAAGTTACATC	c.(2320-2331)aagttacatccafs	p.KLHP774fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.KLHP774fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	774					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGACATCTGGATGTAACTTGGTGCTGCTA	0.524			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2320-2331)aagttacatccafs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932270_39932279delGATGTAACTT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2320_2329delAAGTTACATC	X.37:g.39932270_39932279delGATGTAACTT	ENSP00000367705:p.Lys774fs		Somatic				BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs	p.KLHP774fs	NM_001123383.1	NP_001116855.1	WXS	Illumina GAIIx	Phase_I	Q6W2J9	BCOR_HUMAN			4	2682_2691	-			774					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.2320_2329delAAGTTACATC	CCDS48093.1																																																																																				0.524	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		71	58	71	58	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104984612	104984612	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:104984612C>A	ENST00000372582.1	+	8	1732	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	326	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAAGCTGACCTGGCGAATTA	0.398																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(976-978)Ctg>Atg		interleukin 1 receptor accessory protein-like 2							76.0	69.0	71.0					X																	104984612		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984612C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.976C>A	X.37:g.104984612C>A	ENSP00000361663:p.Leu326Met		Somatic				IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	p.L326M	NM_017416.1	NP_059112.1	WXS	Illumina GAIIx	Phase_I	Q9NP60	IRPL2_HUMAN			8	1732	+			326			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.976C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581365	0.65992	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03358	3.96;3.96	5.88	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000063	T	0.04770	0.0129	L	0.41356	1.27	0.80722	D	1	D	0.53745	0.962	P	0.45681	0.49	T	0.51671	-0.8676	10	0.39692	T	0.17	.	8.9813	0.35966	0.0:0.7903:0.0:0.2097	.	326	Q9NP60	IRPL2_HUMAN	M	326	ENSP00000361663:L326M;ENSP00000344976:L326M	ENSP00000344976:L326M	L	+	1	2	IL1RAPL2	104871268	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.821000	0.27338	0.957000	0.37930	0.600000	0.82982	CTG		0.398	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		48	19	48	19	---	---	---	---
