#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
RP1	6101	broad.mit.edu	37	8	55538977	55538977	+	Silent	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:55538977G>A	ENST00000220676.1	+	4	2683	c.2535G>A	c.(2533-2535)ggG>ggA	p.G845G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	845					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)			TGGCATCTGGGTATTTGAGAG	0.338																																					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.(2533-2535)ggG>ggA		retinitis pigmentosa 1 (autosomal dominant)							43.0	46.0	45.0					8																	55538977		2203	4298	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.chr8:55538977G>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.2535G>A	8.37:g.55538977G>A							p.G845G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2683	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	845						Silent	SNP	ENST00000220676.1	37	c.2535G>A	CCDS6160.1																																																																																				0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		23	109	0	0	0	1	0	23	109				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	55	0	0	0	1	0	4	55				
BPIFB4	149954	broad.mit.edu	37	20	31682956	31682956	+	Silent	SNP	C	C	A	rs200712639		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:31682956C>A	ENST00000375483.3	+	10	1395	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	465						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCCTGATCCCCAAGGTATGTA	0.532																																						ENST00000375483.3																			0											c.(1393-1395)ccC>ccA		BPI fold containing family B, member 4							205.0	193.0	197.0					20																	31682956		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31682956C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1395C>A	20.37:g.31682956C>A							p.P465P	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			10	1395	+			465					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1395C>A	CCDS13213.2																																																																																				0.532	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		6	74	1	0	5.9392e-07	1	6.17677e-07	6	74				
AGER	177	broad.mit.edu	37	6	32150159	32150159	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:32150159G>A	ENST00000375076.4	-	8	930	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	AGER_ENST00000438221.2_Missense_Mutation_p.P293S|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_Missense_Mutation_p.P277S|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Missense_Mutation_p.P176S|AGER_ENST00000375067.3_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.P308S|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	277	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGGGCAAGGGCACACCCTGG	0.587																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(829-831)Ccc>Tcc		advanced glycosylation end product-specific receptor							51.0	57.0	55.0					6																	32150159		1508	2708	4216	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150159G>A	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.829C>T	6.37:g.32150159G>A	ENSP00000364217:p.Pro277Ser					AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375067.3_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.P277S|AGER_ENST00000438221.2_Missense_Mutation_p.P293S|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.P176S|AGER_ENST00000375070.3_Missense_Mutation_p.P308S	p.P277S	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			8	930	-			277			Ig-like C2-type 2.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.829C>T	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	G	6.033	0.374427	0.11409	.	.	ENSG00000204305	ENST00000375055;ENST00000375076;ENST00000375070;ENST00000438221;ENST00000375069;ENST00000375059	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.7	3.87	0.44632	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.678056	0.14240	N	0.332166	T	0.04952	0.0133	L	0.46819	1.47	0.20563	N	0.999883	B;B;B;B;B;B;B	0.33448	0.019;0.412;0.063;0.01;0.044;0.044;0.044	B;B;B;B;B;B;B	0.30316	0.05;0.114;0.023;0.018;0.026;0.057;0.04	T	0.26395	-1.0104	10	0.59425	D	0.04	-1.0193	9.7395	0.40409	0.0783:0.1415:0.7802:0.0	.	277;176;277;293;263;293;277	B5A980;A8MS87;Q15109-3;Q3L1R7;Q3L1R5;Q3L1R8;Q15109	.;.;.;.;.;.;RAGE_HUMAN	S	277;277;308;293;176;6	ENSP00000364195:P277S;ENSP00000364217:P277S;ENSP00000364211:P308S;ENSP00000387887:P293S;ENSP00000364210:P176S	ENSP00000364195:P277S	P	-	1	0	AGER	32258137	0.175000	0.23083	0.091000	0.20842	0.074000	0.17049	0.953000	0.29162	0.719000	0.32188	0.467000	0.42956	CCC		0.587	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		15	28	0	0	0	1	0	15	28				
TUBA4A	7277	broad.mit.edu	37	2	220115819	220115819	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:220115819G>C	ENST00000248437.4	-	4	775	c.602C>G	c.(601-603)gCc>gGc	p.A201G	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.A186G	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	201					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CACCATGAAGGCACAGTCTGA	0.552																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(556-558)gCc>gGc		tubulin, alpha 4a							113.0	111.0	112.0					2																	220115819		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115819G>C	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.602C>G	2.37:g.220115819G>C	ENSP00000248437:p.Ala201Gly					TUBA4A_ENST00000248437.4_Missense_Mutation_p.A201G|TUBA4A_ENST00000498660.1_5'UTR	p.A186G	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1112	-		Renal(207;0.0474)	201					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.557C>G	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436052	0.43224	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	T;T;T	0.70282	-0.47;-0.47;-0.47	5.44	5.44	0.79542	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.93898	3.47	0.80722	D	1	B	0.09022	0.002	B	0.23275	0.045	T	0.80303	-0.1439	10	0.72032	D	0.01	.	19.4628	0.94924	0.0:0.0:1.0:0.0	.	201	P68366	TBA4A_HUMAN	G	201;186;48	ENSP00000248437:A201G;ENSP00000375938:A186G;ENSP00000396212:A48G	ENSP00000248437:A201G	A	-	2	0	TUBA4A	219824063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.510000	0.98004	2.837000	0.97791	0.655000	0.94253	GCC		0.552	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		19	100	0	0	0	1	0	19	100				
NCBP1	4686	broad.mit.edu	37	9	100431229	100431229	+	Silent	SNP	A	A	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr9:100431229A>G	ENST00000375147.3	+	21	2374	c.2118A>G	c.(2116-2118)caA>caG	p.Q706Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	706					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AGAGTGAACAAAAGAATCTTT	0.353																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(2116-2118)caA>caG		nuclear cap binding protein subunit 1, 80kDa							114.0	117.0	116.0					9																	100431229		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100431229A>G	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2118A>G	9.37:g.100431229A>G							p.Q706Q	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			21	2374	+		Acute lymphoblastic leukemia(62;0.158)	706					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2118A>G	CCDS6728.1																																																																																				0.353	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		28	47	0	0	0	1	0	28	47				
SLC6A15	55117	broad.mit.edu	37	12	85255473	85255473	+	Missense_Mutation	SNP	G	G	A	rs368561170		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:85255473G>A	ENST00000266682.5	-	12	2672	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.R604W	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	711					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTCCATACCGTCCATTGGGA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.001					ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2131-2133)Cgg>Tgg		solute carrier family 6 (neutral amino acid transporter), member 15							129.0	123.0	125.0					12																	85255473		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255473G>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2131C>T	12.37:g.85255473G>A	ENSP00000266682:p.Arg711Trp					SLC6A15_ENST00000552192.1_Missense_Mutation_p.R604W|SLC6A15_ENST00000309283.7_3'UTR	p.R711W	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2672	-			711					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2131C>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936088	0.73442	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.76060	-0.8;-0.99	5.6	5.6	0.85130	.	0.394161	0.28796	N	0.014112	T	0.81341	0.4802	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	P	0.58266	0.836	T	0.82711	-0.0322	10	0.87932	D	0	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	711	Q9H2J7	S6A15_HUMAN	W	711;604;189	ENSP00000266682:R711W;ENSP00000450145:R604W	ENSP00000266682:R711W	R	-	1	2	SLC6A15	83779604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.905000	0.69893	2.616000	0.88540	0.655000	0.94253	CGG		0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		41	77	0	0	0	1	0	41	77				
CSPG4	1464	broad.mit.edu	37	15	75968987	75968987	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr15:75968987C>T	ENST00000308508.5	-	10	5965	c.5873G>A	c.(5872-5874)cGc>cAc	p.R1958H	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1958	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGTGAGGAGCGCCCCAAAGC	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5872-5874)cGc>cAc		chondroitin sulfate proteoglycan 4							38.0	47.0	44.0					15																	75968987		2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968987C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5873G>A	15.37:g.75968987C>T	ENSP00000312506:p.Arg1958His					CTD-2026K11.1_ENST00000569467.1_RNA	p.R1958H	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	5965	-			1958			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5873G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536708	0.27475	.	.	ENSG00000173546	ENST00000308508	T	0.17213	2.29	5.15	4.23	0.50019	.	0.307372	0.23708	N	0.045351	T	0.15696	0.0378	L	0.59436	1.845	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.20472	-1.0274	10	0.22706	T	0.39	.	7.8883	0.29663	0.159:0.7596:0.0:0.0814	.	1958	Q6UVK1	CSPG4_HUMAN	H	1958	ENSP00000312506:R1958H	ENSP00000312506:R1958H	R	-	2	0	CSPG4	73756042	0.000000	0.05858	0.011000	0.14972	0.971000	0.66376	0.341000	0.19909	1.169000	0.42739	0.561000	0.74099	CGC		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	70	0	0	0	1	0	4	70				
VWF	7450	broad.mit.edu	37	12	6061684	6061684	+	Splice_Site	SNP	C	C	T	rs149834874	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:6061684C>T	ENST00000261405.5	-	49	8242	c.7988G>A	c.(7987-7989)cGt>cAt	p.R2663H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2663					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGTCTCATCACGCTGGAAGGA	0.498																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM070325	VWF	M	rs149834874	c.e49-1		von Willebrand factor	Antihemophilic Factor(DB00025)						82.0	71.0	75.0					12																	6061684		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6061684C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7987-1G>A	12.37:g.6061684C>T							p.R2663_splice	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			49	8242	-			2663					Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.7986_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819694	0.32145	.	.	ENSG00000110799	ENST00000261405	T	0.36157	1.27	5.36	2.2	0.27929	.	0.250565	0.22061	N	0.065177	T	0.33000	0.0848	M	0.75447	2.3	0.80722	D	1	P	0.42973	0.796	B	0.36666	0.23	T	0.15037	-1.0451	10	0.44086	T	0.13	.	8.2295	0.31590	0.0:0.4275:0.4791:0.0934	.	2663	P04275	VWF_HUMAN	H	2663	ENSP00000261405:R2663H	ENSP00000261405:R2663H	R	-	2	0	VWF	5931945	0.999000	0.42202	0.987000	0.45799	0.079000	0.17450	1.336000	0.33850	0.737000	0.32582	0.655000	0.94253	CGT		0.498	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	9	10	0	0	0	1	0	9	10				
AHNAK	79026	broad.mit.edu	37	11	62296914	62296914	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:62296914C>T	ENST00000378024.4	-	5	5249	c.4975G>A	c.(4975-4977)Gac>Aac	p.D1659N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1659					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCGGGC	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4975-4977)Gac>Aac		AHNAK nucleoprotein							255.0	265.0	261.0					11																	62296914		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296914C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4975G>A	11.37:g.62296914C>T	ENSP00000367263:p.Asp1659Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D1659N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5249	-		Melanoma(852;0.155)	1659					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4975G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742364	0.30865	.	.	ENSG00000124942	ENST00000378024	T	0.03330	3.97	3.97	3.04	0.35103	.	1.315100	0.05477	U	0.554043	T	0.09291	0.0229	M	0.72353	2.195	0.32384	N	0.554134	P	0.36183	0.542	B	0.40375	0.327	T	0.24548	-1.0157	10	0.32370	T	0.25	.	11.1644	0.48535	0.0:0.906:0.0:0.094	.	1659	Q09666	AHNK_HUMAN	N	1659	ENSP00000367263:D1659N	ENSP00000367263:D1659N	D	-	1	0	AHNAK	62053490	0.777000	0.28628	0.170000	0.22879	0.023000	0.10783	2.274000	0.43390	0.766000	0.33244	0.195000	0.17529	GAC		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		131	172	0	0	0	1	0	131	172				
IQCF2	389123	broad.mit.edu	37	3	51897229	51897229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:51897229G>A	ENST00000333127.3	+	3	367	c.338G>A	c.(337-339)tGg>tAg	p.W113*	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	113	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCCGTATGTGGCGTGTCCGC	0.597																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(337-339)tGg>tAg		IQ motif containing F2							134.0	128.0	130.0					3																	51897229		2203	4300	6503	SO:0001587	stop_gained	389123							g.chr3:51897229G>A	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.338G>A	3.37:g.51897229G>A	ENSP00000329904:p.Trp113*					IQCF2_ENST00000429548.1_3'UTR	p.W113*	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	367	+			113			IQ 2.			Nonsense_Mutation	SNP	ENST00000333127.3	37	c.338G>A	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777345	0.70107	.	.	ENSG00000184345	ENST00000333127	.	.	.	5.1	5.1	0.69264	.	0.000000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2738	14.1993	0.65690	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000329904:W113X	W	+	2	0	IQCF2	51872269	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.517000	0.60503	2.802000	0.96397	0.561000	0.74099	TGG		0.597	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		22	33	0	0	0	1	0	22	33				
TOR1AIP1	26092	broad.mit.edu	37	1	179873145	179873145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:179873145C>T	ENST00000606911.2	+	6	975	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q263*|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Nonsense_Mutation_p.Q263*|TOR1AIP1_ENST00000435319.4_Nonsense_Mutation_p.Q141*			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	262					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ATCATTTTGGCAGTCATCACA	0.303																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(784-786)Cag>Tag		torsin A interacting protein 1							117.0	110.0	112.0					1																	179873145		2203	4299	6502	SO:0001587	stop_gained	26092					integral to membrane|nuclear inner membrane		g.chr1:179873145C>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.784C>T	1.37:g.179873145C>T	ENSP00000476687:p.Gln262*					TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q263*	p.Q262*	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			6	975	+			262					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Nonsense_Mutation	SNP	ENST00000606911.2	37	c.784C>T	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.970603|6.970603	0.97971|0.97971	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000527391|ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	.|.	.|.	.|.	4.21|4.21	1.1|1.1	0.20463|0.20463	.|.	.|1.087270	.|0.07101	.|N	.|0.840484	T|.	0.21801|.	0.0525|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31194|.	-0.9952|.	3|.	.|.	.|.	.|.	-1.1156|-1.1156	1.8567|1.8567	0.03180|0.03180	0.2569:0.4457:0.1828:0.1146|0.2569:0.4457:0.1828:0.1146	.|.	.|.	.|.	.|.	V|X	138|263;262;263;262	.|.	.|.	A|Q	+|+	2|1	0|0	TOR1AIP1|TOR1AIP1	178139768|178139768	0.993000|0.993000	0.37304|0.37304	0.985000|0.985000	0.45067|0.45067	0.971000|0.971000	0.66376|0.66376	0.643000|0.643000	0.24750|0.24750	0.439000|0.439000	0.26476|0.26476	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.303	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		3	37	0	0	0	1	0	3	37				
DPPA3P2	400206	broad.mit.edu	37	14	36840760	36840760	+	RNA	SNP	G	G	A	rs567336918	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:36840760G>A	ENST00000557188.1	+	0	391									developmental pluripotency associated 3 pseudogene 2																		GACTATCAACGCTAGTAGCGA	0.488													g|||	32	0.00638978	0.0	0.0	5008	,	,		18977	0.0		0.0	False		,,,				2504	0.0327					ENST00000557188.1																			0																																																			0							g.chr14:36840760G>A			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840760G>A														0	391	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.488	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			9	12	0	0	0	1	0	9	12				
PCDHGA2	56113	broad.mit.edu	37	5	140720504	140720504	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:140720504G>A	ENST00000394576.2	+	1	1966	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A656T(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTCTCCGCCACTGTCAC	0.701																																						ENST00000394576.2																			1	Substitution - Missense(1)	p.A656T(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1966-1968)Gcc>Acc									34.0	41.0	39.0					5																	140720504		2200	4295	6495	SO:0001583	missense	0							g.chr5:140720504G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1966G>A	5.37:g.140720504G>A	ENSP00000378077:p.Ala656Thr					PCDHGA1_ENST00000517417.1_Intron	p.A656T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1966	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1966G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630332	0.28978	.	.	ENSG00000081853	ENST00000394576	T	0.51071	0.72	5.14	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000956	T	0.42291	0.1196	L	0.39326	1.205	0.28900	N	0.893339	P;P	0.45594	0.709;0.862	B;B	0.41466	0.261;0.358	T	0.44205	-0.9343	10	0.56958	D	0.05	.	15.2028	0.73153	0.0:0.0:0.8582:0.1418	.	656;656	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	656	ENSP00000378077:A656T	ENSP00000378077:A656T	A	+	1	0	PCDHGA2	140700688	0.417000	0.25432	0.783000	0.31826	0.012000	0.07955	1.220000	0.32491	1.310000	0.45006	0.485000	0.47835	GCC		0.701	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		33	48	0	0	0	1	0	33	48				
ST18	9705	broad.mit.edu	37	8	53044633	53044633	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:53044633G>T	ENST00000276480.7	-	22	3234	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	851					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATTGAGAGGATTCTCCTTC	0.498																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2551-2553)Cct>Act		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							137.0	120.0	126.0					8																	53044633		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53044633G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2551C>A	8.37:g.53044633G>T	ENSP00000276480:p.Pro851Thr						p.P851T	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			22	3234	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	851					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2551C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912056	0.33721	.	.	ENSG00000147488	ENST00000276480	T	0.43294	0.95	5.37	5.37	0.77165	.	0.169854	0.53938	D	0.000048	T	0.30541	0.0768	L	0.28192	0.835	0.44477	D	0.99741	P	0.37688	0.605	B	0.36134	0.218	T	0.05533	-1.0879	10	0.25106	T	0.35	-5.8098	14.3386	0.66608	0.0:0.0:0.8518:0.1482	.	851	O60284	ST18_HUMAN	T	851	ENSP00000276480:P851T	ENSP00000276480:P851T	P	-	1	0	ST18	53207186	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	3.595000	0.54016	2.658000	0.90341	0.591000	0.81541	CCT		0.498	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			10	114	1	0	0.000673444	1	0.000686649	10	114				
COL22A1	169044	broad.mit.edu	37	8	139629181	139629181	+	Silent	SNP	G	G	A	rs373967661		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:139629181G>A	ENST00000303045.6	-	54	4292	c.3846C>T	c.(3844-3846)ggC>ggT	p.G1282G	COL22A1_ENST00000435777.1_Silent_p.G1262G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1282G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCAGAATCGCCTGTGTGTC	0.587										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19342	0.001		0.0	False		,,,				2504	0.0					ENST00000303045.6																			1	Substitution - coding silent(1)	p.G1282G(1)	urinary_tract(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3844-3846)ggC>ggT		collagen, type XXII, alpha 1							80.0	79.0	79.0					8																	139629181		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629181G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3846C>T	8.37:g.139629181G>A		HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1262G	p.G1282G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4292	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1282			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3846C>T	CCDS6376.1																																																																																				0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	148	0	0	0	1	0	5	148				
PPP1R12C	54776	broad.mit.edu	37	19	55603825	55603825	+	Silent	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr19:55603825G>A	ENST00000263433.3	-	18	2055	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	PPP1R12C_ENST00000376393.2_Silent_p.D617D|PPP1R12C_ENST00000435544.2_Silent_p.D605D	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TAAAGCCTCCGTCTGGCTCTT	0.706																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(2038-2040)gaC>gaT		protein phosphatase 1, regulatory subunit 12C							22.0	25.0	24.0					19																	55603825		2194	4298	6492	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55603825G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2040C>T	19.37:g.55603825G>A						PPP1R12C_ENST00000376393.2_Silent_p.D617D|PPP1R12C_ENST00000435544.2_Silent_p.D605D	p.D680D	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	18	2055	-			680						Silent	SNP	ENST00000263433.3	37	c.2040C>T	CCDS12916.1																																																																																				0.706	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		7	5	0	0	0	1	0	7	5				
CSMD1	64478	broad.mit.edu	37	8	2857534	2857534	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:2857534C>T	ENST00000520002.1	-	54	8707	c.8152G>A	c.(8152-8154)Gtg>Atg	p.V2718M	CSMD1_ENST00000542608.1_Missense_Mutation_p.V2659M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2660M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2717M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2718M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2660M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2718	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATATCCTCACGGAAGTTCCC	0.507																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8152-8154)Gtg>Atg		CUB and Sushi multiple domains 1							164.0	161.0	162.0					8																	2857534		1960	4150	6110	SO:0001583	missense	64478					integral to membrane		g.chr8:2857534C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8152G>A	8.37:g.2857534C>T	ENSP00000430733:p.Val2718Met					CSMD1_ENST00000602723.1_Missense_Mutation_p.V2660M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2660M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2718M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2659M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2717M	p.V2718M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8707	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2718			Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8152G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.957086|3.957086	0.73902|0.73902	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.80737|0.80737	0.4680|0.4680	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.77164|0.77164	-0.2688|-0.2688	5|10	.|0.41790	.|T	.|0.15	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2718;2718;2659	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|M	2134|2660;2718;2579;2717;2659	.|ENSP00000383047:V2660M;ENSP00000430733:V2718M;ENSP00000441462:V2717M;ENSP00000446243:V2659M	.|ENSP00000320445:V2579M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	2844941|2844941	1.000000|1.000000	0.71417|0.71417	0.116000|0.116000	0.21606|0.21606	0.122000|0.122000	0.20287|0.20287	7.612000|7.612000	0.82975|0.82975	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		43	27	0	0	0	1	0	43	27				
ALPPL2	251	broad.mit.edu	37	2	233271622	233271622	+	Silent	SNP	G	G	T	rs540080227		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:233271622G>T	ENST00000295453.3	+	1	70	c.18G>T	c.(16-18)gtG>gtT	p.V6V		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	6					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGCCCTGGGTGCTGCTCCTGC	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(16-18)gtG>gtT		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						75.0	79.0	78.0					2																	233271622		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271622G>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.18G>T	2.37:g.233271622G>T							p.V6V	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	70	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	6					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.18G>T	CCDS2491.1																																																																																				0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		32	39	1	0	9.04072e-19	1	9.59423e-19	32	39				
GPR97	222487	broad.mit.edu	37	16	57718380	57718380	+	Missense_Mutation	SNP	G	G	A	rs554076542		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:57718380G>A	ENST00000333493.4	+	10	1402	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R294H|GPR97_ENST00000327655.6_Missense_Mutation_p.R204H	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	414					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGGAGAACCGCACCTCTCTG	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		18404	0.001		0.0	False		,,,				2504	0.0					ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1240-1242)cGc>cAc		G protein-coupled receptor 97							49.0	44.0	45.0					16																	57718380		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57718380G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1241G>A	16.37:g.57718380G>A	ENSP00000332900:p.Arg414His					GPR97_ENST00000327655.6_Missense_Mutation_p.R204H|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R294H	p.R414H	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			10	1402	+			414					Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.1241G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685345	0.29872	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.33654	1.58;1.4;1.59	4.76	-3.84	0.04256	GPCR, family 2-like (1);	1.528330	0.03697	N	0.247935	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	B	0.29232	0.238	B	0.20955	0.032	T	0.08229	-1.0732	10	0.33940	T	0.23	.	0.5118	0.00597	0.2444:0.201:0.3246:0.2299	.	414	Q86Y34	GPR97_HUMAN	H	414;204;294	ENSP00000332900:R414H;ENSP00000331199:R204H;ENSP00000404803:R294H	ENSP00000331199:R204H	R	+	2	0	GPR97	56275881	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-1.128000	0.03247	-0.465000	0.06953	0.585000	0.79938	CGC		0.632	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		14	10	0	0	0	1	0	14	10				
MDN1	23195	broad.mit.edu	37	6	90482337	90482337	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:90482337C>T	ENST00000369393.3	-	14	2153	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	MDN1_ENST00000428876.1_Missense_Mutation_p.G680R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	680					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G680W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCCAGTCCCGGTCTCTCCC	0.498																																						ENST00000369393.3																			1	Substitution - Missense(1)	p.G680W(1)	lung(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2038-2040)Ggg>Agg		MDN1, midasin homolog (yeast)							132.0	133.0	133.0					6																	90482337		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482337C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2038G>A	6.37:g.90482337C>T	ENSP00000358400:p.Gly680Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.G680R	p.G680R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2153	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	680					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2038G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633419	0.47049	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	D;D;D	0.96885	-4.16;-4.16;-4.16	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99153	1.0859	10	0.66056	D	0.02	.	19.7199	0.96137	0.0:1.0:0.0:0.0	.	607;680	Q5T795;Q9NU22	.;MDN1_HUMAN	R	680;680;607	ENSP00000358400:G680R;ENSP00000413970:G680R;ENSP00000409664:G607R	ENSP00000358400:G680R	G	-	1	0	MDN1	90539058	1.000000	0.71417	0.245000	0.24217	0.116000	0.19942	7.484000	0.81180	2.665000	0.90641	0.650000	0.86243	GGG		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	61	0	0	0	1	0	3	61				
LGALS7B	653499	broad.mit.edu	37	19	39281377	39281377	+	Silent	SNP	C	C	G	rs183137923	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr19:39281377C>G	ENST00000314980.4	+	3	160	c.144C>G	c.(142-144)gcC>gcG	p.A48A		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	48	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										CCGATGCCGCCCTGCATTTCA	0.652																																						ENST00000314980.4																			0											c.(142-144)gcC>gcG		lectin, galactoside-binding, soluble, 7B							38.0	41.0	40.0					19																	39281377		2202	4294	6496	SO:0001819	synonymous_variant	653499				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding	g.chr19:39281377C>G		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.144C>G	19.37:g.39281377C>G							p.A48A	NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN			3	160	+			48			Galectin.		Q6IB87	Silent	SNP	ENST00000314980.4	37	c.144C>G	CCDS42565.1																																																																																				0.652	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1			3	50	0	0	0	1	0	3	50				
IL6ST	3572	broad.mit.edu	37	5	55264119	55264119	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:55264119G>C	ENST00000381298.2	-	5	788	c.476C>G	c.(475-477)aCt>aGt	p.T159S	IL6ST_ENST00000336909.5_Missense_Mutation_p.T159S|IL6ST_ENST00000522633.2_Missense_Mutation_p.T159S|IL6ST_ENST00000381294.3_Missense_Mutation_p.T159S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T159S|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T159S|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.T159S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	159	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATTTTAAAGTGAAGTTTGT	0.318			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(475-477)aCt>aGt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							110.0	108.0	109.0					5																	55264119		2202	4300	6502	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55264119G>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.476C>G	5.37:g.55264119G>C	ENSP00000370698:p.Thr159Ser					IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.T159S|IL6ST_ENST00000536319.1_Missense_Mutation_p.T159S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T159S|IL6ST_ENST00000502326.3_Missense_Mutation_p.T159S|IL6ST_ENST00000522633.2_Missense_Mutation_p.T159S|IL6ST_ENST00000336909.5_Missense_Mutation_p.T159S|IL6ST_ENST00000381293.2_Intron	p.T159S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			5	788	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	159			Fibronectin type-III 1.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.476C>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967255	0.53507	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.76	4.88	0.63580	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.447894	0.23908	N	0.043378	T	0.31389	0.0795	M	0.67700	2.07	0.80722	D	1	P;P;B	0.51351	0.477;0.944;0.338	B;P;B	0.48815	0.324;0.591;0.1	T	0.02751	-1.1115	10	0.72032	D	0.01	.	12.3006	0.54872	0.0705:0.1304:0.7992:0.0	.	159;159;159	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	S	159	ENSP00000370698:T159S;ENSP00000338799:T159S;ENSP00000370694:T159S;ENSP00000370687:T159S;ENSP00000444456:T159S;ENSP00000435399:T159S	ENSP00000338799:T159S	T	-	2	0	IL6ST	55299876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.405000	0.44548	2.880000	0.98712	0.650000	0.86243	ACT		0.318	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		10	11	0	0	0	1	0	10	11				
XKR3	150165	broad.mit.edu	37	22	17280821	17280821	+	Silent	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:17280821C>T	ENST00000331428.5	-	3	531	c.429G>A	c.(427-429)acG>acA	p.T143T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	143			T -> M (in dbSNP:rs5748648).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(427-429)acG>acA		XK, Kell blood group complex subunit-related family, member 3							228.0	205.0	212.0					22																	17280821		1896	4131	6027	SO:0001819	synonymous_variant	150165					integral to membrane|plasma membrane		g.chr22:17280821C>T	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.429G>A	22.37:g.17280821C>T							p.T143T	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			3	531	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	143		T -> M (in dbSNP:rs5748648).			B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	c.429G>A	CCDS42975.1																																																																																				0.403	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		22	39	0	0	0	1	0	22	39				
LRRC4C	57689	broad.mit.edu	37	11	40136649	40136649	+	Silent	SNP	C	C	T	rs370082164		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:40136649C>T	ENST00000278198.2	-	2	3157	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	LRRC4C_ENST00000530763.1_Silent_p.A398A|LRRC4C_ENST00000527150.1_Silent_p.A398A|LRRC4C_ENST00000528697.1_Silent_p.A398A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	398	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCACTTTGTACGCCCCATGTG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		23231	0.0		0.0	False		,,,				2504	0.001					ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1192-1194)gcG>gcA		leucine rich repeat containing 4C		C		1,4405	2.1+/-5.4	0,1,2202	196.0	170.0	179.0		1194	-11.7	0.0	11		179	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		398/641	40136649	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136649C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1194G>A	11.37:g.40136649C>T						LRRC4C_ENST00000528697.1_Silent_p.A398A|LRRC4C_ENST00000527150.1_Silent_p.A398A|LRRC4C_ENST00000530763.1_Silent_p.A398A	p.A398A			Q9HCJ2	LRC4C_HUMAN			2	3157	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	398			Ig-like C2-type.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1194G>A	CCDS31464.1																																																																																				0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		64	101	0	0	0	1	0	64	101				
CSF1R	1436	broad.mit.edu	37	5	149441301	149441301	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:149441301T>G	ENST00000286301.3	-	12	2029	c.1738A>C	c.(1738-1740)Aac>Cac	p.N580H	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	580					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCAGGTTGTTCCGGGGGAAC	0.577																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1738-1740)Aac>Cac		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						138.0	133.0	135.0					5																	149441301		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149441301T>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1738A>C	5.37:g.149441301T>G	ENSP00000286301:p.Asn580His					CSF1R_ENST00000515239.1_5'UTR	p.N580H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		12	2029	-			580					B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1738A>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581859	0.65992	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	D	0.89875	-2.58	4.41	4.41	0.53225	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000051	D	0.93651	0.7972	M	0.78801	2.425	0.80722	D	1	P;D	0.89917	0.863;1.0	B;D	0.70016	0.416;0.967	D	0.94368	0.7593	10	0.72032	D	0.01	.	13.8112	0.63264	0.0:0.0:0.0:1.0	.	432;580	B4E2Y8;P07333	.;CSF1R_HUMAN	H	580;432	ENSP00000286301:N580H	ENSP00000286301:N580H	N	-	1	0	CSF1R	149421494	1.000000	0.71417	0.969000	0.41365	0.935000	0.57460	5.593000	0.67550	1.849000	0.53698	0.368000	0.22195	AAC		0.577	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		8	53	0	0	0	1	0	8	53				
ARHGAP5	394	broad.mit.edu	37	14	32586457	32586457	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:32586457T>G	ENST00000345122.3	+	3	4144	c.3829T>G	c.(3829-3831)Ttt>Gtt	p.F1277V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1277V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.F16V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1277	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CATACCACTATTTGTTGAGAA	0.368																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3829-3831)Ttt>Gtt		Rho GTPase activating protein 5							83.0	88.0	86.0					14																	32586457		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32586457T>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3829T>G	14.37:g.32586457T>G	ENSP00000371897:p.Phe1277Val					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.F16V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1277V	p.F1277V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	3	4144	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1277			Rho-GAP.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.3829T>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507473	0.85282	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.35249	1.045	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.995;0.997	T	0.05616	-1.0874	10	0.87932	D	0	.	15.7955	0.78407	0.0:0.0:0.0:1.0	.	1276;1277	Q13017-2;Q13017	.;RHG05_HUMAN	V	1276;1277;1277;1276;16;16	ENSP00000452222:F1276V;ENSP00000441692:F1277V;ENSP00000371897:F1277V;ENSP00000393307:F1276V;ENSP00000407395:F16V;ENSP00000451061:F16V	ENSP00000216743:F131V	F	+	1	0	ARHGAP5	31656208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.380000	0.79704	2.133000	0.65898	0.460000	0.39030	TTT		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		23	45	0	0	0	1	0	23	45				
GSDMD	79792	broad.mit.edu	37	8	144643207	144643207	+	Silent	SNP	G	G	A	rs145648319		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:144643207G>A	ENST00000526406.1	+	8	1498	c.615G>A	c.(613-615)acG>acA	p.T205T	GSDMD_ENST00000533063.1_Silent_p.T253T|GSDMD_ENST00000262580.4_Silent_p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	205					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAAGAAGACGGTCACCATCC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12196	0.0		0.001	False		,,,				2504	0.0					ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(613-615)acG>acA		gasdermin D		G	,	0,4406		0,0,2203	68.0	57.0	61.0		615,615	-5.9	0.0	8	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GSDMD	NM_001166237.1,NM_024736.6	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	205/485,205/485	144643207	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79792							g.chr8:144643207G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.615G>A	8.37:g.144643207G>A						GSDMD_ENST00000262580.4_Silent_p.T205T|GSDMD_ENST00000533063.1_Silent_p.T253T	p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			8	1498	+			205					D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.615G>A	CCDS34956.1																																																																																				0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		4	108	0	0	0	1	0	4	108				
ALKBH3	221120	broad.mit.edu	37	11	43918832	43918832	+	Intron	SNP	C	C	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:43918832C>G	ENST00000302708.4	+	8	870				ALKBH3_ENST00000378840.4_Missense_Mutation_p.S152W|ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GAGCGCCCGTCGCCACCCCAC	0.478								Direct reversal of damage																														ENST00000378840.4																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)	8						c.(454-456)tCg>tGg	Direct reversal of damage	alkB, alkylation repair homolog 3 (E. coli)	Vitamin C(DB00126)						123.0	129.0	127.0					11																	43918832		876	1991	2867	SO:0001627	intron_variant	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43918832C>G	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.460-4234C>G	11.37:g.43918832C>G						ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000302708.4_Intron	p.S152W			Q96Q83	ALKB3_HUMAN			7	860	+			0					A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.455C>G	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298593	0.05532	.	.	ENSG00000166199	ENST00000378840	.	.	.	0.566	-1.13	0.09775	.	.	.	.	.	T	0.34774	0.0909	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35076	-0.9803	4	0.59425	D	0.04	.	.	.	.	.	.	.	.	W	152	.	ENSP00000368117:S152W	S	+	2	0	ALKBH3	43875408	0.012000	0.17670	0.013000	0.15412	0.007000	0.05969	-0.862000	0.04263	-0.600000	0.05790	-1.076000	0.02234	TCG		0.478	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		24	52	0	0	0	1	0	24	52				
GRM4	2914	broad.mit.edu	37	6	34003558	34003558	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:34003558C>T	ENST00000538487.2	-	9	2772	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M	GRM4_ENST00000374181.4_Missense_Mutation_p.V777M|GRM4_ENST00000609222.1_Missense_Mutation_p.V644M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.V661M|GRM4_ENST00000455714.2_Missense_Mutation_p.V637M|GRM4_ENST00000535756.1_Missense_Mutation_p.V644M|GRM4_ENST00000544773.2_Missense_Mutation_p.V608M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	777					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCTCGGGCACGCCGCGTGTC	0.577																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2329-2331)Gtg>Atg		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						108.0	77.0	87.0					6																	34003558		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003558C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2329G>A	6.37:g.34003558C>T	ENSP00000440556:p.Val777Met					GRM4_ENST00000535756.1_Missense_Mutation_p.V644M|GRM4_ENST00000374177.3_Missense_Mutation_p.V661M|GRM4_ENST00000544773.1_Missense_Mutation_p.V608M|GRM4_ENST00000538487.1_Missense_Mutation_p.V777M|GRM4_ENST00000545715.1_Missense_Mutation_p.V469M|GRM4_ENST00000455714.2_Missense_Mutation_p.V637M	p.V777M	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2498	-			777					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2329G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017904	0.75275	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.47	4.47	0.54385	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.986;0.99;0.998;0.99;0.99	D	0.95467	0.8548	10	0.87932	D	0	.	17.3286	0.87257	0.0:1.0:0.0:0.0	.	730;608;637;777;644	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	M	777;661;469;644;608;777;637	ENSP00000363296:V777M;ENSP00000363292:V661M;ENSP00000445533:V469M;ENSP00000437925:V644M;ENSP00000437730:V608M;ENSP00000440556:V777M;ENSP00000398456:V637M	ENSP00000363292:V661M	V	-	1	0	GRM4	34111536	1.000000	0.71417	0.988000	0.46212	0.921000	0.55340	7.580000	0.82523	2.303000	0.77524	0.455000	0.32223	GTG		0.577	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			7	18	0	0	0	1	0	7	18				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	50	0	0	0	1	0	4	50				
SNRPA1	6627	broad.mit.edu	37	15	101821982	101821982	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr15:101821982T>G	ENST00000254193.6	-	9	787	c.715A>C	c.(715-717)Act>Cct	p.T239P		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	239					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATCATCAGTGGGCCCTAAA	0.433																																						ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(715-717)Act>Cct		small nuclear ribonucleoprotein polypeptide A'							102.0	99.0	100.0					15																	101821982		2203	4300	6503	SO:0001583	missense	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101821982T>G	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.715A>C	15.37:g.101821982T>G	ENSP00000254193:p.Thr239Pro						p.T239P	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	787	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		239					B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	37	c.715A>C	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531813	0.27387	.	.	ENSG00000131876	ENST00000254193	T	0.44881	0.91	4.85	-1.51	0.08664	.	0.810221	0.11669	N	0.541047	T	0.15305	0.0369	N	0.02011	-0.69	0.09310	N	1	B	0.20368	0.044	B	0.23574	0.047	T	0.27088	-1.0084	10	0.28530	T	0.3	.	6.6339	0.22872	0.245:0.5097:0.0:0.2452	.	239	P09661	RU2A_HUMAN	P	239	ENSP00000254193:T239P	ENSP00000254193:T239P	T	-	1	0	SNRPA1	99639505	0.001000	0.12720	0.642000	0.29436	0.994000	0.84299	-0.797000	0.04570	-0.304000	0.08843	0.528000	0.53228	ACT		0.433	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		10	27	0	0	0	1	0	10	27				
ACY1	95	broad.mit.edu	37	3	52022810	52022810	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:52022810C>T	ENST00000404366.2	+	14	1176	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000494103.1_Missense_Mutation_p.P272S|ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ACY1_ENST00000458031.2_Missense_Mutation_p.P434S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	344					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGAGATCATGCCTGCTGCCAC	0.557																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(1300-1302)Cct>Tct		aminoacylase 1	L-Aspartic Acid(DB00128)						159.0	172.0	168.0					3																	52022810		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52022810C>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1030C>T	3.37:g.52022810C>T	ENSP00000384296:p.Pro344Ser					ACY1_ENST00000494103.1_Missense_Mutation_p.P272S|ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S|ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000404366.2_Missense_Mutation_p.P344S	p.P434S			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	16	1531	+			344					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.1300C>T	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644575	0.47258	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	D;D;D;D;T;D	0.82433	-1.61;-1.61;-1.61;-1.61;0.78;-1.61	5.69	3.73	0.42828	.	0.052306	0.85682	N	0.000000	D	0.86973	0.6062	M	0.76170	2.325	0.80722	D	1	P;B	0.40534	0.72;0.345	P;B	0.50934	0.654;0.367	D	0.86241	0.1643	10	0.62326	D	0.03	-14.4207	11.9042	0.52701	0.0:0.847:0.0:0.153	.	434;344	B4DNW0;Q03154	.;ACY1_HUMAN	S	434;445;344;279;309;272;344	ENSP00000390557:P434S;ENSP00000420487:P445S;ENSP00000419262:P279S;ENSP00000417056:P309S;ENSP00000417618:P272S;ENSP00000384296:P344S	ENSP00000384296:P344S	P	+	1	0	ACY1;RP11-155D18.11	51997850	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	3.355000	0.52262	0.628000	0.30357	0.655000	0.94253	CCT		0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		85	141	0	0	0	1	0	85	141				
SH3RF2	153769	broad.mit.edu	37	5	145442111	145442111	+	Silent	SNP	G	G	A	rs201984076	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:145442111G>A	ENST00000511217.1	+	9	2089	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.A679A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	679					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGCAGCGTCCTTGGGCC	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		18271	0.001		0.0	False		,,,				2504	0.002					ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(2035-2037)gcG>gcA		SH3 domain containing ring finger 2							84.0	79.0	81.0					5																	145442111		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145442111G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.2037G>A	5.37:g.145442111G>A						SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.A679A	p.A679A			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	2089	+			679					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.2037G>A	CCDS4280.1																																																																																				0.597	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		22	33	0	0	0	1	0	22	33				
SNTG1	54212	broad.mit.edu	37	8	51503463	51503463	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:51503463C>A	ENST00000522124.1	+	13	1496	c.835C>A	c.(835-837)Cct>Act	p.P279T	SNTG1_ENST00000276467.5_Missense_Mutation_p.P279T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P279T|SNTG1_ENST00000518864.1_Missense_Mutation_p.P279T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	279					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGAAACTTTCCTGTAAACCA	0.284																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(835-837)Cct>Act		syntrophin, gamma 1							22.0	23.0	23.0					8																	51503463		2190	4267	6457	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51503463C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.835C>A	8.37:g.51503463C>A	ENSP00000429842:p.Pro279Thr					SNTG1_ENST00000518864.1_Missense_Mutation_p.P279T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P279T|SNTG1_ENST00000276467.5_Missense_Mutation_p.P279T	p.P279T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			13	1496	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	279					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.835C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768123	0.31320	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.78	4.78	0.61160	.	0.163085	0.56097	D	0.000028	T	0.29158	0.0725	L	0.53249	1.67	0.51482	D	0.999927	P;B	0.36010	0.532;0.281	B;B	0.33620	0.167;0.083	T	0.07770	-1.0755	10	0.39692	T	0.17	.	13.3371	0.60524	0.0:1.0:0.0:0.0	.	279;279	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	T	279	ENSP00000429276:P279T;ENSP00000429842:P279T;ENSP00000431123:P279T;ENSP00000276467:P279T	ENSP00000276467:P279T	P	+	1	0	SNTG1	51666016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.556000	0.45862	2.205000	0.71048	0.650000	0.86243	CCT		0.284	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	72	1	0	0.014758	1	0.014758	4	72				
ABCA3	21	broad.mit.edu	37	16	2334347	2334347	+	Silent	SNP	G	G	A	rs140948738	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:2334347G>A	ENST00000301732.5	-	25	4495	c.3795C>T	c.(3793-3795)taC>taT	p.Y1265Y	ABCA3_ENST00000382381.3_Silent_p.Y1207Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1265					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGTAGTTCTCGTAGAAACTGC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		18296	0.001		0.0	False		,,,				2504	0.001					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3793-3795)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	120.0	114.0	116.0		3795	-6.8	0.9	16	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1265/1705	2334347	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334347G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3795C>T	16.37:g.2334347G>A						ABCA3_ENST00000382381.3_Silent_p.Y1207Y	p.Y1265Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			25	4495	-		Ovarian(90;0.17)	1265					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.3795C>T	CCDS10466.1																																																																																				0.577	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		40	47	0	0	0	1	0	40	47				
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6340-6342)Gcc>Acc		AHNAK nucleoprotein							189.0	200.0	196.0					11																	62295549		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295549C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6340G>A	11.37:g.62295549C>T	ENSP00000367263:p.Ala2114Thr					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A2114T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6614	-		Melanoma(852;0.155)	2114		A -> T (in dbSNP:rs1298288).			A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6340G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.273123	0.01421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00912	5.55	3.66	-5.3	0.02738	.	.	.	.	.	T	0.01287	0.0042	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.22312	-1.0220	9	0.46703	T	0.11	.	14.1474	0.65360	0.0:0.6689:0.0:0.3311	rs1298288	2114	Q09666	AHNK_HUMAN	T	203;2114	ENSP00000367263:A2114T	ENSP00000244934:A203T	A	-	1	0	AHNAK	62052125	0.000000	0.05858	0.032000	0.17829	0.480000	0.33159	-3.861000	0.00348	-1.808000	0.01234	-1.902000	0.00527	GCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	242	0	0	0	1	0	5	242				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	48	0	0	0	1	0	4	48				
MRGPRX2	117194	broad.mit.edu	37	11	19077106	19077106	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:19077106C>T	ENST00000329773.2	-	2	931	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	282					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAAGAGCCCACGAAGAAGTAA	0.498																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(844-846)Gtg>Atg		MAS-related GPR, member X2							63.0	68.0	66.0					11																	19077106		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077106C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.844G>A	11.37:g.19077106C>T	ENSP00000333800:p.Val282Met						p.V282M	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	931	-			282					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.844G>A	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.301442	0.81136	.	.	ENSG00000183695	ENST00000329773	T	0.36340	1.26	5.25	1.35	0.21983	.	0.224065	0.30686	N	0.009087	T	0.57388	0.2050	M	0.86502	2.82	0.09310	N	1	D	0.76494	0.999	D	0.66979	0.948	T	0.48222	-0.9054	10	0.51188	T	0.08	.	8.7422	0.34564	0.0:0.6716:0.0:0.3284	.	282	Q96LB1	MRGX2_HUMAN	M	282	ENSP00000333800:V282M	ENSP00000333800:V282M	V	-	1	0	MRGPRX2	19033682	0.023000	0.18921	0.023000	0.16930	0.826000	0.46750	0.453000	0.21811	0.471000	0.27319	0.650000	0.86243	GTG		0.498	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		20	39	0	0	0	1	0	20	39				
EMILIN2	84034	broad.mit.edu	37	18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGAATGCACGCAGGGGGTC	0.577																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2074-2076)aCg>aTg		elastin microfibril interfacer 2							103.0	109.0	107.0					18																	2892200		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892200C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2075C>T	18.37:g.2892200C>T	ENSP00000254528:p.Thr692Met						p.T692M	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2234	+			692					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2075C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	2.165	-0.391175	0.04932	.	.	ENSG00000132205	ENST00000254528	T	0.34072	1.38	5.48	0.673	0.17941	.	1.012140	0.07909	N	0.973998	T	0.27278	0.0669	N	0.25426	0.745	0.09310	N	1	B	0.29531	0.247	B	0.26094	0.066	T	0.23190	-1.0195	10	0.44086	T	0.13	-1.9919	12.4774	0.55823	0.0:0.7032:0.0:0.2968	.	692	Q9BXX0	EMIL2_HUMAN	M	692	ENSP00000254528:T692M	ENSP00000254528:T692M	T	+	2	0	EMILIN2	2882200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.676000	0.25247	-0.173000	0.10761	-1.155000	0.01812	ACG		0.577	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		3	45	0	0	0	1	0	3	45				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	68	0	0	0	1	0	4	68				
CD200R1	131450	broad.mit.edu	37	3	112647723	112647723	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:112647723C>T	ENST00000471858.1	-	4	872	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	CD200R1_ENST00000295863.4_Missense_Mutation_p.V192M|CD200R1_ENST00000308611.3_Missense_Mutation_p.V237M	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	214	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGCAGGTCACGGTAGACACA	0.443																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(640-642)Gtg>Atg		CD200 receptor 1							92.0	81.0	84.0					3																	112647723		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112647723C>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.640G>A	3.37:g.112647723C>T	ENSP00000418928:p.Val214Met					CD200R1_ENST00000295863.4_Missense_Mutation_p.V192M|CD200R1_ENST00000308611.3_Missense_Mutation_p.V237M	p.V214M	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			4	872	-			214			Ig-like C2-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.640G>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521296	0.44866	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.45668	0.89;0.89;6.15	5.47	4.54	0.55810	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.380681	0.22475	N	0.059565	T	0.61085	0.2319	M	0.82056	2.57	0.47374	D	0.999402	D;D;D	0.89917	0.965;1.0;1.0	P;D;D	0.77004	0.56;0.989;0.988	T	0.63287	-0.6671	10	0.56958	D	0.05	.	6.975	0.24670	0.0:0.732:0.1769:0.0911	.	192;214;237	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	M	214;237;192	ENSP00000418928:V214M;ENSP00000311035:V237M;ENSP00000295863:V192M	ENSP00000295863:V192M	V	-	1	0	CD200R1	114130413	0.005000	0.15991	0.946000	0.38457	0.877000	0.50540	0.367000	0.20382	2.559000	0.86315	0.655000	0.94253	GTG		0.443	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		13	37	0	0	0	1	0	13	37				
GLYATL2	219970	broad.mit.edu	37	11	58602146	58602146	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:58602146C>G	ENST00000287275.1	-	6	1031	c.641G>C	c.(640-642)tGg>tCg	p.W214S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.W214S|GLYATL2_ENST00000533636.1_5'Flank	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	214						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CATCACAATCCAAGAGACAAG	0.448																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(640-642)tGg>tCg		glycine-N-acyltransferase-like 2	Glycine(DB00145)						75.0	78.0	77.0					11																	58602146		2141	4266	6407	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602146C>G	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.641G>C	11.37:g.58602146C>G	ENSP00000287275:p.Trp214Ser					GLYATL2_ENST00000532258.1_Missense_Mutation_p.W214S	p.W214S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			6	1031	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	214					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.641G>C	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230655	0.58777	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.18657	2.2;2.2	4.19	4.19	0.49359	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.000000	0.64402	U	0.000007	T	0.46889	0.1416	M	0.80183	2.485	0.21325	N	0.999727	D	0.89917	1.0	D	0.91635	0.999	T	0.37150	-0.9718	10	0.87932	D	0	.	12.1845	0.54229	0.0:1.0:0.0:0.0	.	214	Q8WU03	GLYL2_HUMAN	S	214	ENSP00000287275:W214S;ENSP00000434277:W214S	ENSP00000287275:W214S	W	-	2	0	GLYATL2	58358722	0.913000	0.31002	0.016000	0.15963	0.442000	0.32017	1.305000	0.33493	1.904000	0.55121	0.573000	0.79308	TGG		0.448	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		19	25	0	0	0	1	0	19	25				
NLRC4	58484	broad.mit.edu	37	2	32476323	32476323	+	Missense_Mutation	SNP	G	G	A	rs573520680		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:32476323G>A	ENST00000404025.2	-	5	1098	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	NLRC4_ENST00000402280.1_Missense_Mutation_p.R204C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R204C|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	204	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCTGAGACGGAGGAAGAAG	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19511	0.0		0.0	False		,,,				2504	0.0					ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(610-612)Cgt>Tgt		NLR family, CARD domain containing 4							64.0	66.0	65.0					2																	32476323		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476323G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.610C>T	2.37:g.32476323G>A	ENSP00000385090:p.Arg204Cys					NLRC4_ENST00000402280.1_Missense_Mutation_p.R204C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R204C|NLRC4_ENST00000342905.6_Intron	p.R204C			Q9NPP4	NLRC4_HUMAN			5	1098	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		204			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.610C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	3.229	-0.157927	0.06544	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.22336	1.96;1.96;1.96	3.27	2.27	0.28462	NACHT nucleoside triphosphatase (1);	0.483859	0.17223	N	0.182254	T	0.15176	0.0366	L	0.38175	1.15	0.29458	N	0.857974	B	0.15141	0.012	B	0.08055	0.003	T	0.07829	-1.0752	9	0.49607	T	0.09	-2.3375	7.9935	0.30254	0.0:0.0:0.553:0.447	.	204	Q9NPP4	NLRC4_HUMAN	C	204	ENSP00000354159:R204C;ENSP00000385428:R204C;ENSP00000385090:R204C	ENSP00000354159:R204C	R	-	1	0	NLRC4	32329827	0.460000	0.25776	0.040000	0.18447	0.078000	0.17371	1.257000	0.32932	1.836000	0.53414	0.543000	0.68304	CGT		0.527	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		5	76	0	0	0	1	0	5	76				
C1orf94	84970	broad.mit.edu	37	1	34666535	34666537	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:34666535_34666537delAGA	ENST00000488417.1	+	3	1292_1294	c.1172_1174delAGA	c.(1171-1176)gagaag>gag	p.K392del	C1orf94_ENST00000373374.3_In_Frame_Del_p.K202del	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	392										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCAGCCGAGAAGAACTTGCT	0.586																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1171-1176)gag>g		chromosome 1 open reading frame 94																																				SO:0001651	inframe_deletion	84970						protein binding	g.chr1:34666535_34666537delAGA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1172_1174delAGA	1.37:g.34666538_34666540delAGA	ENSP00000435634:p.Lys392del					C1orf94_ENST00000373374.3_In_Frame_Del_p.EK201del	p.EK391del	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1292_1294	+		Myeloproliferative disorder(586;0.0393)	201					B3KVT1|D3DPR3|E9PJ76|Q96IC8	In_Frame_Del	DEL	ENST00000488417.1	37	c.1172_1174delAGA	CCDS44108.1																																																																																				0.586	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		10	6						10	6	---	---	---	---
NIFK-AS1	254128	broad.mit.edu	37	2	122466739	122466740	+	RNA	INS	-	-	T	rs201278872|rs6733674|rs201879622	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:122466739_122466740insT	ENST00000419902.1	+	0	637					NR_037857.1																						tttttttgttgttttttttttg	0.46																																						ENST00000419902.1																			0																																																			0							g.chr2:122466739_122466740insT																													2.37:g.122466749_122466749dupT								NR_037857.1						0	637	+									RNA	INS	ENST00000419902.1	37																																																																																						0.460	AC018737.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000330755.2			2	4						2	4	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48697516	48697526	+	Frame_Shift_Del	DEL	GCATCTGTGAT	GCATCTGTGAT	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:48697516_48697526delGCATCTGTGAT	ENST00000164024.4	-	1	2822_2832	c.2542_2552delATCACAGATGC	c.(2542-2553)atcacagatgccfs	p.ITDA848fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.ITDA848fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	848	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGAGTGTTGGCATCTGTGATGTTGATGTGC	0.507																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2542-2553)cfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697516_48697526delGCATCTGTGAT	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2542_2552delATCACAGATGC	3.37:g.48697516_48697526delGCATCTGTGAT	ENSP00000164024:p.Ile848fs					CELSR3_ENST00000164024.4_Frame_Shift_Del_p.ITDA848fs	p.ITDA848fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2822_2832	-			848			Cadherin 5.		O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.2542_2552delATCACAGATGC	CCDS2775.1																																																																																				0.507	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		28	79						28	79	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115212	66115213	+	Frame_Shift_Ins	INS	-	-	A	rs34676630		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:66115212_66115213insA	ENST00000370621.3	-	6	1436_1437	c.910_911insT	c.(910-912)tggfs	p.W304fs	EYS_ENST00000393380.2_Frame_Shift_Ins_p.W304fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.W304fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.W304fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.W304fs|EYS_ENST00000503581.1_Frame_Shift_Ins_p.W304fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	304					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.W304*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTCTTTTCCAAAAAAGCAGA	0.371																																						ENST00000503581.1																			2	Substitution - Nonsense(2)	p.W304*(2)	lung(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(910-912)gaafs		eyes shut homolog (Drosophila)																																				SO:0001589	frameshift_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115212_66115213insA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.911dupT	6.37:g.66115218_66115218dupA	ENSP00000359655:p.Trp304fs					EYS_ENST00000370621.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000393380.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.E304fs	p.E304fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1447_1448	-			304					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Ins	INS	ENST00000370621.3	37	c.910_911insT																																																																																					0.371	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	126						10	126	---	---	---	---
CD6	923	broad.mit.edu	37	11	60739360	60739367	+	Frame_Shift_Del	DEL	CTGGATTG	CTGGATTG	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:60739360_60739367delCTGGATTG	ENST00000313421.7	+	1	209_216	c.23_30delCTGGATTG	c.(22-30)actggattgfs	p.TGL8fs	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000452451.2_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000352009.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000344028.5_Frame_Shift_Del_p.TGL8fs	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	8					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TTCGGGATCACTGGATTGCTGACGGCAG	0.639																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(22-30)afs		CD6 molecule																																				SO:0001589	frameshift_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60739360_60739367delCTGGATTG		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.23_30delCTGGATTG	11.37:g.60739360_60739367delCTGGATTG	ENSP00000323280:p.Thr8fs					CD6_ENST00000344028.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000452451.2_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000352009.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000346437.4_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000545105.1_3'UTR	p.TGL8fs	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			1	209_216	+			8					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Frame_Shift_Del	DEL	ENST00000313421.7	37	c.23_30delCTGGATTG	CCDS7999.1																																																																																				0.639	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		5	9						5	9	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73811642	73811643	+	Frame_Shift_Ins	INS	-	-	C	rs117535770	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:73811642_73811643insC	ENST00000334126.7	-	15	2885_2886	c.2659_2660insG	c.(2659-2661)gtgfs	p.V887fs	C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.V887fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	887					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGGCTCCGCACCTTATTCCAA	0.441																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2659-2661)gcgfs		C2 calcium-dependent domain containing 3																																				SO:0001589	frameshift_variant	26005					centrosome		g.chr11:73811642_73811643insC	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2660dupG	11.37:g.73811644_73811644dupC	ENSP00000334379:p.Val887fs					C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.A887fs	p.A887fs			Q4AC94	C2CD3_HUMAN			15	2885_2886	-	Breast(11;4.16e-06)		887					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Ins	INS	ENST00000334126.7	37	c.2659_2660insG																																																																																					0.441	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		12	21						12	21	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49428624	49428633	+	Frame_Shift_Del	DEL	GCCCTGAGCC	GCCCTGAGCC	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:49428624_49428633delGCCCTGAGCC	ENST00000301067.7	-	35	10316_10325	c.10317_10326delGGCTCAGGGC	c.(10315-10326)atggctcagggcfs	p.MAQG3439fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3439	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCCAATGCTGCCCTGAGCCATCACTTTCT	0.524																																						ENST00000301067.7																			0											c.(10315-10326)atfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49428624_49428633delGCCCTGAGCC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10317_10326delGGCTCAGGGC	12.37:g.49428624_49428633delGCCCTGAGCC	ENSP00000301067:p.Met3439fs						p.MAQG3439fs	NM_003482.3	NP_003473.3					35	10316_10325	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.10317_10326delGGCTCAGGGC	CCDS44873.1																																																																																				0.524	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			14	57						14	57	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493645	77493647	+	In_Frame_Del	DEL	GCA	GCA	-	rs61991619|rs371633333	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:77493645_77493647delGCA	ENST00000238647.3	-	1	1387_1389	c.489_491delTGC	c.(487-492)gctgcg>gcg	p.163_164AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTGTTCCACCgcagcggcggcgg	0.744																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-492)gcg>gc		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493645_77493647delGCA	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.489_491delTGC	14.37:g.77493645_77493647delGCA	ENSP00000238647:p.Ala164del						p.AA163del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1387_1389	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.489_491delTGC	CCDS9854.1																																																																																				0.744	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		2	4						2	4	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2149944	2149944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:2149944delC	ENST00000262304.4	-	29	10049	c.9841delG	c.(9841-9843)gccfs	p.A3281fs	RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Del_p.A3281fs	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3281					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCAGGTGGCCCTCTGGATG	0.637																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9841-9843)ccfs		polycystic kidney disease 1 (autosomal dominant)							15.0	12.0	13.0					16																	2149944		2141	4214	6355	SO:0001589	frameshift_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2149944delC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9841delG	16.37:g.2149944delC	ENSP00000262304:p.Ala3281fs					PKD1_ENST00000423118.1_Frame_Shift_Del_p.A3281fs	p.A3281fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			29	10049	-			3281					Q15140|Q15141	Frame_Shift_Del	DEL	ENST00000262304.4	37	c.9841delG	CCDS32369.1																																																																																				0.637	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	4						2	4	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			3	3						3	3	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs	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	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		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"""		84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(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	CD962734	TP53	D		c.(625-627)afs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7578222_7578223delTC	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.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron	p.R209fs	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)	6	758_759	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	209		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.626_627delGA	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	10						17	10	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			4	9						4	9	---	---	---	---
CDC25B	994	broad.mit.edu	37	20	3781733	3781735	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:3781733_3781735delACC	ENST00000245960.5	+	7	1395_1397	c.698_700delACC	c.(697-702)gacctg>gtg	p.233_234DL>V	CDC25B_ENST00000340833.4_In_Frame_Del_p.192_193DL>V|CDC25B_ENST00000439880.2_In_Frame_Del_p.219_220DL>V|CDC25B_ENST00000379598.5_In_Frame_Del_p.169_170DL>V|CDC25B_ENST00000344256.6_In_Frame_Del_p.169_170DL>V|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	233					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCGGCCCCCGACCTGATGGTACA	0.65																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(697-702)gtg>g		cell division cycle 25B																																				SO:0001651	inframe_deletion	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3781733_3781735delACC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.698_700delACC	20.37:g.3781733_3781735delACC	ENSP00000245960:p.Asp233_Leu234delinsVal					CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_In_Frame_Del_p.DL169del|CDC25B_ENST00000340833.4_In_Frame_Del_p.DL192del|CDC25B_ENST00000439880.2_In_Frame_Del_p.DL219del|CDC25B_ENST00000344256.6_In_Frame_Del_p.DL169del	p.DL233del	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			7	1395_1397	+			233					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	In_Frame_Del	DEL	ENST00000245960.5	37	c.698_700delACC	CCDS13067.1																																																																																				0.650	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		13	30						13	30	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26222374	26222374	+	Splice_Site	DEL	A	A	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:26222374delA	ENST00000407587.2	+	14	2864		c.e14-1		MYO18B_ENST00000335473.7_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site			Q8IUG5	MY18B_HUMAN	myosin XVIIIB							cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCTTTCCCAGGGCTCAAGA	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.e14-1		myosin XVIIIB							134.0	131.0	132.0					22																	26222374		1961	4142	6103	SO:0001630	splice_region_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26222374delA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2696-1A>-	22.37:g.26222374delA						MYO18B_ENST00000407587.2_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site		NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			14	2945	+								B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Splice_Site	DEL	ENST00000407587.2	37																																																																																						0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	Intron	44	33						44	33	---	---	---	---
