#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
LAYN	143903	broad.mit.edu	37	11	111431122	111431122	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:111431122C>T	ENST00000375615.3	+	8	1273	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.P355L|LAYN_ENST00000436913.2_Missense_Mutation_p.P210L|LAYN_ENST00000533265.1_3'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	363	2 X 4 AA repeats of N-X-I-Y.|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2. {ECO:0000250}.|Interaction with TLN1. {ECO:0000250}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GAGTTCTCCCCAGACCAAATG	0.418																																					Ovarian(17;551 586 12136 22082 22900)	ENST00000436913.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14						c.(628-630)cCa>cTa		layilin							112.0	106.0	108.0					11																	111431122		2201	4297	6498	SO:0001583	missense	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111431122C>T		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.1088C>T	11.37:g.111431122C>T	ENSP00000364765:p.Pro363Leu					LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.P355L|LAYN_ENST00000375615.3_Missense_Mutation_p.P363L	p.P210L	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	6	1030	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	363					A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	ENST00000375615.3	37	c.629C>T	CCDS58178.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461169	0.63513	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000436913;ENST00000541011	T;T	0.04970	3.92;3.52	6.17	4.21	0.49690	.	0.338483	0.27500	N	0.019100	T	0.15089	0.0364	M	0.63428	1.95	0.32883	D	0.510879	D;D;B	0.64830	0.98;0.994;0.005	P;P;B	0.59357	0.856;0.795;0.007	T	0.10132	-1.0643	10	0.66056	D	0.02	-8.3525	6.3813	0.21536	0.1191:0.6002:0.21:0.0706	.	210;363;355	B4DJU0;Q6UX15;Q6UX15-2	.;LAYN_HUMAN;.	L	355;363;210;318	ENSP00000364764:P355L;ENSP00000364765:P363L	ENSP00000364764:P355L	P	+	2	0	LAYN	110936332	0.004000	0.15560	0.900000	0.35374	0.954000	0.61252	0.338000	0.19858	1.621000	0.50320	0.655000	0.94253	CCA		0.418	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		13	75	0	0	0	1	0	13	75				
DNM1P47	100216544	broad.mit.edu	37	15	102292812	102292812	+	RNA	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:102292812G>T	ENST00000561463.1	+	0	858									DNM1 pseudogene 47																		CTGCACTCGCGTGGGAACGAG	0.607																																						ENST00000561463.1																			0																																																			0							g.chr15:102292812G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292812G>T														0	858	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	25	1	0	0.00909568	1	0.00909568	3	25				
UBE2J1	51465	broad.mit.edu	37	6	90039674	90039674	+	Silent	SNP	G	G	A	rs199520794		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:90039674G>A	ENST00000435041.2	-	8	959	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	227					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCTGGAGTCCGTACTAGGAAA	0.428													G|||	0	0.0	0.0	0.0	5008	,	,		17292	0.0		0.0	False		,,,				2504	0.0					ENST00000435041.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18						c.(679-681)taC>taT		ubiquitin-conjugating enzyme E2, J1		G		0,4406		0,0,2203	78.0	84.0	82.0		681	0.7	0.1	6		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBE2J1	NM_016021.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		227/319	90039674	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90039674G>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.681C>T	6.37:g.90039674G>A							p.Y227Y	NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	8	959	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	227					A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Silent	SNP	ENST00000435041.2	37	c.681C>T	CCDS5021.1																																																																																				0.428	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		16	55	0	0	0	1	0	16	55				
HRNR	388697	broad.mit.edu	37	1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:152187663G>A	ENST00000368801.2	-	3	6517	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R2148*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587																																						ENST00000368801.2																			1	Substitution - Nonsense(1)	p.R2148*(1)	endometrium(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6442-6444)Cga>Tga		hornerin																																				SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187663G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6442C>T	1.37:g.152187663G>A	ENSP00000357791:p.Arg2148*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2148*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6517	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2148					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6442C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	44	10.888224	0.99483	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.06	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	4.6058	0.12376	0.128:0.2295:0.6425:0.0	.	.	.	.	X	2148	.	ENSP00000357791:R2148X	R	-	1	2	HRNR	150454287	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.586000	0.23894	0.829000	0.34733	0.603000	0.83216	CGA		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		30	2110	0	0	0	1	0	30	2110				
ABCC4	10257	broad.mit.edu	37	13	95858796	95858796	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:95858796C>T	ENST00000376887.4	-	8	1265	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q|ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R384Q(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTGGATTCTTCGGATGCTGAC	0.478																																						ENST00000376887.4																			2	Substitution - Missense(2)	p.R384Q(2)	large_intestine(2)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1150-1152)cGa>cAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						92.0	88.0	89.0					13																	95858796		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95858796C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1151G>A	13.37:g.95858796C>T	ENSP00000366084:p.Arg384Gln					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q|ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q	p.R384Q	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			8	1265	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		384					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1151G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757812	0.31137	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94417	-2.89;-2.89;-3.42;-2.89	5.34	2.21	0.28008	ABC transporter, transmembrane domain, type 1 (1);	0.398379	0.25848	N	0.027915	D	0.88665	0.6498	N	0.25485	0.75	0.21386	N	0.999704	B;B;B;B;B	0.22080	0.02;0.029;0.005;0.064;0.001	B;B;B;B;B	0.18561	0.006;0.006;0.022;0.006;0.006	T	0.79047	-0.1963	10	0.39692	T	0.17	.	11.4336	0.50056	0.0:0.762:0.0:0.238	.	309;384;384;384;384	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	Q	384;384;309;384	ENSP00000388657:R384Q;ENSP00000366084:R384Q;ENSP00000442024:R309Q;ENSP00000398562:R384Q	ENSP00000366084:R384Q	R	-	2	0	ABCC4	94656797	0.000000	0.05858	0.991000	0.47740	0.988000	0.76386	0.466000	0.22019	0.621000	0.30232	0.655000	0.94253	CGA		0.478	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		19	50	0	0	0	1	0	19	50				
JARID2	3720	broad.mit.edu	37	6	15501350	15501350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:15501350G>T	ENST00000341776.2	+	8	2402	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	JARID2_ENST00000397311.3_Nonsense_Mutation_p.E548*|JARID2_ENST00000541660.1_Nonsense_Mutation_p.E682*	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	720					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCGGCGGCTGGAGAAGGAGGT	0.642																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2158-2160)Gag>Tag		jumonji, AT rich interactive domain 2							61.0	73.0	69.0					6																	15501350		2203	4300	6503	SO:0001587	stop_gained	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501350G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2158G>T	6.37:g.15501350G>T	ENSP00000341280:p.Glu720*					JARID2_ENST00000541660.1_Nonsense_Mutation_p.E682*|JARID2_ENST00000397311.3_Nonsense_Mutation_p.E548*	p.E720*	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			8	2402	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	720					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Nonsense_Mutation	SNP	ENST00000341776.2	37	c.2158G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	45	11.455157	0.99563	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	.	.	.	5.05	5.05	0.67936	.	0.114726	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-20.4733	18.4009	0.90515	0.0:0.0:1.0:0.0	.	.	.	.	X	720;548;682	.	ENSP00000341280:E720X	E	+	1	0	JARID2	15609329	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.414000	0.80117	2.339000	0.79563	0.561000	0.74099	GAG		0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		4	124	1	0	0.00024832	1	0.000251587	4	124				
DNAH9	1770	broad.mit.edu	37	17	11840726	11840726	+	Missense_Mutation	SNP	G	G	A	rs375302076		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:11840726G>A	ENST00000262442.4	+	66	12615	c.12547G>A	c.(12547-12549)Gca>Aca	p.A4183T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A4107T|DNAH9_ENST00000608377.1_Missense_Mutation_p.A495T|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4183					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACCCGAACGCAGAGATTGG	0.577																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12547-12549)Gca>Aca		dynein, axonemal, heavy chain 9		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	107.0	108.0	108.0		12547,1483	3.9	0.2	17		108	0,8600		0,0,4300	no	missense,missense	DNAH9	NM_001372.3,NM_004662.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	4183/4487,495/799	11840726	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11840726G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12547G>A	17.37:g.11840726G>A	ENSP00000262442:p.Ala4183Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.A4107T|DNAH9_ENST00000396001.2_Missense_Mutation_p.A495T	p.A4183T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	66	12615	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4183					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12547G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684212	0.88639	2.27E-4	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.17691	2.26;2.26;2.26	4.89	3.89	0.44902	Dynein heavy chain (1);	0.289562	0.37623	N	0.002003	T	0.61590	0.2359	H	0.99565	4.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.80462	-0.1372	10	0.87932	D	0	.	14.716	0.69269	0.0:0.0:0.8539:0.1461	.	4183	Q9NYC9	DYH9_HUMAN	T	4183;4107;2689;495	ENSP00000262442:A4183T;ENSP00000414874:A4107T;ENSP00000379323:A495T	ENSP00000262442:A4183T	A	+	1	0	DNAH9	11781451	1.000000	0.71417	0.165000	0.22776	0.892000	0.51952	7.681000	0.84073	1.375000	0.46248	0.643000	0.83706	GCA		0.577	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	67	0	0	0	1	0	19	67				
HR	55806	broad.mit.edu	37	8	21978705	21978705	+	Missense_Mutation	SNP	C	C	T	rs201308362	byFrequency	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:21978705C>T	ENST00000381418.4	-	10	3720	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H	HR_ENST00000312841.8_Missense_Mutation_p.R747H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	747					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCGGCCAGCACGGTCCTCTGC	0.632													C|||	5	0.000998403	0.0	0.0	5008	,	,		17250	0.0		0.0	False		,,,				2504	0.0051					ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(2239-2241)cGt>cAt		hair growth associated		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	82.0	95.0	90.0		2240,2240	4.2	0.6	8		90	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	HR	NM_005144.4,NM_018411.4	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	747/1190,747/1135	21978705	3,13003	2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978705C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2240G>A	8.37:g.21978705C>T	ENSP00000370826:p.Arg747His					HR_ENST00000312841.8_Missense_Mutation_p.R747H	p.R747H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	10	3720	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	747					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2240G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930330	0.73327	0.0	3.49E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72394	-0.65;-0.65	5.29	4.17	0.49024	.	0.292074	0.25906	N	0.027536	T	0.58424	0.2121	N	0.22421	0.69	0.09310	N	0.999993	D;P	0.58620	0.983;0.947	P;B	0.48627	0.584;0.379	T	0.52555	-0.8560	10	0.41790	T	0.15	-4.7059	6.7202	0.23327	0.0:0.8468:0.0:0.1532	.	747;747	O43593-2;O43593	.;HAIR_HUMAN	H	747	ENSP00000370826:R747H;ENSP00000326765:R747H	ENSP00000326765:R747H	R	-	2	0	HR	22034650	0.918000	0.31147	0.631000	0.29282	0.906000	0.53458	1.493000	0.35605	2.622000	0.88805	0.561000	0.74099	CGT		0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			13	126	0	0	0	1	0	13	126				
CACNA1D	776	broad.mit.edu	37	3	53783386	53783386	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:53783386A>G	ENST00000350061.5	+	27	3917	c.3406A>G	c.(3406-3408)Atc>Gtc	p.I1136V	CACNA1D_ENST00000540742.1_Missense_Mutation_p.I43V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1136V|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1156V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1136	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCATCTACATCATCATTGT	0.428																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3466-3468)Atc>Gtc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						163.0	137.0	146.0					3																	53783386		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783386A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3406A>G	3.37:g.53783386A>G	ENSP00000288133:p.Ile1136Val					CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1136V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1136V|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I43V	p.I1156V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3584	+			1136			Dihydropyridine binding (By similarity).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3466A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.978085	0.92982	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21;-4.39	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.64676	1.99	0.80722	D	1	D;P;D;P;D	0.69078	0.983;0.812;0.997;0.745;0.997	D;B;D;D;D	0.76071	0.925;0.421;0.987;0.928;0.983	D	0.99885	1.1121	10	0.87932	D	0	.	15.5755	0.76380	1.0:0.0:0.0:0.0	.	1136;43;829;1136;1156	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	V	1136;1156;1136;829;43	ENSP00000288133:I1136V;ENSP00000288139:I1156V;ENSP00000409174:I1136V;ENSP00000418014:I829V;ENSP00000438229:I43V	ENSP00000288139:I1156V	I	+	1	0	CACNA1D	53758426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.281000	0.76405	0.533000	0.62120	ATC		0.428	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		24	45	0	0	0	1	0	24	45				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647																																						ENST00000346246.5																			1	Substitution - coding silent(1)	p.L354L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1060-1062)ctT>ctC		AT rich interactive domain 3B (BRIGHT-like)							48.0	57.0	54.0					15																	74883672		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883672T>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1062T>C	15.37:g.74883672T>C							p.L354L	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1293	+			354			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1062T>C	CCDS10264.1																																																																																				0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		5	119	0	0	0	1	0	5	119				
OR51E2	81285	broad.mit.edu	37	11	4703777	4703777	+	Silent	SNP	G	G	A	rs376037939	byFrequency	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		21712	0.0		0.0	False		,,,				2504	0.0031					ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(163-165)caC>caT		olfactory receptor, family 51, subfamily E, member 2		G		0,4402		0,0,2201	117.0	98.0	104.0		165	-2.8	0.0	11		104	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR51E2	NM_030774.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		55/321	4703777	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703777G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.165C>T	11.37:g.4703777G>A							p.H55H	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	404	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	55					B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.165C>T	CCDS7751.1																																																																																				0.517	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		10	62	0	0	0	1	0	10	62				
RBMS3	27303	broad.mit.edu	37	3	30029663	30029663	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:30029663G>A	ENST00000383767.2	+	13	1464	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	RBMS3_ENST00000456853.1_Silent_p.G373G|RBMS3_ENST00000396583.3_Silent_p.G373G|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Silent_p.G358G|RBMS3_ENST00000434693.2_Silent_p.G375G|RBMS3_ENST00000452462.1_Silent_p.G360G|RBMS3_ENST00000273139.9_Silent_p.G360G			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	376					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTATGCAAGGGACCTACATTC	0.403																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1123-1125)ggG>ggA		RNA binding motif, single stranded interacting protein 3							110.0	99.0	103.0					3																	30029663		2203	4300	6503	SO:0001819	synonymous_variant	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30029663G>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1128G>A	3.37:g.30029663G>A						RBMS3_ENST00000452462.1_Silent_p.G360G|RBMS3_ENST00000383767.2_Silent_p.G376G|RBMS3_ENST00000396583.3_Silent_p.G373G|RBMS3_ENST00000383766.2_Silent_p.G358G|RBMS3_ENST00000456853.1_Silent_p.G373G|RBMS3_ENST00000273139.9_Silent_p.G360G|RBMS3_ENST00000473799.1_3'UTR	p.G375G	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			13	1825	+		Ovarian(412;0.0956)	376					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	c.1125G>A	CCDS33724.1																																																																																				0.403	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		6	27	0	0	0	1	0	6	27				
IL1RL1	9173	broad.mit.edu	37	2	102965586	102965586	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:102965586T>C	ENST00000233954.1	+	10	1436	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	389	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GAACTACAAATCCAGTACAGA	0.388																																						ENST00000233954.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1165-1167)Tcc>Ccc		interleukin 1 receptor-like 1							198.0	177.0	184.0					2																	102965586		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102965586T>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1165T>C	2.37:g.102965586T>C	ENSP00000233954:p.Ser389Pro						p.S389P	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			10	1436	+			389			TIR.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.1165T>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	4.452	0.083652	0.08533	.	.	ENSG00000115602	ENST00000233954	T	0.03330	3.97	5.28	-10.6	0.00265	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.495420	0.03700	N	0.248489	T	0.01558	0.0050	N	0.12182	0.205	0.09310	N	1	B	0.34349	0.45	B	0.32090	0.14	T	0.35992	-0.9766	10	0.25751	T	0.34	.	1.4114	0.02292	0.409:0.1735:0.2955:0.122	.	389	Q01638	ILRL1_HUMAN	P	389	ENSP00000233954:S389P	ENSP00000233954:S389P	S	+	1	0	IL1RL1	102332018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.442000	0.01014	-2.745000	0.00377	-1.380000	0.01176	TCC		0.388	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		36	96	0	0	0	1	0	36	96				
FAM26D	221301	broad.mit.edu	37	6	116879357	116879357	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:116879357A>G	ENST00000368596.3	+	2	972	c.928A>G	c.(928-930)Att>Gtt	p.I310V	FAM26D_ENST00000368597.2_Missense_Mutation_p.I124V|FAM26D_ENST00000416171.2_Missense_Mutation_p.I166V|FAM26D_ENST00000405399.1_Missense_Mutation_p.I167V			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	310					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		ATCAAGAGGTATTGAATTAAA	0.398																																						ENST00000368596.3																			0				endometrium(1)|lung(5)	6						c.(928-930)Att>Gtt		family with sequence similarity 26, member D							80.0	76.0	77.0					6																	116879357		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879357A>G	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.928A>G	6.37:g.116879357A>G	ENSP00000357585:p.Ile310Val					FAM26D_ENST00000405399.1_Missense_Mutation_p.I167V|FAM26D_ENST00000368597.2_Missense_Mutation_p.I124V|FAM26D_ENST00000416171.2_Missense_Mutation_p.I166V	p.I310V			Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	2	972	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	310					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.928A>G		.	.	.	.	.	.	.	.	.	.	A	8.993	0.978266	0.18812	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000405399;ENST00000368596	T;T;T;T	0.51325	0.71;0.77;0.78;2.15	5.99	5.99	0.97316	.	0.000000	0.56097	D	0.000035	T	0.41442	0.1159	L	0.50333	1.59	0.31971	N	0.607128	D;D	0.60575	0.988;0.988	P;P	0.58873	0.847;0.797	T	0.35051	-0.9804	10	0.14656	T	0.56	-22.6527	12.8093	0.57631	0.8641:0.1359:0.0:0.0	.	166;310	B4DTQ0;Q5JW98	.;FA26D_HUMAN	V	166;124;167;310	ENSP00000416976:I166V;ENSP00000357586:I124V;ENSP00000385836:I167V;ENSP00000357585:I310V	ENSP00000357585:I310V	I	+	1	0	FAM26D	116986050	0.936000	0.31750	0.932000	0.37286	0.244000	0.25665	2.033000	0.41136	2.296000	0.77279	0.533000	0.62120	ATT		0.398	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	NM_153036		10	70	0	0	0	1	0	10	70				
PCDHA10	56139	broad.mit.edu	37	5	140237073	140237073	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140237073C>T	ENST00000307360.5	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D480D|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D480D(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGTGGGACGCGGACGCGC	0.657																																						ENST00000307360.5																			2	Substitution - coding silent(2)	p.D480D(2)	endometrium(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1438-1440)gaC>gaT									89.0	87.0	88.0					5																	140237073		2196	4273	6469	SO:0001819	synonymous_variant	0							g.chr5:140237073C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1440C>T	5.37:g.140237073C>T						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D480D|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.D480D	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1440	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1440C>T	CCDS54921.1																																																																																				0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		31	118	0	0	0	1	0	31	118				
ZNF311	282890	broad.mit.edu	37	6	28963224	28963224	+	Silent	SNP	T	T	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28963224T>G	ENST00000377179.3	-	7	2067	c.1555A>C	c.(1555-1557)Aga>Cga	p.R519R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGTGGATTCTCTGATGGATG	0.468																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1555-1557)Aga>Cga		zinc finger protein 311							82.0	80.0	81.0					6																	28963224		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963224T>G	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1555A>C	6.37:g.28963224T>G						ZNF311_ENST00000483450.1_5'UTR	p.R519R	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	2067	-			519					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.1555A>C	CCDS34357.1																																																																																				0.468	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		9	69	0	0	0	1	0	9	69				
MICB	4277	broad.mit.edu	37	6	31475003	31475003	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:31475003G>A	ENST00000252229.6	+	4	897	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MICB_ENST00000538442.1_Missense_Mutation_p.R241H|MICB_ENST00000399150.3_Missense_Mutation_p.R230H	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACCAGGATTCGCCAAGGAGAG	0.607																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(817-819)cGc>cAc		MHC class I polypeptide-related sequence B							54.0	61.0	58.0					6																	31475003		1385	2617	4002	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31475003G>A		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.818G>A	6.37:g.31475003G>A	ENSP00000252229:p.Arg273His					MICB_ENST00000538442.1_Missense_Mutation_p.R241H|MICB_ENST00000399150.3_Missense_Mutation_p.R230H	p.R273H	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			4	897	+			273			Ig-like C1-type.			Missense_Mutation	SNP	ENST00000252229.6	37	c.818G>A	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	-	13.74	2.327217	0.41197	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.02890	4.12;4.12;4.12	2.2	1.3	0.21679	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.131670	0.06978	U	0.819325	T	0.03783	0.0107	L	0.48642	1.525	0.09310	N	1	P;D;P	0.67145	0.955;0.996;0.952	P;D;P	0.67900	0.478;0.954;0.765	T	0.45425	-0.9262	10	0.59425	D	0.04	.	8.5252	0.33300	0.0:0.7402:0.2598:0.0	.	241;230;273	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	H	241;230;273	ENSP00000442345:R241H;ENSP00000382103:R230H;ENSP00000252229:R273H	ENSP00000252229:R273H	R	+	2	0	MICB	31582982	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.057000	0.11768	0.455000	0.26910	0.305000	0.20034	CGC		0.607	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		12	29	0	0	0	1	0	12	29				
OR4C12	283093	broad.mit.edu	37	11	50003756	50003756	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:50003756C>T	ENST00000335238.4	-	1	315	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GAGCCATACACCCATTAAAGG	0.433																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(280-282)ggG>ggA		olfactory receptor, family 4, subfamily C, member 12							117.0	117.0	117.0					11																	50003756		2201	4296	6497	SO:0001819	synonymous_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003756C>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.282G>A	11.37:g.50003756C>T							p.G94G	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	315	-			94					B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	c.282G>A	CCDS31496.1																																																																																				0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		15	94	0	0	0	1	0	15	94				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	25	0	0	0	1	0	3	25				
PCDHA7	56141	broad.mit.edu	37	5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	567					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCTGGCGCCTCGGGTG	0.692																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1699-1701)gCg>gTg									83.0	90.0	88.0					5																	140215668		2203	4298	6501	SO:0001583	missense	0							g.chr5:140215668C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1700C>T	5.37:g.140215668C>T	ENSP00000436426:p.Ala567Val					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.A567V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1700	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1700C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	3.898	-0.022581	0.07634	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.60548	0.18;0.18	3.91	0.785	0.18584	Cadherin-like (1);	0.000000	0.31709	U	0.007186	T	0.34890	0.0913	L	0.29908	0.895	0.22378	N	0.999156	B;B	0.13594	0.008;0.003	B;B	0.19946	0.027;0.001	T	0.11966	-1.0566	10	0.15499	T	0.54	.	2.6958	0.05134	0.1647:0.4751:0.2511:0.109	.	567;567	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	567	ENSP00000436426:A567V;ENSP00000367365:A567V	ENSP00000367365:A567V	A	+	2	0	PCDHA7	140195852	0.000000	0.05858	0.021000	0.16686	0.026000	0.11368	-0.334000	0.07883	-0.130000	0.11599	-0.652000	0.03908	GCG		0.692	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		38	121	0	0	0	1	0	38	121				
SETD2	29072	broad.mit.edu	37	3	47144880	47144880	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:47144880G>A	ENST00000409792.3	-	7	4915	c.4873C>T	c.(4873-4875)Cgt>Tgt	p.R1625C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1122C(1)|p.R1625C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCATGAAACGAGAGCAATTT	0.348			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)	p.R1122C(1)|p.R1625C(1)	kidney(2)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4873-4875)Cgt>Tgt		SET domain containing 2							165.0	153.0	157.0					3																	47144880		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47144880G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4873C>T	3.37:g.47144880G>A	ENSP00000386759:p.Arg1625Cys						p.R1625C	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	7	4915	-		Acute lymphoblastic leukemia(5;0.0169)	1625			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4873C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006118	0.93287	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.86097	-2.07	5.83	5.83	0.93111	SET domain (3);	0.000000	0.53938	D	0.000046	D	0.96430	0.8835	H	0.99719	4.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98095	1.0411	10	0.87932	D	0	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	1625;1625	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1625	ENSP00000386759:R1625C	ENSP00000386759:R1625C	R	-	1	0	SETD2	47119884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.775000	0.95449	0.650000	0.86243	CGT		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	99	0	0	0	1	0	12	99				
BTN2A2	10385	broad.mit.edu	37	6	26393183	26393183	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:26393183C>T	ENST00000356709.4	+	8	1671	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	BTN2A2_ENST00000352867.2_Silent_p.H404H|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Silent_p.H310H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.H520H	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	520					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGGACCCACCAGAGCCTAT	0.567																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1558-1560)caC>caT		butyrophilin, subfamily 2, member A2							49.0	48.0	49.0					6																	26393183		2203	4300	6503	SO:0001819	synonymous_variant	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393183C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1560C>T	6.37:g.26393183C>T						BTN2A2_ENST00000482536.1_Silent_p.H310H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.H520H|BTN2A2_ENST00000352867.2_Silent_p.H404H	p.H520H	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1671	+			520					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	c.1560C>T	CCDS4606.1																																																																																				0.567	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			12	40	0	0	0	1	0	12	40				
GABRR1	2569	broad.mit.edu	37	6	89888740	89888740	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:89888740G>A	ENST00000454853.2	-	10	1299	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	GABRR1_ENST00000435811.1_Silent_p.L380L|GABRR1_ENST00000369451.3_Silent_p.L310L	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	397					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTGCCGTCCAGCATCGCAGTG	0.562																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(1138-1140)Ctg>Ttg		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						96.0	83.0	88.0					6																	89888740		2203	4300	6503	SO:0001819	synonymous_variant	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888740G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1189C>T	6.37:g.89888740G>A						GABRR1_ENST00000369451.3_Silent_p.L310L|GABRR1_ENST00000454853.2_Silent_p.L397L	p.L380L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	9	1592	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	397					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	ENST00000454853.2	37	c.1138C>T	CCDS5019.2																																																																																				0.562	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			13	45	0	0	0	1	0	13	45				
NGEF	25791	broad.mit.edu	37	2	233750036	233750036	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233750036G>A	ENST00000264051.3	-	10	1669	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	NGEF_ENST00000539537.1_Missense_Mutation_p.T187M|NGEF_ENST00000373552.4_Missense_Mutation_p.T372M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	464					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCTGTTCCGTGCGGCTCAT	0.597																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1390-1392)aCg>aTg		neuronal guanine nucleotide exchange factor							290.0	242.0	258.0					2																	233750036		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233750036G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1391C>T	2.37:g.233750036G>A	ENSP00000264051:p.Thr464Met					NGEF_ENST00000539537.1_Missense_Mutation_p.T187M|NGEF_ENST00000373552.4_Missense_Mutation_p.T372M	p.T464M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	10	1669	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	464					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1391C>T	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.441577|3.441577	0.63067|0.63067	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000424488|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114	.|T;T;T;T	.|0.75367	.|1.54;1.54;1.54;-0.93	4.59|4.59	4.59|4.59	0.56863|0.56863	.|Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80565|0.80565	0.4647|0.4647	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.971;1.0	.|P;D	.|0.87578	.|0.59;0.998	T|T	0.79766|0.79766	-0.1665|-0.1665	5|10	.|0.35671	.|T	.|0.21	-23.9279|-23.9279	17.3781|17.3781	0.87398|0.87398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;464	.|E9PC42;Q8N5V2	.|.;NGEF_HUMAN	W|M	56|464;372;354;187;187	.|ENSP00000264051:T464M;ENSP00000362653:T372M;ENSP00000439035:T187M;ENSP00000401063:T187M	.|ENSP00000264051:T464M	R|T	-|-	1|2	2|0	NGEF|NGEF	233458280|233458280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.691000|0.691000	0.40173|0.40173	9.005000|9.005000	0.93587|0.93587	2.115000|2.115000	0.64714|0.64714	0.455000|0.455000	0.32223|0.32223	CGG|ACG		0.597	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		30	88	0	0	0	1	0	30	88				
DOCK8	81704	broad.mit.edu	37	9	325674	325674	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:325674C>T	ENST00000453981.1	+	8	943	c.831C>T	c.(829-831)ttC>ttT	p.F277F	DOCK8_ENST00000469391.1_Silent_p.F209F|DOCK8_ENST00000432829.2_Silent_p.F209F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	277					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGTAGGTTCGAGATTGAAA	0.358																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(625-627)ttC>ttT		dedicator of cytokinesis 8							140.0	139.0	140.0					9																	325674		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:325674C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.831C>T	9.37:g.325674C>T						DOCK8_ENST00000453981.1_Silent_p.F277F|DOCK8_ENST00000469391.1_Silent_p.F209F	p.F209F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	8	943	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	277					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.627C>T	CCDS6440.2																																																																																				0.358	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		20	108	0	0	0	1	0	20	108				
TMOD2	29767	broad.mit.edu	37	15	52074950	52074950	+	Silent	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:52074950A>G	ENST00000249700.4	+	7	878	c.657A>G	c.(655-657)gcA>gcG	p.A219A	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.A175A	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	219					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGGAATTTGCAAAGGCTCTGG	0.463																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(655-657)gcA>gcG		tropomodulin 2 (neuronal)							164.0	166.0	166.0					15																	52074950		2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52074950A>G	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.657A>G	15.37:g.52074950A>G						TMOD2_ENST00000539962.2_Silent_p.A175A|TMOD2_ENST00000435126.2_Intron	p.A219A	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	7	878	+			219					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.657A>G	CCDS10144.1																																																																																				0.463	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			33	103	0	0	0	1	0	33	103				
MORN5	254956	broad.mit.edu	37	9	124929186	124929186	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:124929186G>A	ENST00000373764.3	+	2	249	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	MORN5_ENST00000536616.1_Missense_Mutation_p.A63T|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	63										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AAACGGATTGGCCATAAAGGT	0.557																																						ENST00000536616.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(187-189)Gcc>Acc		MORN repeat containing 5							54.0	43.0	46.0					9																	124929186		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124929186G>A	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.187G>A	9.37:g.124929186G>A	ENSP00000362869:p.Ala63Thr					MORN5_ENST00000373764.3_Missense_Mutation_p.A63T|MORN5_ENST00000486801.1_3'UTR	p.A63T			Q5VZ52	MORN5_HUMAN			2	225	+			63					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.187G>A	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723453	0.30593	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.43294	0.95;0.95;0.95	4.8	3.68	0.42216	.	1.239860	0.05398	N	0.540137	T	0.56108	0.1963	M	0.87180	2.865	0.09310	N	1	P;P;P	0.45634	0.656;0.863;0.656	B;P;B	0.46685	0.309;0.524;0.309	T	0.50118	-0.8865	10	0.16420	T	0.52	-17.3424	11.2127	0.48808	0.1087:0.0:0.8913:0.0	.	47;63;63	Q5T7S4;B7Z7I5;Q5VZ52	.;.;MORN5_HUMAN	T	63;63;47	ENSP00000362869:A63T;ENSP00000437483:A63T;ENSP00000409949:A47T	ENSP00000362869:A63T	A	+	1	0	MORN5	123969007	0.998000	0.40836	0.290000	0.24890	0.051000	0.14879	2.715000	0.47210	2.220000	0.72140	0.462000	0.41574	GCC		0.557	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		8	16	0	0	0	1	0	8	16				
ALPP	250	broad.mit.edu	37	2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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)		GGCTGCCCTGCGCCTGCTGAG	0.632																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(955-957)Cgc>Tgc		alkaline phosphatase, placental							74.0	87.0	83.0					2																	233245422		2201	4298	6499	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245422C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.955C>T	2.37:g.233245422C>T	ENSP00000375881:p.Arg319Cys					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.R319C	NM_001632.3	NP_001623.3	P05187	PPB1_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)	8	1224	+		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)	319					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.955C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	6.741	0.505438	0.12822	.	.	ENSG00000163283	ENST00000392027	D	0.96200	-3.94	3.2	-0.594	0.11664	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.158180	0.06252	N	0.692336	D	0.95382	0.8501	M	0.93150	3.385	0.21933	N	0.999462	B	0.31581	0.329	B	0.25405	0.06	D	0.86899	0.2053	10	0.87932	D	0	.	6.4088	0.21680	0.4331:0.4747:0.0:0.0922	.	319	P05187	PPB1_HUMAN	C	319	ENSP00000375881:R319C	ENSP00000375881:R319C	R	+	1	0	ALPP	232953666	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.178000	0.09782	-0.021000	0.14009	0.305000	0.20034	CGC		0.632	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		14	85	0	0	0	1	0	14	85				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		3	56	0	0	0	1	0	3	56				
MYOF	26509	broad.mit.edu	37	10	95082849	95082849	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr10:95082849G>A	ENST00000359263.4	-	48	5441	c.5442C>T	c.(5440-5442)gaC>gaT	p.D1814D	MYOF_ENST00000371501.4_Silent_p.D1814D|MYOF_ENST00000371502.4_Silent_p.D1804D|MYOF_ENST00000358334.5_Silent_p.D1801D|MYOF_ENST00000485212.1_5'Flank	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1814					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACGTAGATGTCACTCATTT	0.458																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5440-5442)gaC>gaT		myoferlin							296.0	280.0	285.0					10																	95082849		1977	4169	6146	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95082849G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5442C>T	10.37:g.95082849G>A						MYOF_ENST00000359263.4_Silent_p.D1814D|MYOF_ENST00000371502.4_Silent_p.D1804D|MYOF_ENST00000358334.5_Silent_p.D1801D	p.D1814D			Q9NZM1	MYOF_HUMAN			48	5564	-			1814					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5442C>T	CCDS41551.1																																																																																				0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		45	124	0	0	0	1	0	45	124				
OR3A3	8392	broad.mit.edu	37	17	3324353	3324353	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:3324353C>T	ENST00000291231.1	+	1	492	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	164					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTTCACCAACGCACTGACCC	0.587																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(490-492)aaC>aaT		olfactory receptor, family 3, subfamily A, member 3							165.0	151.0	156.0					17																	3324353		2203	4300	6503	SO:0001819	synonymous_variant	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324353C>T	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.492C>T	17.37:g.3324353C>T							p.N164N	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	492	+			164					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Silent	SNP	ENST00000291231.1	37	c.492C>T	CCDS11025.1																																																																																				0.587	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			13	132	0	0	0	1	0	13	132				
TEX15	56154	broad.mit.edu	37	8	30704051	30704051	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:30704051C>T	ENST00000256246.2	-	1	2557	c.2483G>A	c.(2482-2484)gGt>gAt	p.G828D	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	828					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCATTTTCACCAAAAGGCTG	0.358																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(2482-2484)gGt>gAt		testis expressed 15							57.0	54.0	55.0					8																	30704051		2202	4299	6501	SO:0001583	missense	56154							g.chr8:30704051C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2483G>A	8.37:g.30704051C>T	ENSP00000256246:p.Gly828Asp						p.G828D	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2557	-			828						Missense_Mutation	SNP	ENST00000256246.2	37	c.2483G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699633	0.30142	.	.	ENSG00000133863	ENST00000256246	T	0.13778	2.56	6.03	3.28	0.37604	.	0.445335	0.21365	N	0.075732	T	0.11580	0.0282	L	0.32530	0.975	0.09310	N	1	P	0.38078	0.617	B	0.40477	0.33	T	0.14392	-1.0474	10	0.87932	D	0	.	6.4726	0.22018	0.0:0.6918:0.1489:0.1594	.	828	Q9BXT5	TEX15_HUMAN	D	828	ENSP00000256246:G828D	ENSP00000256246:G828D	G	-	2	0	TEX15	30823593	0.292000	0.24362	0.011000	0.14972	0.006000	0.05464	0.597000	0.24059	0.435000	0.26365	0.655000	0.94253	GGT		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			28	77	0	0	0	1	0	28	77				
SERINC2	347735	broad.mit.edu	37	1	31897680	31897680	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:31897680G>A	ENST00000373709.3	+	3	502	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	SERINC2_ENST00000536384.1_Missense_Mutation_p.V122M|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.V122M|SERINC2_ENST00000373710.1_Missense_Mutation_p.V127M	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	118					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CATGCTCTGCGTGAGCAGCAG	0.652																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(379-381)Gtg>Atg		serine incorporator 2							10.0	13.0	12.0					1																	31897680		2194	4282	6476	SO:0001583	missense	347735					integral to membrane		g.chr1:31897680G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.352G>A	1.37:g.31897680G>A	ENSP00000362813:p.Val118Met					SERINC2_ENST00000536384.1_Missense_Mutation_p.V122M|SERINC2_ENST00000536859.1_Missense_Mutation_p.V122M|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.V118M	p.V127M	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	4	652	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	118					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.379G>A	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357270	0.82243	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.995	T	0.73480	-0.3969	10	0.87932	D	0	-30.8715	16.5458	0.84445	0.0:0.0:1.0:0.0	.	122;127;122;118	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	M	127;122;118;122	ENSP00000362814:V127M;ENSP00000444307:V122M;ENSP00000362813:V118M;ENSP00000439048:V122M	ENSP00000362813:V118M	V	+	1	0	SERINC2	31670267	1.000000	0.71417	0.998000	0.56505	0.553000	0.35397	9.599000	0.98280	2.239000	0.73571	0.655000	0.94253	GTG		0.652	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		6	6	0	0	0	1	0	6	6				
ATP11A	23250	broad.mit.edu	37	13	113481174	113481174	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:113481174A>G	ENST00000487903.1	+	12	1278	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	ATP11A_ENST00000283558.8_Missense_Mutation_p.N397S|ATP11A_ENST00000375630.2_Missense_Mutation_p.N397S|ATP11A_ENST00000375645.3_Missense_Mutation_p.N397S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	397					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCTCTGGTGAACACGTCGGAC	0.527																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1189-1191)aAc>aGc		ATPase, class VI, type 11A							99.0	89.0	92.0					13																	113481174		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113481174A>G	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1190A>G	13.37:g.113481174A>G	ENSP00000420387:p.Asn397Ser					ATP11A_ENST00000375645.3_Missense_Mutation_p.N397S|ATP11A_ENST00000283558.8_Missense_Mutation_p.N397S|ATP11A_ENST00000375630.2_Missense_Mutation_p.N397S	p.N397S			P98196	AT11A_HUMAN			12	1278	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	397					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1190A>G	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.24|18.24	3.580650|3.580650	0.65992|0.65992	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.88354|.	-2.37;-2.37;-2.37;-2.37|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76969|0.76969	0.4062|0.4062	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.996;0.914|.	D;D;P|.	0.87578|.	0.998;0.937;0.889|.	T|T	0.78682|0.78682	-0.2109|-0.2109	10|5	0.87932|.	D|.	0|.	.|.	15.4301|15.4301	0.75087|0.75087	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	397;397;397|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	S|A	397|372	ENSP00000420387:N397S;ENSP00000364781:N397S;ENSP00000364796:N397S;ENSP00000283558:N397S|.	ENSP00000283558:N397S|.	N|T	+|+	2|1	0|0	ATP11A|ATP11A	112529175|112529175	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.055000|0.055000	0.15305|0.15305	8.940000|8.940000	0.92958|0.92958	2.052000|2.052000	0.61016|0.61016	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.527	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		13	42	0	0	0	1	0	13	42				
CABS1	85438	broad.mit.edu	37	4	71201726	71201726	+	Missense_Mutation	SNP	G	G	A	rs139939232		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr4:71201726G>A	ENST00000273936.5	+	1	1044	c.970G>A	c.(970-972)Gtt>Att	p.V324I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	324					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATATGACTTCGTTGTCCCTGC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21759	0.0		0.0	False		,,,				2504	0.001					ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(970-972)Gtt>Att		calcium-binding protein, spermatid-specific 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	108.0	98.0	102.0		970	-4.8	0.0	4	dbSNP_134	102	0,8600		0,0,4300	no	missense	CABS1	NM_033122.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	324/396	71201726	1,13005	2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201726G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.970G>A	4.37:g.71201726G>A	ENSP00000273936:p.Val324Ile						p.V324I	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	1029	+			324					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.970G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	4.865	0.160864	0.09287	2.27E-4	0.0	ENSG00000145309	ENST00000273936	T	0.23754	1.89	4.13	-4.75	0.03239	.	1.151220	0.06701	N	0.771370	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.34279	-0.9835	10	0.20046	T	0.44	-7.7287	7.1157	0.25414	0.6139:0.0:0.2572:0.1289	.	324	Q96KC9	CABS1_HUMAN	I	324	ENSP00000273936:V324I	ENSP00000273936:V324I	V	+	1	0	CABS1	71236315	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.330000	0.07925	-1.286000	0.02384	-0.793000	0.03317	GTT		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		18	53	0	0	0	1	0	18	53				
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587																																						ENST00000261654.5																			1	Substitution - Missense(1)	p.R150W(1)	endometrium(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(448-450)Cgg>Tgg		G protein-coupled receptor 133			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	91.0	93.0		448	4.2	0.3	12	dbSNP_134	93	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	150/875	131466566	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466566C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.448C>T	12.37:g.131466566C>T	ENSP00000261654:p.Arg150Trp					GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	p.R150W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	1007	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		150					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.448C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	14.51	2.558084	0.45590	2.27E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74002	-0.8;-0.8	4.23	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.082006	0.49916	D	0.000135	D	0.85225	0.5648	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.87761	0.2598	10	0.87932	D	0	.	16.0019	0.80301	0.0:1.0:0.0:0.0	.	182;150	B7ZLF7;Q6QNK2	.;GP133_HUMAN	W	150;182	ENSP00000261654:R150W;ENSP00000444425:R182W	ENSP00000261654:R150W	R	+	1	2	GPR133	130032519	0.972000	0.33761	0.270000	0.24601	0.246000	0.25737	2.616000	0.46376	2.055000	0.61198	0.558000	0.71614	CGG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		17	57	0	0	0	1	0	17	57				
MUC2	4583	broad.mit.edu	37	11	1081707	1081707	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:1081707G>A	ENST00000441003.2	+	13	1662	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	MUC2_ENST00000359061.5_Silent_p.L545L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	545	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAGCGGGCTGGTGGAGGCCA	0.632																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1633-1635)ctG>ctA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						25.0	29.0	28.0					11																	1081707		1971	4157	6128	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081707G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1635G>A	11.37:g.1081707G>A						MUC2_ENST00000359061.5_Silent_p.L545L	p.L545L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1662	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	545			VWFD 2.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1635G>A																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		11	20	0	0	0	1	0	11	20				
DOCK2	1794	broad.mit.edu	37	5	169484642	169484642	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:169484642G>A	ENST00000256935.8	+	44	4519	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R972H|DOCK2_ENST00000540750.1_Missense_Mutation_p.R541H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1480	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATCCTGCGCTGGTTTGAG	0.607																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4438-4440)cGc>cAc		dedicator of cytokinesis 2							115.0	93.0	100.0					5																	169484642		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169484642G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4439G>A	5.37:g.169484642G>A	ENSP00000256935:p.Arg1480His					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R972H|DOCK2_ENST00000540750.1_Missense_Mutation_p.R541H	p.R1480H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		44	4519	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1480			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4439G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732599	0.96856	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.19806	2.12;2.12;2.12	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.69745	-0.5062	10	0.87932	D	0	.	19.3254	0.94260	0.0:0.0:1.0:0.0	.	972;36;1480	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	H	1480;972;541	ENSP00000256935:R1480H;ENSP00000429283:R972H;ENSP00000438827:R541H	ENSP00000256935:R1480H	R	+	2	0	DOCK2	169417220	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.979000	0.88103	2.556000	0.86216	0.655000	0.94253	CGC		0.607	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		11	26	0	0	0	1	0	11	26				
DBH	1621	broad.mit.edu	37	9	136508598	136508598	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:136508598G>A	ENST00000393056.2	+	4	820	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	270					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTTCCAGTGCGCCCCCGAGAT	0.662																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(808-810)Gcc>Acc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						79.0	77.0	78.0					9																	136508598		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508598G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.808G>A	9.37:g.136508598G>A	ENSP00000376776:p.Ala270Thr						p.A270T	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	820	+			270					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.808G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	3.229	-0.157890	0.06544	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.28666	1.6;1.6	4.9	-0.282	0.12878	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.481294	0.24825	N	0.035296	T	0.15392	0.0371	N	0.20685	0.6	0.09310	N	1	B	0.24483	0.104	B	0.19391	0.025	T	0.14282	-1.0478	10	0.33940	T	0.23	-12.7422	6.4904	0.22113	0.3589:0.1165:0.5246:0.0	.	270	P09172	DOPO_HUMAN	T	270;207;207	ENSP00000376776:A270T;ENSP00000263611:A207T	ENSP00000263611:A207T	A	+	1	0	DBH	135498419	0.005000	0.15991	0.006000	0.13384	0.020000	0.10135	0.193000	0.17116	-0.387000	0.07809	-1.172000	0.01736	GCC		0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		16	46	0	0	0	1	0	16	46				
UGT1A5	54579	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:234621899G>A	ENST00000373414.3	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_ENST00000608381.1_Missense_Mutation_p.E88K|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	88						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCCAGGACGAATTTGATCG	0.428																																						ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(262-264)Gaa>Aaa									111.0	106.0	108.0					2																	234621899		2203	4300	6503	SO:0001583	missense	0							g.chr2:234621899G>A	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.262G>A	2.37:g.234621899G>A	ENSP00000362513:p.Glu88Lys					UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	p.E88K	NM_019078.1	NP_061951.1				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	262	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.262G>A	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321356	0.41096	.	.	ENSG00000240224	ENST00000373414	T	0.63913	-0.07	4.83	2.92	0.33932	.	0.654160	0.15951	N	0.236703	T	0.69314	0.3097	M	0.92077	3.27	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.24269	0.052;0.052	T	0.64956	-0.6285	10	0.52906	T	0.07	.	11.535	0.50633	0.0:0.135:0.7246:0.1404	.	88;88	Q5DSZ9;P35504	.;UD15_HUMAN	K	88	ENSP00000362513:E88K	ENSP00000362513:E88K	E	+	1	0	UGT1A5	234286638	0.002000	0.14202	0.030000	0.17652	0.003000	0.03518	0.948000	0.29096	1.043000	0.40175	-0.330000	0.08379	GAA		0.428	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		4	143	0	0	0	1	0	4	143				
BBS9	27241	broad.mit.edu	37	7	33407399	33407399	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:33407399G>A	ENST00000242067.6	+	17	2235	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	BBS9_ENST00000396127.2_Missense_Mutation_p.D537N|BBS9_ENST00000350941.3_Missense_Mutation_p.D532N|BBS9_ENST00000355070.2_Missense_Mutation_p.D567N|BBS9_ENST00000354265.4_Missense_Mutation_p.D537N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	572					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAGTCAGATGATGATCAGGT	0.373									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(1714-1716)Gat>Aat		Bardet-Biedl syndrome 9							225.0	208.0	214.0					7																	33407399		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33407399G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1714G>A	7.37:g.33407399G>A	ENSP00000242067:p.Asp572Asn					BBS9_ENST00000355070.2_Missense_Mutation_p.D567N|BBS9_ENST00000396127.2_Missense_Mutation_p.D537N|BBS9_ENST00000354265.4_Missense_Mutation_p.D537N|BBS9_ENST00000350941.3_Missense_Mutation_p.D532N	p.D572N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		17	2235	+			572					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1714G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014233	0.35511	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.55	5.55	0.83447	.	0.175473	0.48767	D	0.000161	T	0.11707	0.0285	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.17038	0.009;0.004;0.009;0.004;0.02	B;B;B;B;B	0.23852	0.03;0.03;0.03;0.03;0.049	T	0.11792	-1.0573	10	0.36615	T	0.2	-20.0235	19.0936	0.93240	0.0:0.0:1.0:0.0	.	572;532;567;537;572	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	N	572;532;537;567;537;572	ENSP00000242067:D572N;ENSP00000313122:D532N;ENSP00000379433:D537N;ENSP00000347182:D567N;ENSP00000346214:D537N	ENSP00000242067:D572N	D	+	1	0	BBS9	33373924	1.000000	0.71417	0.993000	0.49108	0.937000	0.57800	5.201000	0.65163	2.607000	0.88179	0.655000	0.94253	GAT		0.373	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			22	124	0	0	0	1	0	22	124				
RAD51AP2	729475	broad.mit.edu	37	2	17698258	17698258	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:17698258C>T	ENST00000399080.2	-	1	1448	c.1425G>A	c.(1423-1425)acG>acA	p.T475T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	475										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAAACAGTCGTTATTAAAG	0.343																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1423-1425)acG>acA		RAD51 associated protein 2							79.0	72.0	74.0					2																	17698258		1825	4076	5901	SO:0001819	synonymous_variant	729475							g.chr2:17698258C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1425G>A	2.37:g.17698258C>T							p.T475T	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1448	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		475						Silent	SNP	ENST00000399080.2	37	c.1425G>A	CCDS42656.1																																																																																				0.343	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		14	50	0	0	0	1	0	14	50				
MYO9A	4649	broad.mit.edu	37	15	72338854	72338854	+	Silent	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:72338854T>C	ENST00000356056.5	-	2	523	c.51A>G	c.(49-51)acA>acG	p.T17T	MYO9A_ENST00000444904.1_Silent_p.T17T|MYO9A_ENST00000564571.1_Silent_p.T17T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000424560.1_Silent_p.T17T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	17	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATCCGTAATGTATGTTCAT	0.408																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(49-51)acA>acG		myosin IXA							142.0	141.0	141.0					15																	72338854		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338854T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.51A>G	15.37:g.72338854T>C						MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Silent_p.T17T|MYO9A_ENST00000444904.1_Silent_p.T17T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.T17T	p.T17T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	523	-			17			Ras-associating.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.51A>G	CCDS10239.1																																																																																				0.408	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	129	0	0	0	1	0	20	129				
VIT	5212	broad.mit.edu	37	2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A	rs368417581		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:37041349G>A	ENST00000389975.3	+	15	2184	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000379242.3_Missense_Mutation_p.V643I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1927-1929)Gtt>Att		vitrin		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	115.0	96.0	102.0		1882,1819,1816,1927	-1.6	0.0	2		102	0,8600		0,0,4300	no	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	29,29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign,benign	628/679,607/658,606/657,643/694	37041349	4,13002	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37041349G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1882G>A	2.37:g.37041349G>A	ENSP00000374625:p.Val628Ile					VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000389975.3_Missense_Mutation_p.V628I	p.V643I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			16	2229	+		all_hematologic(82;0.248)	628			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1927G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	6.727	0.502829	0.12822	9.08E-4	0.0	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.52	-1.62	0.08372	von Willebrand factor, type A (3);	0.416537	0.26677	N	0.023070	T	0.56819	0.2011	N	0.16201	0.385	0.09310	N	1	B;B;B;B	0.15141	0.008;0.002;0.008;0.012	B;B;B;B	0.12156	0.007;0.004;0.007;0.004	T	0.42649	-0.9439	10	0.25106	T	0.35	-3.4962	11.85	0.52405	0.5796:0.0:0.4204:0.0	.	607;606;628;643	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	643;628;297;580;606;607	ENSP00000368544:V643I;ENSP00000374625:V628I;ENSP00000417874:V297I;ENSP00000384154:V580I;ENSP00000368543:V606I;ENSP00000385658:V607I	ENSP00000368543:V606I	V	+	1	0	VIT	36894853	0.704000	0.27836	0.000000	0.03702	0.504000	0.33889	1.206000	0.32321	-0.198000	0.10333	0.655000	0.94253	GTT		0.512	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				13	30	0	0	0	1	0	13	30				
FLJ33360	401172	broad.mit.edu	37	5	6337339	6337339	+	lincRNA	SNP	C	C	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:6337339C>A	ENST00000507444.1	-	0	66					NR_028351.1																						AGCAGGGATACTTTTTACAGC	0.542																																						ENST00000507444.1																			0																				137.0	126.0	130.0					5																	6337339		1956	4145	6101			0							g.chr5:6337339C>A																													5.37:g.6337339C>A								NR_028351.1						0	66	-									RNA	SNP	ENST00000507444.1	37																																																																																						0.542	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			17	67	1	0	3.8784e-16	1	4.20616e-16	17	67				
ZBED9	114821	broad.mit.edu	37	6	28543532	28543532	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28543532C>G	ENST00000452236.2	-	3	1567	c.950G>C	c.(949-951)aGc>aCc	p.S317T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGTCCAATGCTGAGATGTGT	0.378																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(949-951)aGc>aCc		SCAN domain containing 3							269.0	235.0	246.0					6																	28543532		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543532C>G																												ENST00000452236.2:c.950G>C	6.37:g.28543532C>G	ENSP00000395259:p.Ser317Thr						p.S317T	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1567	-			317						Missense_Mutation	SNP	ENST00000452236.2	37	c.950G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755408	0.49362	.	.	ENSG00000232040	ENST00000452236	T	0.01455	4.87	3.44	2.56	0.30785	.	.	.	.	.	T	0.01156	0.0038	L	0.44542	1.39	0.21782	N	0.999548	D	0.58268	0.982	P	0.48425	0.577	T	0.53535	-0.8425	9	0.66056	D	0.02	.	5.9669	0.19330	0.0:0.8592:0.0:0.1408	.	317	Q6R2W3	SCND3_HUMAN	T	317	ENSP00000395259:S317T	ENSP00000395259:S317T	S	-	2	0	SCAND3	28651511	0.974000	0.33945	1.000000	0.80357	0.996000	0.88848	0.422000	0.21296	1.930000	0.55929	0.650000	0.86243	AGC		0.378	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			53	170	0	0	0	1	0	53	170				
IGF2BP1	10642	broad.mit.edu	37	17	47119680	47119680	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:47119680G>A	ENST00000290341.3	+	9	1352	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E201K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	340	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGCAGGGCCGAGCAGGAAAT	0.512																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1018-1020)Gag>Aag		insulin-like growth factor 2 mRNA binding protein 1							116.0	115.0	115.0					17																	47119680		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47119680G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1018G>A	17.37:g.47119680G>A	ENSP00000290341:p.Glu340Lys					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E201K	p.E340K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			9	1352	+			340			KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1018G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.920483	0.97105	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.24908	1.83;1.83	5.59	5.59	0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.968;1.0	D;D	0.91635	0.931;0.999	T	0.31392	-0.9945	10	0.06891	T	0.86	-34.5171	19.5457	0.95295	0.0:0.0:1.0:0.0	.	201;340	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	340;201	ENSP00000290341:E340K;ENSP00000389135:E201K	ENSP00000290341:E340K	E	+	1	0	IGF2BP1	44474679	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.696000	0.98695	2.763000	0.94921	0.655000	0.94253	GAG		0.512	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		20	69	0	0	0	1	0	20	69				
WDR90	197335	broad.mit.edu	37	16	705313	705313	+	Silent	SNP	G	G	A	rs375470273		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:705313G>A	ENST00000293879.4	+	15	1563	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.A521A			Q96KV7	WDR90_HUMAN	WD repeat domain 90	521										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCAGGATGGCGTCGTGCGGGC	0.697																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1561-1563)gcG>gcA		WD repeat domain 90		G		0,4386		0,0,2193	22.0	31.0	28.0		1563	-9.3	0.0	16		28	2,8566		0,2,4282	no	coding-synonymous	WDR90	NM_145294.4		0,2,6475	AA,AG,GG		0.0233,0.0,0.0154		521/1749	705313	2,12952	2193	4284	6477	SO:0001819	synonymous_variant	197335							g.chr16:705313G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1563G>A	16.37:g.705313G>A						LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.A521A	p.A521A	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			15	1655	+		Hepatocellular(780;0.0218)	521					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1563G>A	CCDS42092.1																																																																																				0.697	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		9	26	0	0	0	1	0	9	26				
SERPING1	710	broad.mit.edu	37	11	57373887	57373887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:57373887G>A	ENST00000278407.4	+	6	1123	c.896G>A	c.(895-897)tGg>tAg	p.W299*	SERPING1_ENST00000403558.1_Nonsense_Mutation_p.W342*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.W304*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.W247*|SERPING1_ENST00000340687.6_Nonsense_Mutation_p.W299*	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	299			W -> R (in HAE; dbSNP:rs281875173). {ECO:0000269|PubMed:22994404}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTAGCCAAGTGGAAGACAACA	0.443																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27	GRCh37	CM083130	SERPING1	M		c.(1024-1026)tGg>tAg		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							94.0	96.0	95.0					11																	57373887		2201	4296	6497	SO:0001587	stop_gained	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373887G>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.896G>A	11.37:g.57373887G>A	ENSP00000278407:p.Trp299*					SERPING1_ENST00000340687.6_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.W247*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.W304*	p.W342*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			5	1391	+			299					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Nonsense_Mutation	SNP	ENST00000278407.4	37	c.1025G>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	38	6.814891	0.97857	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	.	.	.	5.27	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1019	0.48179	0.0877:0.0:0.9123:0.0	.	.	.	.	X	299;299;304;247;342	.	ENSP00000278407:W299X	W	+	2	0	SERPING1	57130463	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.377000	0.66184	1.234000	0.43709	0.650000	0.86243	TGG		0.443	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		4	101	0	0	0	1	0	4	101				
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1043	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		10	46	0	0	0	1	0	10	46				
MAG	4099	broad.mit.edu	37	19	35791251	35791251	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:35791251G>A	ENST00000392213.3	+	6	1073	c.914G>A	c.(913-915)tGc>tAc	p.C305Y	MAG_ENST00000537831.2_Missense_Mutation_p.C280Y|MAG_ENST00000361922.4_Missense_Mutation_p.C305Y	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	305	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCTATGCCTGCCTGGCCGAG	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(913-915)tGc>tAc		myelin associated glycoprotein							25.0	26.0	26.0					19																	35791251		2199	4295	6494	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35791251G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.914G>A	19.37:g.35791251G>A	ENSP00000376048:p.Cys305Tyr					MAG_ENST00000537831.2_Missense_Mutation_p.C280Y|MAG_ENST00000392213.3_Missense_Mutation_p.C305Y	p.C305Y	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1064	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	305			Ig-like C2-type 2.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.914G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.353648	0.41700	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	D;D;D	0.85339	-1.97;-1.97;-1.97	3.73	2.69	0.31865	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.094278	0.64402	D	0.000004	D	0.94608	0.8262	H	0.99058	4.415	0.53688	D	0.999974	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.951;0.994;0.99	D	0.93506	0.6849	10	0.87932	D	0	.	8.4875	0.33080	0.1173:0.0:0.8827:0.0	.	342;305;305	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	Y	342;305;305;280	ENSP00000355234:C305Y;ENSP00000376048:C305Y;ENSP00000440695:C280Y	ENSP00000262624:C342Y	C	+	2	0	MAG	40483091	1.000000	0.71417	0.968000	0.41197	0.123000	0.20343	8.013000	0.88655	0.778000	0.33520	0.298000	0.19748	TGC		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		11	23	0	0	0	1	0	11	23				
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GAAGTGTAACGTCAAGGCCAA	0.592																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1762-1764)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 5							39.0	39.0	39.0					12																	5155075		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155075G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1762G>A	12.37:g.5155075G>A	ENSP00000252321:p.Val588Ile						p.V588I	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1991	+			588					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1762G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561517	0.13498	.	.	ENSG00000130037	ENST00000252321	D	0.97279	-4.32	5.5	3.64	0.41730	.	0.104471	0.38492	U	0.001664	D	0.87665	0.6234	N	0.01352	-0.895	0.21445	N	0.999687	B	0.06786	0.001	B	0.04013	0.001	T	0.78513	-0.2175	10	0.24483	T	0.36	.	9.733	0.40372	0.2849:0.5814:0.1337:0.0	.	588	P22460	KCNA5_HUMAN	I	588	ENSP00000252321:V588I	ENSP00000252321:V588I	V	+	1	0	KCNA5	5025336	0.990000	0.36364	1.000000	0.80357	0.936000	0.57629	0.640000	0.24705	0.668000	0.31126	-0.311000	0.09066	GTC		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		10	22	0	0	0	1	0	10	22				
FCGBP	8857	broad.mit.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A	rs587708149	byFrequency	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.001					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4030-4032)aaC>aaT		Fc fragment of IgG binding protein							23.0	20.0	21.0					19																	40408807		2203	4294	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40408807G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4032C>T	19.37:g.40408807G>A							p.N1344N	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4039	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1344			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.4032C>T	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	30	0	0	0	1	0	13	30				
BMP10	27302	broad.mit.edu	37	2	69093101	69093101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:69093101G>A	ENST00000295379.1	-	2	1095	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	313					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTTCTGATTCGGGCAGTGGAG	0.527																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(937-939)Cga>Tga		bone morphogenetic protein 10							86.0	83.0	84.0					2																	69093101		2203	4300	6503	SO:0001587	stop_gained	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093101G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.937C>T	2.37:g.69093101G>A	ENSP00000295379:p.Arg313*						p.R313*	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1095	-			313					Q53R17|Q6NTE0	Nonsense_Mutation	SNP	ENST00000295379.1	37	c.937C>T	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	36	5.795495	0.96952	.	.	ENSG00000163217	ENST00000295379	.	.	.	6.07	3.18	0.36537	.	0.052876	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3823	0.49766	0.0:0.1227:0.6228:0.2545	.	.	.	.	X	313	.	ENSP00000295379:R313X	R	-	1	2	BMP10	68946605	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.406000	0.44557	0.386000	0.24997	0.655000	0.94253	CGA		0.527	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		11	41	0	0	0	1	0	11	41				
NDUFS1	4719	broad.mit.edu	37	2	207009618	207009618	+	Silent	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:207009618G>T	ENST00000233190.6	-	9	1136	c.870C>A	c.(868-870)acC>acA	p.T290T	NDUFS1_ENST00000440274.1_Silent_p.T254T|NDUFS1_ENST00000423725.1_Silent_p.T233T|NDUFS1_ENST00000455934.2_Silent_p.T304T|NDUFS1_ENST00000449699.1_Silent_p.T290T|NDUFS1_ENST00000457011.1_Silent_p.T174T|NDUFS1_ENST00000432169.1_Silent_p.T179T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	290	4Fe-4S Mo/W bis-MGD-type. {ECO:0000255|PROSITE-ProRule:PRU01004}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCATATACCTGGTTTTATCAG	0.299																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(868-870)acC>acA		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						129.0	109.0	116.0					2																	207009618		2203	4300	6503	SO:0001819	synonymous_variant	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207009618G>T		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.870C>A	2.37:g.207009618G>T						NDUFS1_ENST00000440274.1_Silent_p.T254T|NDUFS1_ENST00000432169.1_Silent_p.T179T|NDUFS1_ENST00000423725.1_Silent_p.T233T|NDUFS1_ENST00000457011.1_Silent_p.T174T|NDUFS1_ENST00000455934.2_Silent_p.T304T|NDUFS1_ENST00000449699.1_Silent_p.T290T	p.T290T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			9	1136	-			290					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	c.870C>A	CCDS2366.1																																																																																				0.299	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		16	57	1	0	1.99824e-07	1	2.137e-07	16	57				
FGF16	8823	broad.mit.edu	37	X	76711876	76711876	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chrX:76711876G>A	ENST00000439435.1	+	2	213	c.213G>A	c.(211-213)acG>acA	p.T71T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						ACAGTATTACGTGGCCCTGAA	0.463																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(211-213)acG>acA		fibroblast growth factor 16							96.0	91.0	93.0					X																	76711876		1903	4125	6028	SO:0001819	synonymous_variant	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711876G>A	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"""metacarpal 4-5 fusion"""	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.213G>A	X.37:g.76711876G>A							p.T71T			O43320	FGF16_HUMAN			2	213	+			0						Silent	SNP	ENST00000439435.1	37	c.213G>A																																																																																					0.463	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		20	19	0	0	0	1	0	20	19				
KL	9365	broad.mit.edu	37	13	33638052	33638052	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:33638052C>T	ENST00000380099.3	+	5	2776	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	923	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGCACAGCTCCGAGGTTTGGC	0.443																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2767-2769)cCg>cTg		klotho							154.0	153.0	154.0					13																	33638052		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638052C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2768C>T	13.37:g.33638052C>T	ENSP00000369442:p.Pro923Leu					KL_ENST00000487852.1_3'UTR	p.P923L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2776	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	923			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2768C>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473721	0.63737	.	.	ENSG00000133116	ENST00000380099	T	0.30981	1.51	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.45698	1.435	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	T	0.32025	-0.9922	10	0.39692	T	0.17	-25.9464	19.0196	0.92908	0.0:1.0:0.0:0.0	.	923	Q9UEF7	KLOT_HUMAN	L	923	ENSP00000369442:P923L	ENSP00000369442:P923L	P	+	2	0	KL	32536052	1.000000	0.71417	0.897000	0.35233	0.030000	0.12068	5.945000	0.70226	2.484000	0.83849	0.655000	0.94253	CCG		0.443	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			44	136	0	0	0	1	0	44	136				
LIN52	91750	broad.mit.edu	37	14	74665655	74665655	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr14:74665655A>G	ENST00000555028.1	+	6	493	c.326A>G	c.(325-327)aAt>aGt	p.N109S		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 DREAM MuvB core complex component	109					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	DRM complex (GO:0070176)|nucleoplasm (GO:0005654)				breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AAATTCCTCAATATTCTAGAG	0.458																																						ENST00000555028.1																			0				breast(1)|endometrium(2)|lung(2)	5						c.(325-327)aAt>aGt		lin-52 homolog (C. elegans)							86.0	85.0	85.0					14																	74665655		2203	4300	6503	SO:0001583	missense	91750							g.chr14:74665655A>G	AK023979	CCDS32120.1	14q24.2	2014-07-17	2014-07-17	2007-01-03	ENSG00000205659	ENSG00000205659			19856	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 46"", ""lin-52 homolog (C. elegans)"""	C14orf46		17075059, 21498570	Standard	NM_001024674		Approved		uc001xpp.2	Q52LA3	OTTHUMG00000171204	ENST00000555028.1:c.326A>G	14.37:g.74665655A>G	ENSP00000451812:p.Asn109Ser						p.N109S	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)	6	493	+			109						Missense_Mutation	SNP	ENST00000555028.1	37	c.326A>G	CCDS32120.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715759	0.48622	.	.	ENSG00000205659	ENST00000555028;ENST00000381098;ENST00000554938	.	.	.	5.9	4.76	0.60689	.	0.122641	0.52532	D	0.000064	T	0.54565	0.1866	L	0.41492	1.28	0.48452	D	0.999656	B	0.22800	0.075	B	0.27076	0.076	T	0.52305	-0.8593	9	0.54805	T	0.06	-9.1246	11.8607	0.52465	0.9321:0.0:0.0679:0.0	.	109	Q52LA3	LIN52_HUMAN	S	141;109;87	.	ENSP00000370488:N109S	N	+	2	0	LIN52	73735408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.528000	0.90598	1.066000	0.40716	0.528000	0.53228	AAT		0.458	LIN52-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412316.2			16	22	0	0	0	1	0	16	22				
ADAMTS3	9508	broad.mit.edu	37	4	73148881	73148881	+	Missense_Mutation	SNP	G	G	A	rs374131974		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr4:73148881G>A	ENST00000286657.4	-	22	3626	c.3590C>T	c.(3589-3591)cCg>cTg	p.P1197L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1197					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTTGTCGGACGTCTGTT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3589-3591)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	142.0	130.0	134.0		3590	3.1	0.1	4		134	0,8600		0,0,4300	no	missense	ADAMTS3	NM_014243.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1197/1206	73148881	1,13005	2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73148881G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3590C>T	4.37:g.73148881G>A	ENSP00000286657:p.Pro1197Leu						p.P1197L	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3626	-			1197					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3590C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	3.457	-0.110830	0.06924	2.27E-4	0.0	ENSG00000156140	ENST00000286657	T	0.61392	0.11	5.78	3.14	0.36123	.	0.083360	0.47852	N	0.000205	T	0.49406	0.1555	L	0.53249	1.67	0.36817	D	0.886195	B	0.22211	0.066	B	0.11329	0.006	T	0.49390	-0.8945	10	0.44086	T	0.13	.	9.9303	0.41519	0.2674:0.0:0.7326:0.0	.	1197	O15072	ATS3_HUMAN	L	1197	ENSP00000286657:P1197L	ENSP00000286657:P1197L	P	-	2	0	ADAMTS3	73367745	0.951000	0.32395	0.137000	0.22149	0.063000	0.16089	1.758000	0.38410	0.370000	0.24538	0.591000	0.81541	CCG		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			4	141	0	0	0	1	0	4	141				
DMXL1	1657	broad.mit.edu	37	5	118484571	118484571	+	Missense_Mutation	SNP	A	A	G	rs541463868		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:118484571A>G	ENST00000311085.8	+	18	3129	c.3049A>G	c.(3049-3051)Att>Gtt	p.I1017V	DMXL1_ENST00000539542.1_Missense_Mutation_p.I1017V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1017										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAATGGAAAAATTGATCTTGC	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		20336	0.0		0.0	False		,,,				2504	0.001					ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3049-3051)Att>Gtt		Dmx-like 1							129.0	123.0	125.0					5																	118484571		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484571A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3049A>G	5.37:g.118484571A>G	ENSP00000309690:p.Ile1017Val					DMXL1_ENST00000539542.1_Missense_Mutation_p.I1017V	p.I1017V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3129	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1017						Missense_Mutation	SNP	ENST00000311085.8	37	c.3049A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	0.128	-1.117473	0.01799	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.28666	1.6;1.6	5.5	0.196	0.15159	.	0.744812	0.14111	N	0.340735	T	0.15652	0.0377	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.001	T	0.22695	-1.0209	10	0.29301	T	0.29	0.6886	6.0702	0.19885	0.5812:0.229:0.1898:0.0	.	1017;1017	F5H269;Q9Y485	.;DMXL1_HUMAN	V	1017	ENSP00000309690:I1017V;ENSP00000439479:I1017V	ENSP00000309690:I1017V	I	+	1	0	DMXL1	118512470	0.000000	0.05858	0.002000	0.10522	0.390000	0.30446	0.561000	0.23515	-0.115000	0.11915	0.533000	0.62120	ATT		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		22	95	0	0	0	1	0	22	95				
FBXO41	150726	broad.mit.edu	37	2	73490392	73490392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:73490392delC	ENST00000521871.1	-	9	2535	c.2120delG	c.(2119-2121)ggcfs	p.G707fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G707fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G768fs			Q8TF61	FBX41_HUMAN	F-box protein 41	707										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCAGCCTGCGCCCAGGGCCCA	0.612																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(2119-2121)gcfs		F-box protein 41							24.0	29.0	27.0					2																	73490392		1979	4136	6115	SO:0001589	frameshift_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73490392delC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2120delG	2.37:g.73490392delC	ENSP00000428646:p.Gly707fs					FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G707fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G768fs	p.G707fs			Q8TF61	FBX41_HUMAN			9	2535	-			707					G3V0Z7|Q2M1V8	Frame_Shift_Del	DEL	ENST00000521871.1	37	c.2120delG	CCDS46337.2																																																																																				0.612	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			2	4						2	4	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G	rs541695993	byFrequency	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cccfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs	p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512_2513	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		10	44						10	44	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		6	4						6	4	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)ttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3916	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		12	310						12	310	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(946-951)aafs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941638_48941641delTCTT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.948_951delTCTT	13.37:g.48941638_48941641delTCTT	ENSP00000267163:p.Asn316fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.NL316fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1086_1089	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	316					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.948_951delTCTT	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			12	76						12	76	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18863422	18863424	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:18863422_18863424delAAG	ENST00000446231.2	-	33	5429_5431	c.5017_5019delCTT	c.(5017-5019)cttdel	p.L1673del	SMG1_ENST00000389467.3_In_Frame_Del_p.L1673del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1673	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGCCTGTCCAAGAATACCATAT	0.443																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(5017-5019)del		SMG1 phosphatidylinositol 3-kinase-related kinase																																				SO:0001651	inframe_deletion	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18863422_18863424delAAG	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5017_5019delCTT	16.37:g.18863422_18863424delAAG	ENSP00000402515:p.Leu1673del					SMG1_ENST00000389467.3_In_Frame_Del_p.L1673del	p.L1673del			Q96Q15	SMG1_HUMAN			33	5429_5431	-			1673			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	In_Frame_Del	DEL	ENST00000446231.2	37	c.5017_5019delCTT	CCDS45430.1																																																																																				0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		18	47						18	47	---	---	---	---
AFMID	125061	broad.mit.edu	37	17	76198801	76198801	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:76198801delT	ENST00000327898.5	+	4	286	c.277delT	c.(277-279)ttcfs	p.F94fs	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Frame_Shift_Del_p.F59fs|AFMID_ENST00000409257.5_Frame_Shift_Del_p.F94fs					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TTTCTTCCTGTTCTTTCACGG	0.617																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(277-279)tcfs		arylformamidase							58.0	48.0	51.0					17																	76198801		2190	4274	6464	SO:0001589	frameshift_variant	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76198801delT	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.277delT	17.37:g.76198801delT	ENSP00000328938:p.Phe94fs					AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.F94fs|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Frame_Shift_Del_p.F59fs	p.F94fs	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		4	331	+			94						Frame_Shift_Del	DEL	ENST00000327898.5	37	c.277delT	CCDS45801.1																																																																																				0.617	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		2	4						2	4	---	---	---	---
