#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
C1orf116	79098	broad.mit.edu	37	1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:207195320C>T	ENST00000359470.5	-	4	2038	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	597						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G597R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TTCAACAGTCCCAGCTTCTTC	0.562																																						ENST00000359470.5																			1	Substitution - Missense(1)	p.G597R(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1789-1791)Gga>Aga		chromosome 1 open reading frame 116							110.0	103.0	105.0					1																	207195320		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195320C>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1789G>A	1.37:g.207195320C>T	ENSP00000352447:p.Gly597Arg					C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	p.G597R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	2038	-	Prostate(682;0.19)		597					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1789G>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087858	0.94100	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.68479	-0.33;-0.33	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82882	-0.0237	10	0.87932	D	0	-9.2918	18.2789	0.90092	0.0:1.0:0.0:0.0	.	597	Q9BW04	SARG_HUMAN	R	597;351	ENSP00000352447:G597R;ENSP00000436862:G351R	ENSP00000352447:G597R	G	-	1	0	C1orf116	205261943	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.574000	0.74014	2.561000	0.86390	0.655000	0.94253	GGA		0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		4	106	0	0	0	1	0	4	106				
TTN	7273	broad.mit.edu	37	2	179486462	179486462	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:179486462T>G	ENST00000591111.1	-	195	40390	c.40166A>C	c.(40165-40167)gAa>gCa	p.E13389A	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6157A|TTN_ENST00000359218.5_Missense_Mutation_p.E6090A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5965A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15030A|TTN_ENST00000342992.6_Missense_Mutation_p.E12462A			Q8WZ42	TITIN_HUMAN	titin	13389	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGACAGCTTCTTCTTCTGC	0.353																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45088-45090)gAa>gCa		titin							63.0	58.0	59.0					2																	179486462		1828	4087	5915	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486462T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40166A>C	2.37:g.179486462T>G	ENSP00000465570:p.Glu13389Ala					TTN_ENST00000591111.1_Missense_Mutation_p.E13389A|TTN_ENST00000359218.5_Missense_Mutation_p.E6090A|TTN_ENST00000342175.6_Missense_Mutation_p.E6157A|TTN_ENST00000342992.6_Missense_Mutation_p.E12462A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5965A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.E15030A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45313	-			13389			Fibronectin type-III 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45089A>C		.	.	.	.	.	.	.	.	.	.	T	14.53	2.562605	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.96	5.96	0.96718	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85150	0.5631	M	0.69185	2.1	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.77004	0.989;0.989;0.989;0.989	D	0.86544	0.1830	9	0.87932	D	0	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	5965;6090;6157;13389	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	12462;5965;6157;6090;5965	ENSP00000343764:E12462A;ENSP00000434586:E5965A;ENSP00000340554:E6157A;ENSP00000352154:E6090A	ENSP00000340554:E6157A	E	-	2	0	TTN	179194707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.279000	0.76181	0.533000	0.62120	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	66	0	0	0	1	0	9	66				
OR5B12	390191	broad.mit.edu	37	11	58206811	58206811	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:58206811C>A	ENST00000302572.2	-	1	835	c.814G>T	c.(814-816)Gca>Tca	p.A272S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A272S(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCCATTTTGTCT	0.433																																						ENST00000302572.2																			1	Substitution - Missense(1)	p.A272S(1)	prostate(1)	large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(814-816)Gca>Tca		olfactory receptor, family 5, subfamily B, member 12							92.0	85.0	88.0					11																	58206811		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206811C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.814G>T	11.37:g.58206811C>A	ENSP00000306657:p.Ala272Ser						p.A272S	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	835	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	272					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.814G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716759	0.30413	.	.	ENSG00000172362	ENST00000302572	T	0.38240	1.15	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000196	T	0.36608	0.0973	L	0.58583	1.82	0.09310	N	1	B	0.31790	0.34	B	0.37943	0.261	T	0.20974	-1.0259	10	0.27785	T	0.31	-12.2744	11.1101	0.48228	0.1852:0.8148:0.0:0.0	.	272	Q96R08	OR5BC_HUMAN	S	272	ENSP00000306657:A272S	ENSP00000306657:A272S	A	-	1	0	OR5B12	57963387	0.000000	0.05858	0.991000	0.47740	0.888000	0.51559	-0.106000	0.10890	2.378000	0.81104	0.455000	0.32223	GCA		0.433	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		6	107	1	0	0.217242	1	0.227712	6	107				
SMARCA1	6594	broad.mit.edu	37	X	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:128599698G>T	ENST00000371122.4	-	23	2958	c.2829C>A	c.(2827-2829)taC>taA	p.Y943*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	943					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Y943*(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATGGAGCCTTGTATCTTGCAA	0.328																																						ENST00000371122.4																			2	Substitution - Nonsense(2)	p.Y943*(2)	prostate(2)	biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2827-2829)taC>taA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							97.0	82.0	87.0					X																	128599698		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599698G>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2829C>A	X.37:g.128599698G>T	ENSP00000360163:p.Tyr943*					SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	p.Y943*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	2958	-			943					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.2829C>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723834	0.98929	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.64	3.86	0.44501	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5966	9.2063	0.37291	0.2907:0.0:0.7093:0.0	.	.	.	.	X	931;931;943;922	.	ENSP00000360162:Y931X	Y	-	3	2	SMARCA1	128427379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.675000	0.37555	1.132000	0.42129	0.544000	0.68410	TAC		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		69	20	1	0	2.79145e-41	1	3.23808e-41	69	20				
SLC27A6	28965	broad.mit.edu	37	5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:128362928T>A	ENST00000262462.4	+	7	2368	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	453					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.F453Y(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATGTTTTTAAGAAGGGA	0.393																																						ENST00000262462.4																			1	Substitution - Missense(1)	p.F453Y(1)	prostate(1)	NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1357-1359)tTt>tAt		solute carrier family 27 (fatty acid transporter), member 6							122.0	116.0	118.0					5																	128362928		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128362928T>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1358T>A	5.37:g.128362928T>A	ENSP00000262462:p.Phe453Tyr					SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y	p.F453Y			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	2368	+		all_cancers(142;0.0483)|Prostate(80;0.055)	453					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1358T>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206002	0.79127	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.60672	0.17;0.17;0.17	4.53	4.53	0.55603	AMP-dependent synthetase/ligase (1);	0.096470	0.64402	D	0.000001	T	0.80788	0.4690	M	0.92367	3.3	0.49213	D	0.999764	D	0.71674	0.998	D	0.77004	0.989	D	0.85814	0.1381	9	.	.	.	-11.6236	14.928	0.70893	0.0:0.0:0.0:1.0	.	453	Q9Y2P4	S27A6_HUMAN	Y	453	ENSP00000262462:F453Y;ENSP00000378684:F453Y;ENSP00000421024:F453Y	.	F	+	2	0	SLC27A6	128390827	1.000000	0.71417	0.963000	0.40424	0.725000	0.41563	7.457000	0.80775	2.267000	0.75376	0.383000	0.25322	TTT		0.393	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		96	222	0	0	0	1	0	96	222				
GAD2	2572	broad.mit.edu	37	10	26581402	26581402	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:26581402C>T	ENST00000376261.3	+	14	1898	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	GAD2_ENST00000259271.3_Silent_p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	465					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.T465T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGGGACTACCGGGTTTGAAG	0.468																																						ENST00000376261.3																			1	Substitution - coding silent(1)	p.T465T(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1393-1395)acC>acT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						110.0	101.0	104.0					10																	26581402		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581402C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1395C>T	10.37:g.26581402C>T						GAD2_ENST00000259271.3_Silent_p.T465T	p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			14	1898	+			465					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1395C>T	CCDS7149.1																																																																																				0.468	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		34	82	0	0	0	1	0	34	82				
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R112L(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111.0	106.0	107.0					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	11.37:g.36595189G>A	ENSP00000299440:p.Arg112His						p.R112H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	149	0	0	0	1	0	4	149				
POLE	5426	broad.mit.edu	37	12	133249852	133249852	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:133249852C>T	ENST00000320574.5	-	14	1414	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	POLE_ENST00000535270.1_Silent_p.T430T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.T457T(3)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACACAGAATACGTGGCCAGAG	0.527								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			3	Substitution - coding silent(3)	p.T457T(3)	prostate(3)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1369-1371)acG>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							175.0	148.0	157.0					12																	133249852		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133249852C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1371G>A	12.37:g.133249852C>T						POLE_ENST00000535270.1_Silent_p.T430T	p.T457T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	14	1414	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	457					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.1371G>A	CCDS9278.1																																																																																				0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		45	76	0	0	0	1	0	45	76				
GDF5OS	554250	broad.mit.edu	37	20	34022673	34022673	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:34022673G>A	ENST00000374375.1	+	2	1159	c.717G>A	c.(715-717)ccG>ccA	p.P239P	GDF5_ENST00000374372.1_Intron|GDF5_ENST00000374369.3_Intron			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	239						mitochondrion (GO:0005739)		p.P239P(1)		cervix(1)|endometrium(4)|lung(4)	9						CTCTCTCCCCGTCCAGAGAGC	0.542																																						ENST00000374375.1																			1	Substitution - coding silent(1)	p.P239P(1)	prostate(1)	cervix(1)|endometrium(4)|lung(4)	9						c.(715-717)ccG>ccA																																						SO:0001819	synonymous_variant	0							g.chr20:34022673G>A	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.717G>A	20.37:g.34022673G>A						GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron	p.P239P							2	1159	+								A6PVI8	Silent	SNP	ENST00000374375.1	37	c.717G>A																																																																																					0.542	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3			3	43	0	0	0	1	0	3	43				
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74.0	81.0	78.0					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		13	101	0	0	0	1	0	13	101				
IGHM	3507	broad.mit.edu	37	14	106321713	106321713	+	RNA	SNP	G	G	A	rs540744199		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:106321713G>A	ENST00000390559.2	-	0	520				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.1_ENST00000581354.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTTGTAGGTCGTGGGCCCAGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		11884	0.001		0.0	False		,,,				2504	0.0					ENST00000390559.2																			0																				70.0	72.0	71.0					14																	106321713		2182	4250	6432			0							g.chr14:106321713G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321713G>A														0	520	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.637	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		6	40	0	0	0	1	0	6	40				
USP15	9958	broad.mit.edu	37	12	62784708	62784708	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:62784708C>A	ENST00000280377.5	+	15	1967	c.1909C>A	c.(1909-1911)Caa>Aaa	p.Q637K	USP15_ENST00000353364.3_Missense_Mutation_p.Q608K|USP15_ENST00000393654.3_Missense_Mutation_p.Q612K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	637	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q608K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGTAAGGACCAAAATATTAA	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			2	Substitution - Missense(2)	p.Q608K(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1909-1911)Caa>Aaa		ubiquitin specific peptidase 15							72.0	70.0	71.0					12																	62784708		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62784708C>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1909C>A	12.37:g.62784708C>A	ENSP00000280377:p.Gln637Lys					USP15_ENST00000353364.3_Missense_Mutation_p.Q608K|USP15_ENST00000393654.3_Missense_Mutation_p.Q612K	p.Q637K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	15	1967	+			637					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1909C>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	5.020	0.189294	0.09547	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.17854	2.26;2.25;2.26	5.7	5.7	0.88788	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.394679	0.27778	N	0.017894	T	0.11024	0.0269	N	0.12471	0.22	0.36521	D	0.870184	B;B	0.13594	0.001;0.008	B;B	0.19666	0.007;0.026	T	0.25745	-1.0123	9	.	.	.	-11.7692	15.4349	0.75137	0.1395:0.8605:0.0:0.0	.	637;608	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	608;637;612	ENSP00000258123:Q608K;ENSP00000280377:Q637K;ENSP00000377264:Q612K	.	Q	+	1	0	USP15	61070975	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.749000	0.55150	2.690000	0.91761	0.460000	0.39030	CAA		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		3	104	1	0	1	1	1	3	104				
OR10T2	128360	broad.mit.edu	37	1	158368837	158368837	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158368837C>T	ENST00000334438.1	-	1	419	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACCCCAGCCTTTTGTTTA	0.473																																						ENST00000334438.1																			1	Substitution - coding silent(1)	p.R140R(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(418-420)agG>agA		olfactory receptor, family 10, subfamily T, member 2							103.0	102.0	102.0					1																	158368837		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368837C>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.420G>A	1.37:g.158368837C>T							p.R140R	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	419	-	all_hematologic(112;0.0378)		140					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.420G>A	CCDS30895.1																																																																																				0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		7	202	0	0	0	1	0	7	202				
PTPRH	5794	broad.mit.edu	37	19	55707952	55707952	+	Missense_Mutation	SNP	G	G	A	rs138080428		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:55707952G>A	ENST00000376350.3	-	10	2217	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T554M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	732	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T732M(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGATGGTCGTGATGGTGGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15476	0.0		0.001	False		,,,				2504	0.0					ENST00000376350.3																			2	Substitution - Missense(2)	p.T732M(2)	prostate(2)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2194-2196)aCg>aTg		protein tyrosine phosphatase, receptor type, H		G	MET/THR,MET/THR	0,4406		0,0,2203	68.0	59.0	62.0		1661,2195	-5.2	0.0	19	dbSNP_134	62	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	81,81	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	possibly-damaging,possibly-damaging	554/938,732/1116	55707952	8,12998	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55707952G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2195C>T	19.37:g.55707952G>A	ENSP00000365528:p.Thr732Met					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T554M	p.T732M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	10	2217	-		Renal(1328;0.245)	732			Fibronectin type-III 8.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2195C>T	CCDS33110.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.29	1.310415	0.23821	0.0	9.3E-4	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06933	3.24;4.23	5.16	-5.22	0.02806	Fibronectin, type III (1);	0.203937	0.24671	N	0.036546	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	P;P;P	0.46706	0.547;0.676;0.883	B;B;B	0.23574	0.021;0.047;0.047	T	0.50294	-0.8845	10	0.34782	T	0.22	.	0.3397	0.00331	0.2433:0.2653:0.243:0.2484	.	554;554;732	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	M	732;554	ENSP00000365528:T732M;ENSP00000263434:T554M	ENSP00000263434:T554M	T	-	2	0	PTPRH	60399764	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.415000	0.07106	-0.541000	0.06257	-0.143000	0.13931	ACG		0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			44	53	0	0	0	1	0	44	53				
DNAH3	55567	broad.mit.edu	37	16	21033374	21033374	+	Missense_Mutation	SNP	G	G	A	rs146618931		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:21033374G>A	ENST00000261383.3	-	40	5694	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1899	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1899C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATGAAGGCGACCAAATTCC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18769	0.0		0.001	False		,,,				2504	0.0					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1899C(2)	prostate(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5695-5697)Cgc>Tgc		dynein, axonemal, heavy chain 3							119.0	96.0	104.0					16																	21033374		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21033374G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5695C>T	16.37:g.21033374G>A	ENSP00000261383:p.Arg1899Cys					DNAH3_ENST00000415178.1_Intron	p.R1899C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	40	5694	-			1899			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5695C>T	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.78	2.338637	0.41398	.	.	ENSG00000158486	ENST00000261383	T	0.28454	1.61	4.92	4.92	0.64577	.	0.415829	0.25094	N	0.033196	T	0.50086	0.1595	H	0.96365	3.81	0.53688	D	0.999977	B	0.21821	0.061	B	0.12156	0.007	T	0.61574	-0.7035	10	0.87932	D	0	.	15.2551	0.73579	0.0:0.1407:0.8593:0.0	.	1899	Q8TD57	DYH3_HUMAN	C	1899	ENSP00000261383:R1899C	ENSP00000261383:R1899C	R	-	1	0	DNAH3	20940875	0.996000	0.38824	0.184000	0.23157	0.985000	0.73830	3.790000	0.55461	2.265000	0.75225	0.462000	0.41574	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	36	0	0	0	1	0	20	36				
FRY	10129	broad.mit.edu	37	13	32759237	32759237	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr13:32759237C>T	ENST00000380250.3	+	26	3767	c.3271C>T	c.(3271-3273)Cgg>Tgg	p.R1091W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1091						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R1091W(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAAAGATATCCGGGCACATTT	0.428																																						ENST00000380250.3																			1	Substitution - Missense(1)	p.R1091W(1)	prostate(1)	NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3271-3273)Cgg>Tgg		furry homolog (Drosophila)							87.0	84.0	85.0					13																	32759237		1897	4106	6003	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759237C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3271C>T	13.37:g.32759237C>T	ENSP00000369600:p.Arg1091Trp						p.R1091W	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3767	+		Lung SC(185;0.0271)	1091					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3271C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935068	0.73442	.	.	ENSG00000073910	ENST00000380250	T	0.54279	0.58	5.37	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73069	-0.4099	10	0.87932	D	0	.	13.7808	0.63081	0.224:0.776:0.0:0.0	.	1091	Q5TBA9	FRY_HUMAN	W	1091	ENSP00000369600:R1091W	ENSP00000369600:R1091W	R	+	1	2	FRY	31657237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.915000	0.39976	2.675000	0.91044	0.650000	0.86243	CGG		0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		14	200	0	0	0	1	0	14	200				
WBSCR17	64409	broad.mit.edu	37	7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:71130409G>A	ENST00000333538.5	+	7	1728	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	365	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G365E(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCTCTGTGGGGGCAGCATG	0.512																																						ENST00000333538.5																			1	Substitution - Missense(1)	p.G365E(1)	prostate(1)	NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1093-1095)gGg>gAg		Williams-Beuren syndrome chromosome region 17							99.0	103.0	101.0					7																	71130409		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130409G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1094G>A	7.37:g.71130409G>A	ENSP00000329654:p.Gly365Glu					WBSCR17_ENST00000498380.2_3'UTR	p.G365E	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			7	1728	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	365			Catalytic subdomain B.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1094G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010652	0.93346	.	.	ENSG00000185274	ENST00000333538	T	0.75589	-0.95	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92439	0.5960	10	0.87932	D	0	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	365	Q6IS24	GLTL3_HUMAN	E	365	ENSP00000329654:G365E	ENSP00000329654:G365E	G	+	2	0	WBSCR17	70768345	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	GGG		0.512	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		15	212	0	0	0	1	0	15	212				
PROCR	10544	broad.mit.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T	rs200377875		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:33762727G>T	ENST00000216968.4	+	2	375	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	98					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R98L(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726																																						ENST00000216968.4																			2	Substitution - Missense(2)	p.R98L(2)	prostate(1)|kidney(1)	breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(292-294)cGc>cTc		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						20.0	17.0	18.0					20																	33762727		2194	4296	6490	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762727G>T	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.293G>T	20.37:g.33762727G>T	ENSP00000216968:p.Arg98Leu					EDEM2_ENST00000540582.1_Intron	p.R98L	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	375	+			98					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.293G>T	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.741327	0.89573	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82984	-1.67	5.22	-10.4	0.00318	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.402480	0.04770	N	0.427767	T	0.71837	0.3387	L	0.51422	1.61	0.09310	N	1	B	0.30179	0.271	B	0.28385	0.089	T	0.61227	-0.7105	10	0.56958	D	0.05	-6.7275	4.9914	0.14216	0.5133:0.0:0.1891:0.2976	.	98	Q9UNN8	EPCR_HUMAN	L	98	ENSP00000216968:R98L	ENSP00000216968:R98L	R	+	2	0	PROCR	33226388	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-3.074000	0.00617	-2.082000	0.00868	0.556000	0.70494	CGC		0.726	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			5	9	1	0	0.000602214	1	0.000663198	5	9				
PDZD2	23037	broad.mit.edu	37	5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:32087621G>A	ENST00000438447.1	+	20	4455	c.4067G>A	c.(4066-4068)gGt>gAt	p.G1356D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1356					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G1356D(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGCTCCAGGTAACCACAGT	0.597																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.G1356D(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(4066-4068)gGt>gAt		PDZ domain containing 2							35.0	38.0	37.0					5																	32087621		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087621G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4067G>A	5.37:g.32087621G>A	ENSP00000402033:p.Gly1356Asp					PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D	p.G1356D			O15018	PDZD2_HUMAN			20	4455	+			1356					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4067G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157316	0.38119	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05855	3.38;3.38	4.35	1.29	0.21616	.	0.782790	0.10883	N	0.623589	T	0.06416	0.0165	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.40175	-0.9577	10	0.25106	T	0.35	.	5.9566	0.19277	0.1061:0.379:0.5149:0.0	.	1356	O15018	PDZD2_HUMAN	D	1356;1157;1356	ENSP00000402033:G1356D;ENSP00000282493:G1356D	ENSP00000282493:G1356D	G	+	2	0	PDZD2	32123378	0.002000	0.14202	0.011000	0.14972	0.003000	0.03518	0.258000	0.18387	0.561000	0.29186	0.655000	0.94253	GGT		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	29	0	0	0	1	0	4	29				
ACSL6	23305	broad.mit.edu	37	5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:131308476G>A	ENST00000379240.1	-	13	1357	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379264.2_Missense_Mutation_p.R427W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	402					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1279-1281)Cgg>Tgg		acyl-CoA synthetase long-chain family member 6							95.0	95.0	95.0					5																	131308476		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131308476G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1204C>T	5.37:g.131308476G>A	ENSP00000368542:p.Arg402Trp					ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379240.1_Missense_Mutation_p.R402W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W	p.R427W	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1387	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	402					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1279C>T		.	.	.	.	.	.	.	.	.	.	G	17.95	3.513331	0.64522	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.143269	0.64402	D	0.000006	T	0.50633	0.1627	M	0.79693	2.465	0.48975	D	0.999731	P;D;D;P;D;D;D	0.64830	0.943;0.992;0.994;0.954;0.971;0.992;0.992	P;P;P;P;P;P;P	0.55011	0.655;0.655;0.67;0.766;0.54;0.655;0.655	T	0.51340	-0.8718	10	0.66056	D	0.02	.	20.6437	0.99549	0.0:0.0:1.0:0.0	.	402;417;392;402;327;427;427	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	W	402;427;417;327;327;427;413;402;311;402;382;402	ENSP00000368551:R402W;ENSP00000368566:R427W;ENSP00000368574:R417W;ENSP00000349608:R327W;ENSP00000368557:R327W;ENSP00000296869:R427W;ENSP00000368548:R413W;ENSP00000368546:R402W;ENSP00000445154:R311W;ENSP00000368542:R402W;ENSP00000413329:R382W;ENSP00000442124:R402W	ENSP00000296869:R427W	R	-	1	2	ACSL6	131336375	1.000000	0.71417	0.862000	0.33874	0.002000	0.02628	6.075000	0.71261	2.890000	0.99128	0.650000	0.86243	CGG		0.438	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		4	183	0	0	0	1	0	4	183				
B3GAT3	26229	broad.mit.edu	37	11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62389399G>T	ENST00000265471.5	-	1	248	c.21C>A	c.(19-21)aaC>aaA	p.N7K	B3GAT3_ENST00000531383.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	7					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.N7K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGAAACACGTTCTTCAGCT	0.726																																						ENST00000531383.1																			1	Substitution - Missense(1)	p.N7K(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(19-21)aaC>aaA		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							49.0	44.0	45.0					11																	62389399		2202	4296	6498	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389399G>T	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.21C>A	11.37:g.62389399G>T	ENSP00000265471:p.Asn7Lys					B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K|B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K	p.N7K			O94766	B3GA3_HUMAN			1	227	-			7					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.21C>A	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752473	0.49362	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.62941	0.01;-0.0;-0.01;0.8	4.79	1.93	0.25924	.	0.797441	0.11288	N	0.579609	T	0.44561	0.1299	N	0.19112	0.55	0.36354	D	0.860295	P;B	0.52842	0.956;0.066	P;B	0.46758	0.526;0.028	T	0.45308	-0.9270	10	0.07030	T	0.85	.	6.7369	0.23415	0.2858:0.0:0.7142:0.0	.	7;7	B7ZAB3;O94766	.;B3GA3_HUMAN	K	7	ENSP00000265471:N7K;ENSP00000431359:N7K;ENSP00000432474:N7K;ENSP00000432854:N7K	ENSP00000265471:N7K	N	-	3	2	B3GAT3	62145975	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.253000	0.18296	0.252000	0.21531	-0.266000	0.10368	AAC		0.726	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		9	19	1	0	6.40141e-05	1	7.14004e-05	9	19				
SFI1	9814	broad.mit.edu	37	22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:31971261T>C	ENST00000400288.2	+	10	1072	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L|SFI1_ENST00000432498.1_Missense_Mutation_p.F323L	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	323					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.F323L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGATATACTTCTGTGACTG	0.547																																						ENST00000432498.1																			1	Substitution - Missense(1)	p.F323L(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(967-969)Ttc>Ctc		Sfi1 homolog, spindle assembly associated (yeast)							64.0	67.0	66.0					22																	31971261		2021	4179	6200	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31971261T>C	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.967T>C	22.37:g.31971261T>C	ENSP00000383145:p.Phe323Leu					SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000400288.2_Missense_Mutation_p.F323L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L	p.F323L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			10	1360	+			323					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.967T>C	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921006	0.33908	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.16743	2.77;2.69;2.41;2.32;2.37;2.41;2.65	5.49	5.49	0.81192	.	0.166030	0.53938	N	0.000054	T	0.09423	0.0232	N	0.08118	0	0.44006	D	0.996716	B;B;B;B;B;B	0.29766	0.031;0.021;0.082;0.008;0.001;0.256	B;B;B;B;B;B	0.28011	0.035;0.013;0.085;0.008;0.004;0.058	T	0.29088	-1.0023	10	0.34782	T	0.22	.	11.9945	0.53194	0.0:0.0:0.0:1.0	.	299;241;241;323;323;299	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	L	323;299;241;299;170;170;241;323	ENSP00000402679:F323L;ENSP00000443025:F299L;ENSP00000416469:F241L;ENSP00000397148:F170L;ENSP00000401199:F170L;ENSP00000383146:F241L;ENSP00000383145:F323L	ENSP00000383145:F323L	F	+	1	0	SFI1	30301261	0.996000	0.38824	0.934000	0.37439	0.006000	0.05464	3.051000	0.49885	2.085000	0.62840	0.533000	0.62120	TTC		0.547	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		3	94	0	0	0	1	0	3	94				
TXN2	25828	broad.mit.edu	37	22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:36876770G>A	ENST00000216185.2	-	2	581	c.115C>T	c.(115-117)Cct>Tct	p.P39S	TXN2_ENST00000403313.1_Missense_Mutation_p.P39S|TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	39					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)	p.P39S(1)		breast(1)|lung(1)|prostate(1)	3						AGGCCACCAGGACTGCATTGT	0.552																																						ENST00000216185.2																			1	Substitution - Missense(1)	p.P39S(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(115-117)Cct>Tct		thioredoxin 2							122.0	108.0	113.0					22																	36876770		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876770G>A	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.115C>T	22.37:g.36876770G>A	ENSP00000216185:p.Pro39Ser					TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.P39S	p.P39S			Q99757	THIOM_HUMAN			2	581	-			39					Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.115C>T	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	g	7.091	0.572130	0.13623	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.11495	2.77;2.77	5.59	3.47	0.39725	.	0.347041	0.28821	N	0.014033	T	0.09468	0.0233	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39860	-0.9593	10	0.07325	T	0.83	-4.3909	11.0786	0.48047	0.0703:0.1333:0.7964:0.0	.	39	Q99757	THIOM_HUMAN	S	39	ENSP00000216185:P39S;ENSP00000385393:P39S	ENSP00000216185:P39S	P	-	1	0	TXN2	35206716	0.159000	0.22864	0.035000	0.18076	0.152000	0.21847	2.456000	0.44997	0.711000	0.32018	0.525000	0.51046	CCT		0.552	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		35	86	0	0	0	1	0	35	86				
C2orf71	388939	broad.mit.edu	37	2	29295481	29295481	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:29295481G>A	ENST00000331664.5	-	1	1646	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	549					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S549S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATCCTTTCGCTGATTGACT	0.582																																						ENST00000331664.5																			2	Substitution - coding silent(2)	p.S549S(2)	large_intestine(1)|prostate(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1645-1647)agC>agT		chromosome 2 open reading frame 71							48.0	51.0	50.0					2																	29295481		2000	4162	6162	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295481G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1647C>T	2.37:g.29295481G>A							p.S549S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1646	-			549						Silent	SNP	ENST00000331664.5	37	c.1647C>T	CCDS42669.1																																																																																				0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		48	101	0	0	0	1	0	48	101				
ITPRIPL1	150771	broad.mit.edu	37	2	96993657	96993657	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:96993657C>T	ENST00000439118.2	+	3	1539	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.R438W	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	430						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R438W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAAGTCTCCGGCAGCATCA	0.557																																						ENST00000361124.4																			1	Substitution - Missense(1)	p.R438W(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1312-1314)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							95.0	95.0	95.0					2																	96993657		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993657C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1288C>T	2.37:g.96993657C>T	ENSP00000389308:p.Arg430Trp					ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.R430W|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R422W	p.R438W	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1723	+			430					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.1312C>T	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	2.253	-0.371011	0.05034	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.5	1.48	0.22813	.	1.211210	0.06194	N	0.681849	T	0.09905	0.0243	L	0.39245	1.2	0.21841	N	0.999512	B;B	0.14012	0.001;0.009	B;B	0.04013	0.0;0.001	T	0.38757	-0.9646	10	0.37606	T	0.19	-14.2611	5.6295	0.17501	0.1259:0.5671:0.0:0.307	.	438;430	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	W	422;430;438;422	ENSP00000439566:R422W;ENSP00000389308:R430W;ENSP00000355121:R438W;ENSP00000438212:R422W	ENSP00000355121:R438W	R	+	1	2	ITPRIPL1	96357384	0.084000	0.21492	0.083000	0.20561	0.036000	0.12997	2.244000	0.43124	0.089000	0.17243	-0.751000	0.03497	CGG		0.557	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		4	183	0	0	0	1	0	4	183				
DET1	55070	broad.mit.edu	37	15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr15:89074369C>G	ENST00000268148.8	-	2	713	c.568G>C	c.(568-570)Gac>Cac	p.D190H	DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.D201H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H|DET1_ENST00000559656.1_5'Flank	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	190						nucleus (GO:0005634)		p.D201H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGAATAGTCTTCTAGAGGG	0.522																																						ENST00000564406.1																			1	Substitution - Missense(1)	p.D201H(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(601-603)Gac>Cac		de-etiolated homolog 1 (Arabidopsis)							57.0	57.0	57.0					15																	89074369		1950	4137	6087	SO:0001583	missense	55070					nucleus		g.chr15:89074369C>G	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.568G>C	15.37:g.89074369C>G	ENSP00000268148:p.Asp190His					DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.D190H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H	p.D201H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	761	-	Lung NSC(78;0.105)|all_lung(78;0.182)		190					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.601G>C	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340949	0.60963	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.53780	1.695	0.80722	D	1	P;P	0.39326	0.668;0.668	B;B	0.40444	0.329;0.329	T	0.65405	-0.6176	9	0.56958	D	0.05	-36.5648	19.3813	0.94536	0.0:1.0:0.0:0.0	.	190;201	Q7L5Y6;B3KNN6	DET1_HUMAN;.	H	201;190	.	ENSP00000268148:D190H	D	-	1	0	DET1	86875373	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.213000	0.77950	2.824000	0.97209	0.655000	0.94253	GAC		0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		23	46	0	0	0	1	0	23	46				
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	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)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	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)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20743	0.0		0.001	False		,,,				2504	0.0					ENST00000402938.3																			3	Substitution - Missense(3)	p.A343V(3)	prostate(2)|lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1027-1029)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, rho 2							116.0	88.0	97.0					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				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.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	p.A343V			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1161	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1028C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			3	62	0	0	0	1	0	3	62				
DPY19L1	23333	broad.mit.edu	37	7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:34981489T>A	ENST00000310974.4	-	18	1502	c.1358A>T	c.(1357-1359)tAc>tTc	p.Y453F	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	453						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.Y453F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CAATGCATGGTAAACCAGCTG	0.363																																						ENST00000310974.4																			1	Substitution - Missense(1)	p.Y453F(1)	prostate(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1357-1359)tAc>tTc		dpy-19-like 1 (C. elegans)							50.0	50.0	50.0					7																	34981489		1802	4060	5862	SO:0001583	missense	23333					integral to membrane		g.chr7:34981489T>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1358A>T	7.37:g.34981489T>A	ENSP00000308695:p.Tyr453Phe						p.Y453F	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			18	1502	-			453					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1358A>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026205	0.35701	.	.	ENSG00000173852	ENST00000310974	T	0.66460	-0.21	5.14	5.14	0.70334	.	0.120414	0.64402	D	0.000018	T	0.51024	0.1650	N	0.21545	0.675	0.53688	D	0.999975	B	0.28605	0.217	B	0.30855	0.121	T	0.48490	-0.9031	10	0.24483	T	0.36	-14.3475	10.9237	0.47180	0.1401:0.0:0.0:0.8599	.	453	Q2PZI1	D19L1_HUMAN	F	453	ENSP00000308695:Y453F	ENSP00000308695:Y453F	Y	-	2	0	DPY19L1	34948014	1.000000	0.71417	0.978000	0.43139	0.831000	0.47069	4.040000	0.57333	2.072000	0.62099	0.472000	0.43445	TAC		0.363	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			6	203	0	0	0	1	0	6	203				
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587																																						ENST00000369155.2																			2	Substitution - Missense(2)	p.G54D(2)	lung(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(160-162)gGc>gAc		histone cluster 2, H2be							179.0	169.0	173.0					1																	149858030		2203	4298	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858030C>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.161G>A	1.37:g.149858030C>T	ENSP00000358151:p.Gly54Asp						p.G54D	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	202	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.161G>A	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885533	0.91814	.	.	ENSG00000184678	ENST00000369155	T	0.69435	-0.4	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.93150	3.385	0.50171	D	0.999859	D	0.61697	0.99	D	0.64595	0.927	D	0.87651	0.2528	10	0.87932	D	0	.	18.9081	0.92471	0.0:1.0:0.0:0.0	.	54	Q16778	H2B2E_HUMAN	D	54	ENSP00000358151:G54D	ENSP00000358151:G54D	G	-	2	0	HIST2H2BE	148124654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.810000	0.96702	0.586000	0.80456	GGC		0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		5	304	0	0	0	1	0	5	304				
GRIN2A	2903	broad.mit.edu	37	16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:9858281C>A	ENST00000396573.2	-	14	3429	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1040					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1040D(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGTCCTATTCTCTGCTGTTG	0.532																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.E1040D(1)	prostate(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3118-3120)gaG>gaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						134.0	141.0	139.0					16																	9858281		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858281C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3120G>T	16.37:g.9858281C>A	ENSP00000379818:p.Glu1040Asp					GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D	p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3429	-			1040					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3120G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.938	0.357052	0.11239	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11495	2.79;2.77;2.77;2.79;2.79	5.33	4.38	0.52667	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.283100	0.41605	D	0.000853	T	0.13543	0.0328	L	0.51422	1.61	0.34101	D	0.6619	P;P;B	0.45986	0.652;0.87;0.224	B;P;B	0.45856	0.245;0.495;0.171	T	0.19976	-1.0289	9	.	.	.	.	9.7956	0.40733	0.0:0.8264:0.0:0.1736	.	883;1040;1040	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	D	1040;1040;883;1040;1040	ENSP00000379818:E1040D;ENSP00000385872:E1040D;ENSP00000441572:E883D;ENSP00000332549:E1040D;ENSP00000379820:E1040D	.	E	-	3	2	GRIN2A	9765782	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	1.551000	0.36233	1.262000	0.44165	-0.119000	0.15052	GAG		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			100	232	1	0	1.10825e-40	1	1.26865e-40	100	232				
TEX11	56159	broad.mit.edu	37	X	69844762	69844762	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:69844762T>C	ENST00000395889.2	-	20	1821	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V|TEX11_ENST00000374320.2_Missense_Mutation_p.I231V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	556					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.I541V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCCACAATTTGTTGTCCA	0.318																																						ENST00000395889.2																			1	Substitution - Missense(1)	p.I541V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1666-1668)Att>Gtt		testis expressed 11							111.0	96.0	101.0					X																	69844762		2201	4300	6501	SO:0001583	missense	0						protein binding	g.chrX:69844762T>C	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1666A>G	X.37:g.69844762T>C	ENSP00000379226:p.Ile556Val					TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V|TEX11_ENST00000374320.2_Missense_Mutation_p.I231V	p.I556V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			20	1821	-	Renal(35;0.156)		556					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1666A>G	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.756710	0.00657	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	3.73	-3.06	0.05379	.	0.883227	0.09818	N	0.751890	T	0.22003	0.0530	N	0.25144	0.715	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.21381	-1.0247	9	.	.	.	1.2635	4.8348	0.13458	0.1978:0.5075:0.0:0.2947	.	541;556	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	V	541;556;231;556	ENSP00000363453:I541V;ENSP00000379226:I556V;ENSP00000363440:I231V;ENSP00000340995:I556V	.	I	-	1	0	TEX11	69761487	0.154000	0.22792	0.117000	0.21633	0.981000	0.71138	-0.006000	0.12833	-0.621000	0.05633	-0.328000	0.08392	ATT		0.318	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			4	39	0	0	0	1	0	4	39				
TSHZ3	57616	broad.mit.edu	37	19	31769517	31769517	+	Silent	SNP	C	C	T	rs369438297		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:31769517C>T	ENST00000240587.4	-	2	1509	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	394					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S211S(1)|p.S394S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGTGTCATGCGAGCTCCCAC	0.557																																						ENST00000240587.4																			2	Substitution - coding silent(2)	p.S211S(1)|p.S394S(1)	prostate(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1180-1182)tcG>tcA		teashirt zinc finger homeobox 3		C		0,4406		0,0,2203	163.0	152.0	156.0		1182	-8.0	0.1	19		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		394/1082	31769517	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769517C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1182G>A	19.37:g.31769517C>T							p.S394S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1509	-	Esophageal squamous(110;0.226)		394					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1182G>A	CCDS12421.2																																																																																				0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	222	0	0	0	1	0	7	222				
RPE65	6121	broad.mit.edu	37	1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	rs141527042		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388																																						ENST00000262340.5																			1	Substitution - Missense(1)	p.N199K(1)	prostate(1)	central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(595-597)aaT>aaA		retinal pigment epithelium-specific protein 65kDa		A	LYS/ASN	1,4405		0,1,2202	85.0	89.0	87.0		597	-1.1	1.0	1	dbSNP_134	87	0,8600		0,0,4300	no	missense	RPE65	NM_000329.2	94	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign	199/534	68906582	1,13005	2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906582A>T	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.597T>A	1.37:g.68906582A>T	ENSP00000262340:p.Asn199Lys						p.N199K	NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			6	650	-			199					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.597T>A	CCDS643.1	.	.	.	.	.	.	.	.	.	.	A	3.604	-0.081012	0.07141	2.27E-4	0.0	ENSG00000116745	ENST00000262340	D	0.94330	-3.4	5.43	-1.07	0.09968	.	0.252895	0.46145	D	0.000305	T	0.73369	0.3578	L	0.29908	0.895	0.49798	D	0.999825	B	0.09022	0.002	B	0.08055	0.003	T	0.65356	-0.6188	10	0.02654	T	1	-11.0024	11.6572	0.51325	0.6145:0.0:0.3855:0.0	.	199	Q16518	RPE65_HUMAN	K	199	ENSP00000262340:N199K	ENSP00000262340:N199K	N	-	3	2	RPE65	68679170	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	0.876000	0.28092	-0.164000	0.10927	-0.361000	0.07541	AAT		0.388	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		3	102	0	0	0	1	0	3	102				
ADAM12	8038	broad.mit.edu	37	10	127737879	127737879	+	Silent	SNP	G	G	A	rs539968083		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:127737879G>A	ENST00000368679.4	-	16	2178	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Silent_p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	623	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G623G(4)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCATGTCATCGCCCAAGTACA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19667	0.0		0.0	False		,,,				2504	0.0					ENST00000368679.4																			4	Substitution - coding silent(4)	p.G623G(4)	prostate(4)	biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1867-1869)ggC>ggT		ADAM metallopeptidase domain 12							171.0	175.0	174.0					10																	127737879		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737879G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1869C>T	10.37:g.127737879G>A						ADAM12_ENST00000368676.4_Silent_p.G623G	p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2178	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	623			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1869C>T	CCDS7653.1																																																																																				0.532	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			139	266	0	0	0	1	0	139	266				
RPGRIP1	57096	broad.mit.edu	37	14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A	rs374509235		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:21796693C>A	ENST00000400017.2	+	18	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.Y1002*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1002					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.Y618*(1)|p.Y1002*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTGAGCTACTCAAGAAGAA	0.428																																						ENST00000206660.6																			2	Substitution - Nonsense(2)	p.Y618*(1)|p.Y1002*(1)	prostate(2)	breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(3004-3006)taC>taA		retinitis pigmentosa GTPase regulator interacting protein 1							100.0	95.0	97.0					14																	21796693		1864	4112	5976	SO:0001587	stop_gained	57096				response to stimulus|visual perception	cilium		g.chr14:21796693C>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3006C>A	14.37:g.21796693C>A	ENSP00000382895:p.Tyr1002*					RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*	p.Y1002*			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	18	3006	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	1002			Interaction with RPGR.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	c.3006C>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	40	8.192122	0.98699	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	.	.	.	4.74	2.76	0.32466	.	0.704071	0.13523	N	0.381547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9953	5.7332	0.18051	0.0:0.7554:0.0:0.2446	.	.	.	.	X	659;964;1002;1002;328;477;361	.	ENSP00000206660:Y1002X	Y	+	3	2	RPGRIP1	20866533	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	0.725000	0.25970	1.233000	0.43693	0.650000	0.86243	TAC		0.428	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		3	110	1	0	0.115264	1	0.122292	3	110				
PCSK2	5126	broad.mit.edu	37	20	17462414	17462414	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:17462414G>A	ENST00000262545.2	+	12	1931	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	PCSK2_ENST00000377899.1_Missense_Mutation_p.R520H|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.R504H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	539					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R539H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGAGCCGGCGTCCAAGGGAT	0.577																																						ENST00000262545.2																			1	Substitution - Missense(1)	p.R539H(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1615-1617)cGt>cAt		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						91.0	71.0	77.0					20																	17462414		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462414G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1616G>A	20.37:g.17462414G>A	ENSP00000262545:p.Arg539His					PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.R520H|PCSK2_ENST00000536609.1_Missense_Mutation_p.R504H	p.R539H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	1931	+			539					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1616G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279005	0.95489	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.71817	-0.6;-0.6;-0.6	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.048541	0.85682	D	0.000000	D	0.89371	0.6696	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91884	0.5518	10	0.87932	D	0	-20.863	18.6061	0.91266	0.0:0.0:1.0:0.0	.	504;520;539	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	H	520;539;504	ENSP00000367131:R520H;ENSP00000262545:R539H;ENSP00000437458:R504H	ENSP00000262545:R539H	R	+	2	0	PCSK2	17410414	1.000000	0.71417	0.979000	0.43373	0.961000	0.63080	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	CGT		0.577	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		28	38	0	0	0	1	0	28	38				
LRP1	4035	broad.mit.edu	37	12	57587385	57587385	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:57587385G>A	ENST00000243077.3	+	47	8187	c.7721G>A	c.(7720-7722)aGc>aAc	p.S2574N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2574	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S2574N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGTGCAGCAATGGGCGC	0.612																																						ENST00000243077.3																			1	Substitution - Missense(1)	p.S2574N(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7720-7722)aGc>aAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						77.0	69.0	72.0					12																	57587385		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587385G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7721G>A	12.37:g.57587385G>A	ENSP00000243077:p.Ser2574Asn						p.S2574N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	47	8187	+			2574			LDL-receptor class A 12.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7721G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377696	0.24944	.	.	ENSG00000123384	ENST00000243077	D	0.95412	-3.7	5.01	-2.31	0.06765	.	0.394104	0.24309	N	0.039648	D	0.85873	0.5798	N	0.16266	0.395	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.67887	-0.5554	10	0.16896	T	0.51	.	5.5753	0.17220	0.3625:0.0:0.4302:0.2073	.	2574	Q07954	LRP1_HUMAN	N	2574	ENSP00000243077:S2574N	ENSP00000243077:S2574N	S	+	2	0	LRP1	55873652	0.001000	0.12720	0.978000	0.43139	0.458000	0.32498	0.004000	0.13106	-0.521000	0.06426	-0.982000	0.02568	AGC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	48	0	0	0	1	0	3	48				
OR6K6	128371	broad.mit.edu	37	1	158725158	158725158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158725158C>A	ENST00000368144.2	+	1	649	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L185I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTCCTTGTGCTTCCTGAGAT	0.488																																						ENST00000368144.2																			1	Substitution - Missense(1)	p.L185I(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(553-555)Ctt>Att		olfactory receptor, family 6, subfamily K, member 6							145.0	117.0	126.0					1																	158725158		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725158C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.553C>A	1.37:g.158725158C>A	ENSP00000357126:p.Leu185Ile						p.L185I	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	649	+	all_hematologic(112;0.0378)		185					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.553C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919099	0.33908	.	.	ENSG00000180433	ENST00000368144	T	0.00249	8.44	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001305	T	0.00144	0.0004	L	0.50919	1.6	0.25476	N	0.987785	D	0.76494	0.999	D	0.74023	0.982	T	0.55879	-0.8071	10	0.21540	T	0.41	-25.2736	7.7923	0.29127	0.0:0.7523:0.1642:0.0835	.	185	Q8NGW6	OR6K6_HUMAN	I	185	ENSP00000357126:L185I	ENSP00000357126:L185I	L	+	1	0	OR6K6	156991782	0.000000	0.05858	1.000000	0.80357	0.457000	0.32468	-0.191000	0.09601	2.848000	0.98002	0.655000	0.94253	CTT		0.488	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		7	122	1	0	0.27861	1	0.288561	7	122				
ZFP36L1	677	broad.mit.edu	37	14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:69256543T>C	ENST00000439696.2	-	2	1025	c.724A>G	c.(724-726)Acc>Gcc	p.T242A	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	242					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T242A(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGCAGGGTAGGTGAGCCC	0.677											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			1	Substitution - Missense(1)	p.T242A(1)	prostate(1)	breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(724-726)Acc>Gcc		ZFP36 ring finger protein-like 1							75.0	87.0	83.0					14																	69256543		2202	4300	6502	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256543T>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.724A>G	14.37:g.69256543T>C	ENSP00000388402:p.Thr242Ala		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A	p.T242A	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1025	-			242					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.724A>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555284	0.27739	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.28666	1.6;1.6	4.64	3.47	0.39725	.	0.000000	0.48767	D	0.000162	T	0.26738	0.0654	N	0.16790	0.44	0.80722	D	1	D	0.57257	0.979	P	0.54924	0.764	T	0.01920	-1.1247	10	0.12103	T	0.63	-16.5423	11.5294	0.50599	0.0:0.0:0.1501:0.8499	.	242	Q07352	TISB_HUMAN	A	242;242;225	ENSP00000388402:T242A;ENSP00000337386:T242A	ENSP00000337386:T242A	T	-	1	0	ZFP36L1	68326296	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	7.301000	0.78850	0.790000	0.33803	0.477000	0.44152	ACC		0.677	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			5	179	0	0	0	1	0	5	179				
SEL1L3	23231	broad.mit.edu	37	4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr4:25783976T>C	ENST00000399878.3	-	15	2467	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	782						integral component of membrane (GO:0016021)		p.K782R(1)|p.K629R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTTTGGCGTAATT	0.418																																						ENST00000399878.3																			2	Substitution - Missense(2)	p.K782R(1)|p.K629R(1)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2344-2346)aAa>aGa		sel-1 suppressor of lin-12-like 3 (C. elegans)							183.0	166.0	172.0					4																	25783976		1860	4108	5968	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25783976T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2345A>G	4.37:g.25783976T>C	ENSP00000382767:p.Lys782Arg					SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R	p.K782R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			15	2467	-			782					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2345A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910077	0.52439	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.56103	0.48;0.48;0.48	5.66	1.96	0.26148	Tetratricopeptide-like helical (1);	0.436111	0.27019	N	0.021325	T	0.48223	0.1488	N	0.19112	0.55	0.35032	D	0.758893	D;P	0.56287	0.975;0.926	P;P	0.57371	0.819;0.517	T	0.56727	-0.7931	10	0.49607	T	0.09	-7.6333	9.1858	0.37170	0.0:0.2047:0.0:0.7953	.	189;782	B4DTH5;Q68CR1	.;SE1L3_HUMAN	R	782;747;629	ENSP00000382767:K782R;ENSP00000264868:K747R;ENSP00000425438:K629R	ENSP00000264868:K747R	K	-	2	0	SEL1L3	25393074	1.000000	0.71417	0.936000	0.37596	0.777000	0.43975	2.994000	0.49433	0.116000	0.18110	-0.371000	0.07208	AAA		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		58	110	0	0	0	1	0	58	110				
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559). {ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATATATGCGTTGGAGTGT	0.463																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R3558H(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10672-10674)cGc>cAc		apolipoprotein B	Atorvastatin(DB01076)						67.0	69.0	68.0					2																	21229067		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229067C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10673G>A	2.37:g.21229067C>T	ENSP00000233242:p.Arg3558His						p.R3558H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3558		R -> C (in FDB; dbSNP:rs12713559).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10673G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	APOB	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			49	90	0	0	0	1	0	49	90				
USP5	8078	broad.mit.edu	37	12	6964975	6964975	+	Silent	SNP	G	G	A	rs371575316		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:6964975G>A	ENST00000229268.8	+	3	346	c.294G>A	c.(292-294)cgG>cgA	p.R98R	USP5_ENST00000389231.5_Silent_p.R98R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	98					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCACGCGGCTGGCTATTG	0.582																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(292-294)cgG>cgA		ubiquitin specific peptidase 5 (isopeptidase T)		G	,	0,4406		0,0,2203	57.0	62.0	60.0		294,294	-1.1	1.0	12		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	USP5	NM_001098536.1,NM_003481.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	98/859,98/836	6964975	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6964975G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.294G>A	12.37:g.6964975G>A						USP5_ENST00000389231.5_Silent_p.R98R	p.R98R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			3	346	+			98					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.294G>A	CCDS41743.1																																																																																				0.582	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			4	159	0	0	0	1	0	4	159				
CCDC178	374864	broad.mit.edu	37	18	30517984	30517984	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr18:30517984G>A	ENST00000383096.3	-	23	2777	c.2595C>T	c.(2593-2595)aaC>aaT	p.N865N	CCDC178_ENST00000583930.1_Silent_p.N889N|CCDC178_ENST00000581852.1_Silent_p.N70N|CCDC178_ENST00000406524.2_Silent_p.N889N|CCDC178_ENST00000579916.1_Silent_p.N185N|CCDC178_ENST00000402325.1_Silent_p.N815N|CCDC178_ENST00000403303.1_Silent_p.N865N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000300227.8_Silent_p.N827N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	865								p.N865N(1)|p.N827N(1)									CTTAACCATCGTTTTCGCATG	0.368																																						ENST00000383096.3																			2	Substitution - coding silent(2)	p.N865N(1)|p.N827N(1)	prostate(2)								c.(2593-2595)aaC>aaT		coiled-coil domain containing 178							180.0	161.0	167.0					18																	30517984		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30517984G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2595C>T	18.37:g.30517984G>A						CCDC178_ENST00000581852.1_Silent_p.N70N|CCDC178_ENST00000300227.8_Silent_p.N827N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000403303.1_Silent_p.N865N|CCDC178_ENST00000402325.1_Silent_p.N815N|CCDC178_ENST00000579916.1_Silent_p.N185N|CCDC178_ENST00000406524.2_Silent_p.N889N|CCDC178_ENST00000583930.1_Silent_p.N889N	p.N865N							23	2777	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2595C>T	CCDS42424.1																																																																																				0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		37	67	0	0	0	1	0	37	67				
BTNL3	10917	broad.mit.edu	37	5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T	rs200172568	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537																																						ENST00000342868.6																			1	Substitution - Missense(1)	p.P299L(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(895-897)cCg>cTg		butyrophilin-like 3							38.0	45.0	43.0					5																	180432367		2200	4276	6476	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432367C>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.896C>T	5.37:g.180432367C>T	ENSP00000341787:p.Pro299Leu						p.P299L	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1080	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	299			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.896C>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289877	0.40494	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.14640	2.49	2.55	-2.57	0.06248	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.27313	0.0670	M	0.66378	2.025	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.12915	-1.0529	9	0.62326	D	0.03	.	4.6143	0.12418	0.0:0.5887:0.1801:0.2311	.	265;299	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	L	299;265	ENSP00000341787:P299L	ENSP00000341787:P299L	P	+	2	0	BTNL3	180364973	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	0.776000	0.26704	-0.286000	0.09076	0.184000	0.17185	CCG		0.537	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		42	101	0	0	0	1	0	42	101				
ADRA1A	148	broad.mit.edu	37	8	26721617	26721617	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:26721617T>G	ENST00000519229.1	-	1	876	c.870A>C	c.(868-870)ttA>ttC	p.L290F	ADRA1A_ENST00000380581.2_Missense_Mutation_p.L290F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380573.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000276393.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380587.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.L290F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.L290F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	366					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.L290F(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGGCATGACTAAGAAAAAAG	0.562																																						ENST00000380573.3																			5	Substitution - Missense(5)	p.L290F(5)	prostate(5)	breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(868-870)ttA>ttC		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						43.0	40.0	41.0					8																	26721617		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721617T>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.870A>C	8.37:g.26721617T>G	ENSP00000430793:p.Leu290Phe					ADRA1A_ENST00000276393.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000519229.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.L290F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380587.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000380581.2_Missense_Mutation_p.L290F	p.L290F			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1893	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	290					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.870A>C		.	.	.	.	.	.	.	.	.	.	T	5.118	0.207404	0.09704	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.27	-7.93	0.01156	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.64527	0.2606	L	0.29908	0.895	0.32547	N	0.532931	B;B;B;B;D;B	0.58268	0.138;0.138;0.08;0.128;0.982;0.08	B;B;B;B;P;B	0.61201	0.073;0.073;0.074;0.098;0.885;0.119	T	0.70346	-0.4897	10	0.19147	T	0.46	.	6.9799	0.24698	0.0996:0.5267:0.1018:0.2719	.	290;290;290;290;290;290	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	F	290	ENSP00000369960:L290F;ENSP00000369961:L290F;ENSP00000369956:L290F;ENSP00000369955:L290F;ENSP00000430793:L290F;ENSP00000346557:L290F;ENSP00000276393:L290F;ENSP00000369947:L290F;ENSP00000369946:L290F;ENSP00000351725:L290F	ENSP00000276393:L290F	L	-	3	2	ADRA1A	26777534	0.036000	0.19791	0.500000	0.27589	0.561000	0.35649	-0.925000	0.03992	-1.629000	0.01546	-0.468000	0.05107	TTA		0.562	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		4	39	0	0	0	1	0	4	39				
METTL5	29081	broad.mit.edu	37	2	170677648	170677648	+	Silent	SNP	G	G	A	rs373339746		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:170677648G>A	ENST00000260953.5	-	3	676	c.360C>T	c.(358-360)ttC>ttT	p.F120F	METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000410097.1_Silent_p.F120F|METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000409837.1_Silent_p.F120F|METTL5_ENST00000392640.2_Silent_p.F120F	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	120							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.F120F(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTACTGTATCGAATGACTTGG	0.303																																						ENST00000410097.1																			2	Substitution - coding silent(2)	p.F120F(2)	large_intestine(1)|prostate(1)	breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						c.(358-360)ttC>ttT		methyltransferase like 5		G		0,4406		0,0,2203	103.0	103.0	103.0		360	3.8	1.0	2		103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	METTL5	NM_014168.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		120/210	170677648	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170677648G>A	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.360C>T	2.37:g.170677648G>A						METTL5_ENST00000392640.2_Silent_p.F120F|METTL5_ENST00000260953.5_Silent_p.F120F|METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000409837.1_Silent_p.F120F|METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000409340.1_Intron	p.F120F			Q9NRN9	METL5_HUMAN			4	495	-			120					D3DPC9|Q9NVX1	Silent	SNP	ENST00000260953.5	37	c.360C>T	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022876	0.19433	0.0	2.33E-4	ENSG00000138382	ENST00000540464;ENST00000442181	.	.	.	5.04	3.81	0.43845	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53373	-0.8448	4	.	.	.	-2.7061	8.2197	0.31534	0.8422:0.0:0.1578:0.0	.	.	.	.	L	120;31	.	.	S	-	2	0	METTL5	170385894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.675000	0.54605	0.854000	0.35336	-0.290000	0.09829	TCG		0.303	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168		4	117	0	0	0	1	0	4	117				
RBFOX1	54715	broad.mit.edu	37	16	7645571	7645571	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:7645571C>T	ENST00000550418.1	+	8	1477	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RBFOX1_ENST00000422070.4_Silent_p.F206F|RBFOX1_ENST00000355637.4_Silent_p.F183F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Silent_p.F180F|RBFOX1_ENST00000547372.1_Silent_p.F206F|RBFOX1_ENST00000436368.2_Silent_p.F183F|RBFOX1_ENST00000340209.4_Silent_p.F168F|RBFOX1_ENST00000311745.5_Silent_p.F183F|RBFOX1_ENST00000547338.1_Silent_p.F163F|RBFOX1_ENST00000553186.1_Silent_p.F163F	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	163	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.F183F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCGTAACTTTCGAAAATAGTG	0.453																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - coding silent(2)	p.F183F(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(502-504)ttC>ttT		RNA binding protein, fox-1 homolog (C. elegans) 1							169.0	149.0	156.0					16																	7645571		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645571C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.489C>T	16.37:g.7645571C>T						RBFOX1_ENST00000311745.5_Silent_p.F183F|RBFOX1_ENST00000550418.1_Silent_p.F163F|RBFOX1_ENST00000547372.1_Silent_p.F206F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.F183F|RBFOX1_ENST00000436368.2_Silent_p.F183F|RBFOX1_ENST00000552089.1_Silent_p.F180F|RBFOX1_ENST00000547338.1_Silent_p.F163F|RBFOX1_ENST00000553186.1_Silent_p.F163F|RBFOX1_ENST00000422070.4_Silent_p.F206F	p.F168F			Q9NWB1	RFOX1_HUMAN			5	801	+			163			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.504C>T	CCDS55983.1																																																																																				0.453	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		89	126	0	0	0	1	0	89	126				
SLC45A4	57210	broad.mit.edu	37	8	142226017	142226017	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:142226017G>A	ENST00000024061.3	-	6	1936	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	SLC45A4_ENST00000519067.1_Silent_p.Y543Y|SLC45A4_ENST00000433583.2_Silent_p.Y536Y|SLC45A4_ENST00000517878.1_Silent_p.Y594Y	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Y543Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCCCAGCACGTAGATCACCC	0.602																																						ENST00000519067.1																			1	Substitution - coding silent(1)	p.Y543Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1627-1629)taC>taT		solute carrier family 45, member 4							147.0	97.0	114.0					8																	142226017		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142226017G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1629C>T	8.37:g.142226017G>A						SLC45A4_ENST00000024061.3_Silent_p.Y543Y|SLC45A4_ENST00000433583.2_Silent_p.Y536Y|SLC45A4_ENST00000517878.1_Silent_p.Y594Y	p.Y543Y			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		6	1932	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		594					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1629C>T	CCDS34948.1																																																																																				0.602	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		8	39	0	0	0	1	0	8	39				
WDR77	79084	broad.mit.edu	37	1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:111983947G>C	ENST00000235090.5	-	10	1140	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	WDR77_ENST00000411751.2_Missense_Mutation_p.L248V|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	312					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.L312V(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTAAGCAGGGAGTGATTG	0.537																																						ENST00000235090.5																			1	Substitution - Missense(1)	p.L312V(1)	prostate(1)	NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(934-936)Ctg>Gtg		WD repeat domain 77							114.0	105.0	108.0					1																	111983947		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983947G>C	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.934C>G	1.37:g.111983947G>C	ENSP00000235090:p.Leu312Val					WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	p.L312V	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1140	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	312					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.934C>G	CCDS835.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433404	0.62844	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.31510	1.54;1.49	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.321554	0.35378	N	0.003247	T	0.13415	0.0325	M	0.64997	1.995	0.34973	D	0.753331	B;P	0.36086	0.126;0.536	B;B	0.24269	0.035;0.052	T	0.19160	-1.0314	10	0.52906	T	0.07	-19.3641	6.5778	0.22577	0.1107:0.0:0.7185:0.1709	.	248;312	B4DP38;Q9BQA1	.;MEP50_HUMAN	V	312;248	ENSP00000235090:L312V;ENSP00000400321:L248V	ENSP00000235090:L312V	L	-	1	2	WDR77	111785470	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.145000	0.50623	2.808000	0.96608	0.655000	0.94253	CTG		0.537	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		13	130	0	0	0	1	0	13	130				
NCOA4	8031	broad.mit.edu	37	10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:51584833C>T	ENST00000443446.1	+	8	1161	c.932C>T	c.(931-933)tCc>tTc	p.S311F	NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000452682.1_Missense_Mutation_p.S327F	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	311					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.S327F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCAGGAATCCCATAAGCTG	0.438			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.S327F(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(979-981)tCc>tTc		nuclear receptor coactivator 4							80.0	81.0	81.0					10																	51584833		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584833C>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.932C>T	10.37:g.51584833C>T	ENSP00000390713:p.Ser311Phe					NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F	p.S327F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1232	+			311					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.980C>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682397	0.29872	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	6.03	4.17	0.49024	.	0.858095	0.10311	N	0.689909	T	0.43389	0.1245	M	0.63428	1.95	0.09310	N	1	P;P;D;P	0.54397	0.884;0.939;0.966;0.487	P;P;P;B	0.52267	0.459;0.694;0.694;0.361	T	0.22591	-1.0212	9	.	.	.	-9.5798	11.3069	0.49340	0.0:0.8033:0.0:0.1967	.	211;327;327;311	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	F	327;327;211;311;145;311;311;311	ENSP00000405146:S327F;ENSP00000395465:S327F;ENSP00000393053:S211F;ENSP00000363200:S311F;ENSP00000411018:S145F;ENSP00000344552:S311F;ENSP00000363195:S311F;ENSP00000390713:S311F	.	S	+	2	0	NCOA4	51254839	0.001000	0.12720	0.005000	0.12908	0.139000	0.21198	0.927000	0.28818	1.551000	0.49450	0.655000	0.94253	TCC		0.438	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		43	82	0	0	0	1	0	43	82				
AXDND1	126859	broad.mit.edu	37	1	179452332	179452332	+	Silent	SNP	C	C	T	rs141202947		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:179452332C>T	ENST00000367618.3	+	18	2454	c.2067C>T	c.(2065-2067)aaC>aaT	p.N689N	AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	689								p.N689N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAATTAACAACGGTAACATTG	0.348																																						ENST00000367618.3																			1	Substitution - coding silent(1)	p.N689N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2065-2067)aaC>aaT		axonemal dynein light chain domain containing 1		C		0,4406		0,0,2203	137.0	133.0	134.0		2067	-9.7	0.2	1	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AXDND1	NM_144696.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		689/1013	179452332	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126859							g.chr1:179452332C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2067C>T	1.37:g.179452332C>T						AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	p.N689N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			18	2454	+			689					Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.2067C>T	CCDS30948.1																																																																																				0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		38	144	0	0	0	1	0	38	144				
AHNAK	79026	broad.mit.edu	37	11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62286704A>C	ENST00000378024.4	-	5	15459	c.15185T>G	c.(15184-15186)gTc>gGc	p.V5062G	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5062					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V5062G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCGATGTTGACATCTACATC	0.463																																						ENST00000378024.4																			1	Substitution - Missense(1)	p.V5062G(1)	prostate(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(15184-15186)gTc>gGc		AHNAK nucleoprotein							158.0	164.0	162.0					11																	62286704		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286704A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15185T>G	11.37:g.62286704A>C	ENSP00000367263:p.Val5062Gly					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.V5062G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15459	-		Melanoma(852;0.155)	5062					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.15185T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	9.175	1.022193	0.19433	.	.	ENSG00000124942	ENST00000378024	T	0.01313	5.02	4.86	4.86	0.63082	.	0.000000	0.38436	N	0.001688	T	0.03220	0.0094	M	0.84773	2.715	0.19300	N	0.999979	B	0.19706	0.038	B	0.24541	0.054	T	0.33085	-0.9882	10	0.19590	T	0.45	-14.6053	11.1731	0.48584	0.8461:0.1539:0.0:0.0	.	5062	Q09666	AHNK_HUMAN	G	5062	ENSP00000367263:V5062G	ENSP00000367263:V5062G	V	-	2	0	AHNAK	62043280	0.004000	0.15560	0.079000	0.20413	0.309000	0.27889	2.029000	0.41098	1.954000	0.56735	0.443000	0.29094	GTC		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	408	0	0	0	1	0	7	408				
CDPF1	150383	broad.mit.edu	37	22	46643050	46643050	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:46643050C>T	ENST00000314567.3	-	3	605	c.182G>A	c.(181-183)gGc>gAc	p.G61D	CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	61								p.G61D(1)									GCAGCACGAGCCGAGGACCAG	0.597																																						ENST00000314567.3																			1	Substitution - Missense(1)	p.G61D(1)	prostate(1)								c.(181-183)gGc>gAc		cysteine-rich, DPF motif domain containing 1							80.0	65.0	70.0					22																	46643050		2203	4300	6503	SO:0001583	missense	150383							g.chr22:46643050C>T		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 40"""	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.182G>A	22.37:g.46643050C>T	ENSP00000325301:p.Gly61Asp					CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D	p.G61D	NM_207327.4	NP_997210.3					3	605	-								A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	ENST00000314567.3	37	c.182G>A	CCDS33670.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234294	0.39498	.	.	ENSG00000205643	ENST00000404583;ENST00000314567;ENST00000404744	T;T;T	0.63417	-0.04;-0.04;-0.04	5.31	5.31	0.75309	Cysteine-rich domain, DPF-motif (2);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.85964	0.1472	10	0.87932	D	0	.	16.4833	0.84163	0.0:1.0:0.0:0.0	.	61;61;61	Q6NVV7;F6RAJ7;F6UL18	CV040_HUMAN;.;.	D	61	ENSP00000384451:G61D;ENSP00000325301:G61D;ENSP00000385460:G61D	ENSP00000325301:G61D	G	-	2	0	C22orf40	45021714	1.000000	0.71417	0.895000	0.35142	0.035000	0.12851	5.718000	0.68455	2.468000	0.83385	0.655000	0.94253	GGC		0.597	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		3	24	0	0	0	1	0	3	24				
SULF1	23213	broad.mit.edu	37	8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:70533358C>T	ENST00000260128.4	+	14	2183	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	489					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.T489M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCAGAGCACGCGGAACCTC	0.522																																						ENST00000260128.4																			1	Substitution - Missense(1)	p.T489M(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1465-1467)aCg>aTg		sulfatase 1							82.0	81.0	82.0					8																	70533358		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70533358C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1466C>T	8.37:g.70533358C>T	ENSP00000260128:p.Thr489Met					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M	p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		14	2183	+	Breast(64;0.0654)		489					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1466C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336929	0.60963	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.95	5.08	0.68730	Alkaline-phosphatase-like, core domain (1);	0.419750	0.30219	N	0.010124	D	0.95680	0.8595	N	0.12182	0.205	0.31988	N	0.604949	B	0.29612	0.251	B	0.34346	0.18	D	0.95482	0.8561	10	0.33940	T	0.23	.	15.1228	0.72457	0.0:0.9326:0.0:0.0674	.	489	Q8IWU6	SULF1_HUMAN	M	489	ENSP00000403040:T489M;ENSP00000260128:T489M;ENSP00000385704:T489M;ENSP00000390315:T489M	ENSP00000260128:T489M	T	+	2	0	SULF1	70695912	0.989000	0.36119	0.783000	0.31826	0.455000	0.32408	5.365000	0.66116	1.534000	0.49203	0.655000	0.94253	ACG		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		22	85	0	0	0	1	0	22	85				
COL3A1	1281	broad.mit.edu	37	2	189874962	189874962	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:189874962T>C	ENST00000304636.3	+	49	4052	c.3882T>C	c.(3880-3882)tgT>tgC	p.C1294C	COL3A1_ENST00000317840.5_Silent_p.C991C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1294	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.C1294C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGTATTCTGTAATATGGAAA	0.403																																						ENST00000304636.3																			1	Substitution - coding silent(1)	p.C1294C(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3880-3882)tgT>tgC		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						125.0	122.0	123.0					2																	189874962		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189874962T>C	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3882T>C	2.37:g.189874962T>C						COL3A1_ENST00000317840.5_Silent_p.C991C	p.C1294C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		49	4052	+			1294			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.3882T>C	CCDS2297.1																																																																																				0.403	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		45	132	0	0	0	1	0	45	132				
SPHKAP	80309	broad.mit.edu	37	2	228890232	228890232	+	Missense_Mutation	SNP	C	C	T	rs531679897		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:228890232C>T	ENST00000392056.3	-	5	365	c.319G>A	c.(319-321)Gtt>Att	p.V107I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V107I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	107						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V107I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGTGAAACGTTGACCAGT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		17888	0.0		0.0	False		,,,				2504	0.001					ENST00000392056.3																			2	Substitution - Missense(2)	p.V107I(2)	prostate(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(319-321)Gtt>Att		SPHK1 interactor, AKAP domain containing							109.0	105.0	106.0					2																	228890232		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228890232C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.319G>A	2.37:g.228890232C>T	ENSP00000375909:p.Val107Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V107I	p.V107I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	5	365	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	107					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.319G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492271	0.84962	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.18502	2.21;2.22	6.17	6.17	0.99709	.	0.056577	0.64402	D	0.000001	T	0.34454	0.0898	L	0.32530	0.975	0.52501	D	0.999951	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.704	T	0.00673	-1.1616	10	0.52906	T	0.07	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	107;107	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	107	ENSP00000375909:V107I;ENSP00000339886:V107I	ENSP00000339886:V107I	V	-	1	0	SPHKAP	228598476	0.981000	0.34729	0.976000	0.42696	0.854000	0.48673	2.544000	0.45761	2.941000	0.99782	0.655000	0.94253	GTT		0.348	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		28	151	0	0	0	1	0	28	151				
AHNAK2	113146	broad.mit.edu	37	14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:105406624C>G	ENST00000333244.5	-	7	15283	c.15164G>C	c.(15163-15165)gGg>gCg	p.G5055A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G25A(1)|p.G5055A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGCTACCCCCTGCTGTGGC	0.547																																						ENST00000333244.5																			2	Substitution - Missense(2)	p.G25A(1)|p.G5055A(1)	prostate(2)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15163-15165)gGg>gCg		AHNAK nucleoprotein 2							110.0	116.0	114.0					14																	105406624		2038	4188	6226	SO:0001583	missense	113146					nucleus		g.chr14:105406624C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15164G>C	14.37:g.105406624C>G	ENSP00000353114:p.Gly5055Ala					AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	p.G5055A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15283	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5055					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15164G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895810	0.17686	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03386	3.95;3.95	2.85	-5.69	0.02428	.	1.142550	0.07163	U	0.851034	T	0.02156	0.0067	L	0.27053	0.805	0.09310	N	1	B	0.24823	0.112	B	0.20184	0.028	T	0.48007	-0.9072	10	0.08599	T	0.76	.	5.4833	0.16735	0.0:0.2944:0.2543:0.4513	.	5055	Q8IVF2	AHNK2_HUMAN	A	53;5055	ENSP00000450998:G53A;ENSP00000353114:G5055A	ENSP00000353114:G5055A	G	-	2	0	AHNAK2	104477669	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.626000	0.05527	-1.784000	0.01272	-0.258000	0.10820	GGG		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	180	0	0	0	1	0	6	180				
MYO15A	51168	broad.mit.edu	37	17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:18052094C>T	ENST00000205890.5	+	33	7122	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2262C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGATGGCTGGCGCGGCTGGAC	0.602																																						ENST00000205890.5																			1	Substitution - Missense(1)	p.R2262C(1)	prostate(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6784-6786)Cgc>Tgc		myosin XVA							15.0	18.0	17.0					17																	18052094		2052	4194	6246	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052094C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6784C>T	17.37:g.18052094C>T	ENSP00000205890:p.Arg2262Cys						p.R2262C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			33	7122	+	all_neural(463;0.228)		2262			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6784C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130261	0.37630	.	.	ENSG00000091536	ENST00000205890	D	0.88818	-2.43	4.26	0.673	0.17941	.	.	.	.	.	D	0.93677	0.7980	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93662	0.6982	9	0.87932	D	0	.	13.6799	0.62476	0.6571:0.3429:0.0:0.0	.	2262	Q9UKN7	MYO15_HUMAN	C	2262	ENSP00000205890:R2262C	ENSP00000205890:R2262C	R	+	1	0	MYO15A	17992819	1.000000	0.71417	0.995000	0.50966	0.614000	0.37383	1.542000	0.36137	0.368000	0.24481	0.450000	0.29827	CGC		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	3	0	0	0	1	0	4	3				
DOCK11	139818	broad.mit.edu	37	X	117700566	117700566	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:117700566G>T	ENST00000276202.7	+	9	964	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.E301*|Y_RNA_ENST00000384135.1_RNA	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E301*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGAAAAGCCGAGAACATCAT	0.398																																						ENST00000276204.6																			1	Substitution - Nonsense(1)	p.E301*(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(901-903)Gag>Tag		dedicator of cytokinesis 11							154.0	119.0	130.0					X																	117700566		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117700566G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.901G>T	X.37:g.117700566G>T	ENSP00000276202:p.Glu301*					DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E301*	p.E301*			Q5JSL3	DOC11_HUMAN			9	975	+			301					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.901G>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981265	0.74474	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.42	4.55	0.56014	.	0.058953	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-23.3662	14.4524	0.67394	0.0:0.0:0.8517:0.1483	.	.	.	.	X	301	.	ENSP00000276202:E301X	E	+	1	0	DOCK11	117584594	1.000000	0.71417	0.801000	0.32222	0.001000	0.01503	8.709000	0.91379	1.043000	0.40175	-0.222000	0.12452	GAG		0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		3	40	1	0	0.115264	1	0.122292	3	40				
PRSS22	64063	broad.mit.edu	37	16	2903247	2903247	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:2903247G>A	ENST00000161006.3	-	6	866	c.801C>T	c.(799-801)gcC>gcT	p.A267A	PRSS22_ENST00000571228.1_Silent_p.A157A|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	267	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A267A(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TGTTGCGCTCGGCACAGCCCT	0.716																																						ENST00000161006.3																			1	Substitution - coding silent(1)	p.A267A(1)	prostate(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(799-801)gcC>gcT		protease, serine, 22							17.0	19.0	18.0					16																	2903247		2191	4284	6475	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903247G>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.801C>T	16.37:g.2903247G>A						PRSS22_ENST00000571228.1_Silent_p.A157A	p.A267A	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			6	866	-			267			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.801C>T	CCDS10481.1																																																																																				0.716	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		4	30	0	0	0	1	0	4	30				
SLIT1	6585	broad.mit.edu	37	10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T	rs375257308		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:98762741C>T	ENST00000266058.4	-	35	4119	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M	SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1292	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.V1292M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACATCCACGGGCATCCCT	0.627																																						ENST00000266058.4																			1	Substitution - Missense(1)	p.V1292M(1)	prostate(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3874-3876)Gtg>Atg		slit homolog 1 (Drosophila)							107.0	108.0	108.0					10																	98762741		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762741C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3874G>A	10.37:g.98762741C>T	ENSP00000266058:p.Val1292Met					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M	p.V1292M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	35	4119	-		Colorectal(252;0.162)	1292			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3874G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.814179	0.50527	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.77750	-1.12;-1.12	4.66	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.061196	0.64402	N	0.000004	T	0.80793	0.4691	L	0.41415	1.275	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.80369	-0.1411	10	0.45353	T	0.12	.	12.7571	0.57341	0.0:0.9193:0.0:0.0807	.	1292	O75093	SLIT1_HUMAN	M	1292	ENSP00000266058:V1292M;ENSP00000360109:V1292M	ENSP00000266058:V1292M	V	-	1	0	SLIT1	98752731	1.000000	0.71417	0.933000	0.37362	0.650000	0.38633	3.952000	0.56691	1.199000	0.43173	-0.215000	0.12644	GTG		0.627	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		10	159	0	0	0	1	0	10	159				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	3	0	0	0	1	0	2	3				
FBXW11	23291	broad.mit.edu	37	5	171299983	171299983	+	Silent	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:171299983C>A	ENST00000265094.5	-	9	1307	c.1170G>T	c.(1168-1170)acG>acT	p.T390T	FBXW11_ENST00000296933.6_Silent_p.T377T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000393802.2_Silent_p.T356T	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	390					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T390T(1)|p.T377T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGGTGCTCGTGCTCCAGA	0.418																																						ENST00000296933.6																			2	Substitution - coding silent(2)	p.T390T(1)|p.T377T(1)	prostate(2)	breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1129-1131)acG>acT		F-box and WD repeat domain containing 11							70.0	62.0	65.0					5																	171299983		2203	4300	6503	SO:0001819	synonymous_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171299983C>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1170G>T	5.37:g.171299983C>A						FBXW11_ENST00000265094.5_Silent_p.T390T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000393802.2_Silent_p.T356T	p.T377T	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1501	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	390					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	c.1131G>T	CCDS34289.1																																																																																				0.418	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		3	73	1	0	1	1	1	3	73				
KLK3	354	broad.mit.edu	37	19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:51361384T>G	ENST00000326003.2	+	3	347	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.D102E|KLK3_ENST00000593997.1_Missense_Mutation_p.D102E	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D102E(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGCTCTACGATATGAGCCTCC	0.577																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			2	Substitution - Missense(2)	p.D102E(2)	prostate(2)	breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(304-306)gaT>gaG		kallikrein-related peptidase 3							95.0	77.0	83.0					19																	51361384		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361384T>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.306T>G	19.37:g.51361384T>G	ENSP00000314151:p.Asp102Glu					KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E	p.D102E			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	306	+		all_neural(266;0.057)	102			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.306T>G	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	T	9.742	1.165259	0.21538	.	.	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.88586	-2.4;-2.4	2.31	-4.63	0.03359	.	0.367053	0.19735	N	0.107253	T	0.71651	0.3365	N	0.16066	0.365	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.19946	0.027;0.003	T	0.58662	-0.7597	10	0.87932	D	0	.	1.041	0.01559	0.1684:0.4007:0.166:0.2649	.	102;102	Q8NCW4;G3XAE3	.;.	E	102	ENSP00000314151:D102E;ENSP00000353829:D102E	ENSP00000314151:D102E	D	+	3	2	KLK3	56053196	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.388000	0.07352	-0.764000	0.04651	-1.393000	0.01150	GAT		0.577	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		27	33	0	0	0	1	0	27	33				
SPTA1	6708	broad.mit.edu	37	1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158615313C>A	ENST00000368147.4	-	28	4148	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1323					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTATGCCAGTTAAGTC	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3967-3969)gGc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							156.0	155.0	155.0					1																	158615313		2018	4159	6177	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615313C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3968G>T	1.37:g.158615313C>A	ENSP00000357129:p.Gly1323Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.G1323V	p.G1323V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			28	4148	-	all_hematologic(112;0.0378)		1323					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3968G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617115	0.87359	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	5.07	5.07	0.68467	.	.	.	.	.	T	0.67221	0.2870	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67511	-0.5652	9	0.35671	T	0.21	.	17.2029	0.86910	0.0:1.0:0.0:0.0	.	1323	P02549	SPTA1_HUMAN	V	1323	ENSP00000357130:G1323V;ENSP00000357129:G1323V	ENSP00000357129:G1323V	G	-	2	0	SPTA1	156881937	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.156000	0.58138	2.635000	0.89317	0.655000	0.94253	GGC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	181	1	0	0.00909568	1	0.00989155	4	181				
MAP6	4135	broad.mit.edu	37	11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:75316878T>G	ENST00000304771.3	-	3	2041	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_ENST00000434603.2_Missense_Mutation_p.N431H|MAP6_ENST00000526740.1_Missense_Mutation_p.N102H	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	431					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.N431H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000434603.2																			1	Substitution - Missense(1)	p.N431H(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1291-1293)Aac>Cac		microtubule-associated protein 6							166.0	139.0	148.0					11																	75316878		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316878T>G	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1291A>C	11.37:g.75316878T>G	ENSP00000307093:p.Asn431His					MAP6_ENST00000304771.3_Missense_Mutation_p.N431H|MAP6_ENST00000526740.1_Missense_Mutation_p.N102H	p.N431H	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN			3	1355	-	Ovarian(111;0.11)		431					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1291A>C	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410650	0.83340	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.53423	0.62;0.7	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000073	T	0.61937	0.2387	M	0.64997	1.995	0.46241	D	0.998942	D	0.89917	1.0	D	0.69142	0.962	T	0.57670	-0.7771	10	0.15499	T	0.54	-21.1195	14.5299	0.67917	0.0:0.0:0.0:1.0	.	431	Q96JE9	MAP6_HUMAN	H	431;102;102;431	ENSP00000307093:N431H;ENSP00000415108:N431H	ENSP00000307093:N431H	N	-	1	0	MAP6	74994526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.162000	0.67917	0.533000	0.62120	AAC		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		5	257	0	0	0	1	0	5	257				
SFR1	119392	broad.mit.edu	37	10	105882676	105882676	+	Intron	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:105882676T>C	ENST00000369727.3	+	2	32				SFR1_ENST00000369729.3_Intron|SFR1_ENST00000463224.1_Intron|SFR1_ENST00000336358.5_Silent_p.Y51Y	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1						double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AAGTCGACTATAGAGAGGTGT	0.318																																						ENST00000336358.5																			0											c.(151-153)taT>taC		SWI5-dependent recombination repair 1							14.0	16.0	15.0					10																	105882676		2182	4291	6473	SO:0001627	intron_variant	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105882676T>C	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.14-47T>C	10.37:g.105882676T>C						SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369727.3_Intron|SFR1_ENST00000369729.3_Intron	p.Y51Y			Q86XK3	SFR1_HUMAN			1	672	+			0					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Silent	SNP	ENST00000369727.3	37	c.153T>C	CCDS31279.1																																																																																				0.318	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		14	49	0	0	0	1	0	14	49				
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	rs587777893		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																						ENST00000361445.4																			3	Substitution - Missense(3)	p.T1977R(2)|p.T1977K(1)	kidney(2)|prostate(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5929-5931)aCa>aGa		mechanistic target of rapamycin (serine/threonine kinase)							117.0	121.0	120.0					1																	11188164		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11188164G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>G	1.37:g.11188164G>C	ENSP00000354558:p.Thr1977Arg					MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	p.T1977R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			43	6006	-			1977			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5930C>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659586	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.92373	0.5907	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	R	1977;182	ENSP00000354558:T1977R;ENSP00000366034:T182R	ENSP00000354558:T1977R	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		10	112	0	0	0	1	0	10	112				
PSRC1	84722	broad.mit.edu	37	1	109824423	109824423	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:109824423G>A	ENST00000438534.2	-	4	475	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	PSRC1_ENST00000409267.1_Missense_Mutation_p.R113W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)	p.R113W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GTCTCCCGCCGAGGACTGGGC	0.672																																						ENST00000438534.2																			1	Substitution - Missense(1)	p.R113W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(337-339)Cgg>Tgg		proline/serine-rich coiled-coil 1							42.0	45.0	44.0					1																	109824423		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824423G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.337C>T	1.37:g.109824423G>A	ENSP00000413591:p.Arg113Trp					PSRC1_ENST00000369904.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R113W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113W	p.R113W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	475	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	113			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.337C>T		.	.	.	.	.	.	.	.	.	.	G	26.1	4.703464	0.88924	.	.	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.74	4.79	0.61399	.	0.000000	0.53938	D	0.000049	T	0.67211	0.2869	L	0.50333	1.59	0.43583	D	0.995929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.69555	-0.5114	10	0.72032	D	0.01	-2.2947	12.1921	0.54277	0.0:0.0:0.8307:0.1693	.	113;113;113	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	W	113	ENSP00000386323:R113W;ENSP00000358923:R113W;ENSP00000413591:R113W;ENSP00000358925:R113W;ENSP00000358919:R113W	ENSP00000358919:R113W	R	-	1	2	PSRC1	109625946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.818000	0.39012	2.716000	0.92895	0.561000	0.74099	CGG		0.672	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		38	41	0	0	0	1	0	38	41				
NXNL1	115861	broad.mit.edu	37	19	17571713	17571713	+	De_novo_Start_InFrame	SNP	G	G	A	rs200603341	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:17571713G>A	ENST00000301944.2	-	0	50				CTD-2521M24.10_ENST00000594663.1_5'Flank	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1						photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ACAGCGCGGCGTGTGGTCCCC	0.562													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17767	0.001		0.0	False		,,,				2504	0.001					ENST00000301944.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6								nucleoredoxin-like 1							26.0	28.0	28.0					19																	17571713		2202	4300	6502			115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571713G>A	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798		19.37:g.17571713G>A								NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN			0	50	-								Q0QD37	Translation_Start_Site	SNP	ENST00000301944.2	37		CCDS12360.1																																																																																				0.562	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		9	27	0	0	0	1	0	9	27				
ZNF276	92822	broad.mit.edu	37	16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:89804607C>T	ENST00000443381.2	+	11	1895	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	ZNF276_ENST00000289816.5_Missense_Mutation_p.P525S|ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P525S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCACCGAGCCCCTCTGTGAC	0.647																																						ENST00000289816.5																			1	Substitution - Missense(1)	p.P525S(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1573-1575)Ccc>Tcc		zinc finger protein 276							21.0	18.0	19.0					16																	89804607		2195	4296	6491	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804607C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1798C>T	16.37:g.89804607C>T	ENSP00000415836:p.Pro600Ser					ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000568064.1_3'UTR|FANCA_ENST00000389301.3_3'UTR	p.P525S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1885	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	600					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1573C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798946	0.31777	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06142	3.34;3.35;3.4	4.03	0.877	0.19145	.	0.423705	0.25411	N	0.030878	T	0.02807	0.0084	N	0.24115	0.695	0.09310	N	0.999998	B;B;B	0.26935	0.001;0.164;0.004	B;B;B	0.19946	0.001;0.027;0.001	T	0.42816	-0.9429	10	0.10111	T	0.7	-5.4001	1.6383	0.02747	0.1524:0.3617:0.2981:0.1878	.	438;600;386	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	S	386;525;600	ENSP00000415999:P386S;ENSP00000289816:P525S;ENSP00000415836:P600S	ENSP00000289816:P525S	P	+	1	0	ZNF276	88332108	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.315000	0.08081	-0.095000	0.12351	0.561000	0.74099	CCC		0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		3	8	0	0	0	1	0	3	8				
CACNA1A	773	broad.mit.edu	37	19	13410024	13410024	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:13410024G>A	ENST00000360228.5	-	19	2422	c.2423C>T	c.(2422-2424)aCg>aTg	p.T808M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	809					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.T809M(3)|p.T808M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGTGCCGCGTGTAGGCAGC	0.642																																						ENST00000360228.5																			4	Substitution - Missense(4)	p.T809M(3)|p.T808M(1)	prostate(4)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2422-2424)aCg>aTg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						47.0	54.0	52.0					19																	13410024		2037	4162	6199	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13410024G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2423C>T	19.37:g.13410024G>A	ENSP00000353362:p.Thr808Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	p.T808M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2422	-			809					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2423C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	1.662	-0.511323	0.04231	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.99	1.56	0.23342	.	1.904990	0.03030	N	0.151895	D	0.91157	0.7215	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46064	0.474;0.872;0.798	B;B;B	0.37480	0.058;0.251;0.128	D	0.84855	0.0816	10	0.72032	D	0.01	.	10.4736	0.44652	0.0:0.5243:0.4756:0.0	.	809;812;808	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	808;812;809;809	ENSP00000353362:T808M	ENSP00000317661:T809M	T	-	2	0	CACNA1A	13271024	0.167000	0.22975	0.052000	0.19188	0.010000	0.07245	1.666000	0.37460	0.847000	0.35167	0.555000	0.69702	ACG		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	48	0	0	0	1	0	3	48				
DGKI	9162	broad.mit.edu	37	7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:137082144A>T	ENST00000288490.5	-	32	2960	c.2960T>A	c.(2959-2961)tTg>tAg	p.L987*	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Nonsense_Mutation_p.L656*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	987					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L987*(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCCATATCCAATAACTCGGA	0.333																																						ENST00000453654.1																			1	Substitution - Nonsense(1)	p.L987*(1)	prostate(1)	breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1966-1968)tTg>tAg		diacylglycerol kinase, iota							104.0	99.0	101.0					7																	137082144		2203	4299	6502	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137082144A>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2960T>A	7.37:g.137082144A>T	ENSP00000288490:p.Leu987*					DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*	p.L656*			O75912	DGKI_HUMAN			31	2506	-			987					A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	c.1967T>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	44	10.721610	0.99456	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9025	0.58133	1.0:0.0:0.0:0.0	.	.	.	.	X	656;904;990;987;969	.	ENSP00000288490:L987X	L	-	2	0	DGKI	136732684	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.953000	0.70290	2.039000	0.60335	0.533000	0.62120	TTG		0.333	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		7	165	0	0	0	1	0	7	165				
TNXB	7148	broad.mit.edu	37	6	32053832	32053832	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:32053832G>A	ENST00000375244.3	-	7	3044	c.2843C>T	c.(2842-2844)aCg>aTg	p.T948M	TNXB_ENST00000375247.2_Missense_Mutation_p.T948M			P22105	TENX_HUMAN	tenascin XB	1035	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T1035M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCCTTGCGTCGTCGAGGG	0.662																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.T1035M(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2842-2844)aCg>aTg		tenascin XB							12.0	14.0	13.0					6																	32053832		1190	2512	3702	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053832G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2843C>T	6.37:g.32053832G>A	ENSP00000364393:p.Thr948Met					TNXB_ENST00000375247.2_Missense_Mutation_p.T948M	p.T948M			P22105	TENX_HUMAN			7	3044	-			1035			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.2843C>T		.	.	.	.	.	.	.	.	.	.	G	16.99	3.274910	0.59649	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.62;0.46	3.82	3.82	0.43975	.	0.000000	0.47852	D	0.000219	T	0.46132	0.1377	L	0.27053	0.805	0.31956	N	0.608996	D	0.89917	1.0	D	0.91635	0.999	T	0.47586	-0.9106	10	0.52906	T	0.07	.	11.1378	0.48386	0.0:0.0:1.0:0.0	.	948	P22105-3	.	M	948	ENSP00000364393:T948M;ENSP00000364396:T948M	ENSP00000364393:T948M	T	-	2	0	TNXB	32161810	1.000000	0.71417	0.749000	0.31150	0.883000	0.51084	4.631000	0.61304	1.980000	0.57719	0.558000	0.71614	ACG		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	5	0	0	0	1	0	4	5				
RABAC1	10567	broad.mit.edu	37	19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:42463023C>A	ENST00000222008.6	-	2	231	c.134G>T	c.(133-135)tGg>tTg	p.W45L	RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L|RABAC1_ENST00000601078.1_5'UTR	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	45	Required for interaction with prenylated RAB3A and VAMP2. {ECO:0000250}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)	p.W45L(1)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGGTGCTCCAGGGCCGGAT	0.692																																						ENST00000222008.6																			1	Substitution - Missense(1)	p.W45L(1)	prostate(1)	central_nervous_system(1)|kidney(1)|prostate(1)	3						c.(133-135)tGg>tTg		Rab acceptor 1 (prenylated)							39.0	34.0	36.0					19																	42463023		2199	4297	6496	SO:0001583	missense	10567					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding	g.chr19:42463023C>A	AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"""PRA1 domain family 1"", ""prenylated Rab acceptor 1"""	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.134G>T	19.37:g.42463023C>A	ENSP00000222008:p.Trp45Leu					RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L	p.W45L	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN			2	231	-			45			Required for interaction with prenylated RAB3A and VAMP2 (By similarity).		Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	ENST00000222008.6	37	c.134G>T	CCDS12593.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219164	0.79464	.	.	ENSG00000105404	ENST00000222008	T	0.46063	0.88	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.42529	1.33	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.46062	-0.9218	10	0.30078	T	0.28	2.3525	14.7269	0.69351	0.0:1.0:0.0:0.0	.	45	Q9UI14	PRAF1_HUMAN	L	45	ENSP00000222008:W45L	ENSP00000222008:W45L	W	-	2	0	RABAC1	47154863	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	6.732000	0.74790	2.413000	0.81919	0.561000	0.74099	TGG		0.692	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		2	3	1	0	1	1	1	2	3				
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1			keratin 25									p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562																																						ENST00000312150.4																			1	Substitution - Missense(1)	p.A339V(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gCg>gTg		keratin 25							138.0	140.0	139.0					17																	38906791		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906791G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1016C>T	17.37:g.38906791G>A	ENSP00000310573:p.Ala339Val						p.A339V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1076	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1016C>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629144	0.67015	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88896	-2.44	5.52	5.52	0.82312	Filament (1);	0.213774	0.33040	N	0.005356	D	0.86012	0.5831	L	0.45352	1.415	0.09310	N	1	P	0.43542	0.81	B	0.40444	0.329	T	0.82354	-0.0499	10	0.72032	D	0.01	.	15.7677	0.78141	0.0:0.0:0.8633:0.1367	.	339	Q7Z3Z0	K1C25_HUMAN	V	268;339	ENSP00000310573:A339V	ENSP00000310573:A339V	A	-	2	0	KRT25	36160317	0.243000	0.23878	0.929000	0.37066	0.713000	0.41058	3.072000	0.50049	2.566000	0.86566	0.655000	0.94253	GCG		0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		7	349	0	0	0	1	0	7	349				
MPDZ	8777	broad.mit.edu	37	9	13190228	13190228	+	Missense_Mutation	SNP	G	G	A	rs370396750		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr9:13190228G>A	ENST00000319217.7	-	16	2286	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	MPDZ_ENST00000447879.1_Missense_Mutation_p.A680V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A680V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A680V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A680V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A680V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	680					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.A680V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCTGACCCGCATCAGTCAT	0.502																																						ENST00000319217.7																			2	Substitution - Missense(2)	p.A680V(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2038-2040)gCg>gTg		multiple PDZ domain protein		G	VAL/ALA	0,4150		0,0,2075	79.0	75.0	76.0		2039	0.8	0.0	9	dbSNP_134	76	1,8443		0,1,4221	no	missense	MPDZ	NM_003829.3	64	0,1,6296	AA,AG,GG		0.0118,0.0,0.0079	benign	680/2042	13190228	1,12593	2075	4222	6297	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190228G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2039C>T	9.37:g.13190228G>A	ENSP00000320006:p.Ala680Val					MPDZ_ENST00000541718.1_Missense_Mutation_p.A680V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A680V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A680V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A680V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A680V	p.A680V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2286	-			680					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.2039C>T		.	.	.	.	.	.	.	.	.	.	G	4.249	0.045155	0.08196	0.0	1.18E-4	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.86;2.81;2.81;2.81;2.86;2.86;2.86	5.83	0.843	0.18935	.	0.559781	0.14821	N	0.296472	T	0.02888	0.0086	N	0.01576	-0.805	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43442	-0.9391	10	0.26408	T	0.33	.	2.2097	0.03945	0.5653:0.106:0.1339:0.1949	.	680;680;680	B7ZMI4;O75970-3;O75970-2	.;.;.	V	680	ENSP00000320006:A680V;ENSP00000439807:A680V;ENSP00000370410:A680V;ENSP00000444151:A680V;ENSP00000415208:A680V;ENSP00000370403:A680V;ENSP00000446358:A680V	ENSP00000320006:A680V	A	-	2	0	MPDZ	13180228	0.001000	0.12720	0.046000	0.18839	0.008000	0.06430	0.765000	0.26546	-0.086000	0.12550	-1.099000	0.02127	GCG		0.502	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		3	55	0	0	0	1	0	3	55				
RYR2	6262	broad.mit.edu	37	1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:237969520C>A	ENST00000366574.2	+	99	14552	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E|RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4745					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D4745E(1)|p.D4743E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCTCGACATTGCTATGG	0.393																																						ENST00000366574.2																			2	Substitution - Missense(2)	p.D4745E(1)|p.D4743E(1)	prostate(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14233-14235)gaC>gaA		ryanodine receptor 2 (cardiac)							196.0	175.0	181.0					1																	237969520		1891	4113	6004	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969520C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14235C>A	1.37:g.237969520C>A	ENSP00000355533:p.Asp4745Glu					RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E|RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E	p.D4745E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14552	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4745					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14235C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321723	0.81580	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98362	-4.89;-4.89;-4.89	5.43	3.53	0.40419	Ion transport (1);	0.000000	0.64402	U	0.000005	D	0.98551	0.9516	M	0.77616	2.38	0.49687	D	0.999814	D;D	0.64830	0.994;0.992	P;D	0.79108	0.873;0.992	D	0.98988	1.0807	10	0.87932	D	0	.	10.1785	0.42952	0.0:0.7859:0.0:0.2141	.	178;4745	F5H3C7;Q92736	.;RYR2_HUMAN	E	4745;4751;4729;178	ENSP00000355533:D4745E;ENSP00000353174:D4751E;ENSP00000443798:D4729E	ENSP00000353174:D4751E	D	+	3	2	RYR2	236036143	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.727000	0.25999	1.431000	0.47355	0.655000	0.94253	GAC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		27	77	1	0	2.48779e-11	1	2.81089e-11	27	77				
NCOR1	9611	broad.mit.edu	37	17	15976858	15976858	+	Silent	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:15976858A>C	ENST00000268712.3	-	28	3953	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1232	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.T1232T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGGACTCCTAGTCCCTTCTC	0.393																																						ENST00000268712.3																			1	Substitution - coding silent(1)	p.T1232T(1)	prostate(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3694-3696)acT>acG		nuclear receptor corepressor 1							117.0	102.0	107.0					17																	15976858		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15976858A>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3696T>G	17.37:g.15976858A>C						NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	p.T1232T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	28	3953	-			1232			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3696T>G	CCDS11175.1																																																																																				0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		10	131	0	0	0	1	0	10	131				
FZD1	8321	broad.mit.edu	37	7	90895231	90895231	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:90895231C>T	ENST00000287934.2	+	1	1449	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	346					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R346W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGGACATGCGGCGCTTCAG	0.637																																						ENST00000287934.2																			1	Substitution - Missense(1)	p.R346W(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1036-1038)Cgg>Tgg		frizzled family receptor 1							99.0	94.0	96.0					7																	90895231		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895231C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1036C>T	7.37:g.90895231C>T	ENSP00000287934:p.Arg346Trp						p.R346W	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1449	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		346					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1036C>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028428	0.54790	.	.	ENSG00000157240	ENST00000287934	D	0.82893	-1.66	4.5	2.6	0.31112	GPCR, family 2-like (1);	0.168378	0.27331	N	0.019852	D	0.88028	0.6327	M	0.72118	2.19	0.39927	D	0.974235	D	0.76494	0.999	P	0.61658	0.892	D	0.88495	0.3078	10	0.87932	D	0	.	12.1765	0.54188	0.6509:0.349:0.0:0.0	.	346	Q9UP38	FZD1_HUMAN	W	346	ENSP00000287934:R346W	ENSP00000287934:R346W	R	+	1	2	FZD1	90733167	0.627000	0.27129	1.000000	0.80357	0.992000	0.81027	-0.101000	0.10973	0.466000	0.27193	0.407000	0.27541	CGG		0.637	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		5	179	0	0	0	1	0	5	179				
AC009229.5	0	broad.mit.edu	37	2	38456196	38456196	+	lincRNA	DEL	A	A	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:38456196delA	ENST00000450854.1	-	0	533																											tacccaacttaaaaaaaaaaa	0.408																																						ENST00000450854.1																			0																																																			0							g.chr2:38456196delA																													2.37:g.38456196delA														0	533	-									RNA	DEL	ENST00000450854.1	37																																																																																						0.408	AC009229.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000325655.2			3	6						3	6	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					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)			TGAGAGAAACTTTTTTTGCCT	0.393									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.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	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.chr7:33312723delT		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.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			8	458						8	458	---	---	---	---
TBC1D3P5	440419	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GACGCTGTTCTTttttttttt	0.453																																						ENST00000586223.1																			0																																																			0							g.chr17:25754047delT			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25754047delT								NR_033892.1						0	1595	+									RNA	DEL	ENST00000586223.1	37																																																																																						0.453	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		2	4						2	4	---	---	---	---
