#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
MTF1	4520	broad.mit.edu	37	1	38297931	38297931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:38297931C>G	ENST00000373036.4	-	7	1194	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	352					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGAATTTTCTCGCAATTCA	0.393																																						uc001cce.1																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1054-1056)Gaa>Caa		Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.							110.0	103.0	105.0					1																	38297931		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38297931C>G	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1054G>C	1.37:g.38297931C>G	ENSP00000362127:p.Glu352Gln					MTF1_uc009vvj.1_Missense_Mutation_p.E43Q	p.E352Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN			6	1195	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	352					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1054G>C	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734275	0.89482	.	.	ENSG00000188786	ENST00000373036	T	0.10192	2.9	5.23	5.23	0.72850	.	0.048902	0.85682	D	0.000000	T	0.19565	0.0470	M	0.70275	2.135	0.53688	D	0.999979	P	0.45348	0.856	B	0.43623	0.425	T	0.01587	-1.1318	10	0.38643	T	0.18	.	18.8263	0.92121	0.0:1.0:0.0:0.0	.	352	Q14872	MTF1_HUMAN	Q	352	ENSP00000362127:E352Q	ENSP00000362127:E352Q	E	-	1	0	MTF1	38070518	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.121000	0.77160	2.453000	0.82957	0.561000	0.74099	GAA		0.393	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
BSND	7809	broad.mit.edu	37	1	55470704	55470704	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:55470704G>A	ENST00000371265.4	+	2	441	c.187G>A	c.(187-189)Gtc>Atc	p.V63I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	63					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GATCACCTTCGTCCCTGCTGA	0.582																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(187-189)Gtc>Atc		Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.							118.0	97.0	104.0					1																	55470704		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55470704G>A	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.187G>A	1.37:g.55470704G>A	ENSP00000360312:p.Val63Ile						p.V63I	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			1	430	+			63					Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.187G>A	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222729	0.22457	.	.	ENSG00000162399	ENST00000371265	T	0.69435	-0.4	4.08	0.995	0.19838	.	0.334361	0.19180	N	0.120716	T	0.41971	0.1182	N	0.16743	0.435	0.09310	N	0.999992	B	0.22983	0.078	B	0.15052	0.012	T	0.19224	-1.0312	10	0.13853	T	0.58	-6.415	7.5147	0.27593	0.194:0.0:0.806:0.0	.	63	Q8WZ55	BSND_HUMAN	I	63	ENSP00000360312:V63I	ENSP00000360312:V63I	V	+	1	0	BSND	55243292	0.001000	0.12720	0.083000	0.20561	0.810000	0.45777	-0.165000	0.09968	-0.019000	0.14055	0.297000	0.19635	GTC		0.582	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176	
HFM1	164045	broad.mit.edu	37	1	91840986	91840986	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:91840986C>T	ENST00000370425.3	-	13	1712	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Silent_p.K217K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	538	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGCACACCCTTCCTTGTTG	0.308																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1612-1614)aaG>aaA		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							75.0	71.0	72.0					1																	91840986		1827	4080	5907	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91840986C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1614G>A	1.37:g.91840986C>T						HFM1_uc010osu.2_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K	p.K538K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1713	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	538			Helicase C-terminal.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1614G>A	CCDS30769.2																																																																																				0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
TCHH	7062	broad.mit.edu	37	1	152083402	152083402	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:152083402C>G	ENST00000368804.1	-	2	2290	c.2291G>C	c.(2290-2292)cGc>cCc	p.R764P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	764					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCCCGGCGCTGCTCCTC	0.682																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2290-2292)cGc>cCc		Homo sapiens trichohyalin (TCHH), mRNA.							51.0	65.0	60.0					1																	152083402		2047	4204	6251	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083402C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2291G>C	1.37:g.152083402C>G	ENSP00000357794:p.Arg764Pro					TCHH_uc001ezp.2_Missense_Mutation_p.R764P	p.R764P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2563	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		764					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2291G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.900	0.956034	0.18507	.	.	ENSG00000159450	ENST00000368804	T	0.07688	3.17	4.61	3.59	0.41128	.	.	.	.	.	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.63597	0.916	T	0.38178	-0.9673	9	0.35671	T	0.21	.	12.9036	0.58139	0.1743:0.8257:0.0:0.0	.	764	Q07283	TRHY_HUMAN	P	764	ENSP00000357794:R764P	ENSP00000357794:R764P	R	-	2	0	TCHH	150350026	0.000000	0.05858	0.555000	0.28281	0.725000	0.41563	-0.011000	0.12721	2.096000	0.63516	0.457000	0.33378	CGC		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
NCF2	4688	broad.mit.edu	37	1	183546838	183546838	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:183546838C>A	ENST00000367535.3	-	3	513	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	NCF2_ENST00000367536.1_Missense_Mutation_p.D88Y|NCF2_ENST00000413720.1_Missense_Mutation_p.D88Y|NCF2_ENST00000418089.1_Missense_Mutation_p.D88Y	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	88					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ATAGCCAAATCATATCTGCAG	0.443																																						uc001gqj.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(262-264)Gat>Tat		Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.							79.0	78.0	78.0					1																	183546838		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546838C>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.262G>T	1.37:g.183546838C>A	ENSP00000356505:p.Asp88Tyr					NCF2_uc010pod.2_Missense_Mutation_p.D88Y|NCF2_uc010poe.2_Missense_Mutation_p.D88Y|NCF2_uc001gqk.4_Missense_Mutation_p.D88Y	p.D88Y	NM_000433	NP_001121123	P19878	NCF2_HUMAN			2	537	-			88					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.262G>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560841	0.45590	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.491876	0.25083	N	0.033268	T	0.70727	0.3257	L	0.46157	1.445	0.35124	D	0.76736	D;D;D	0.76494	0.999;0.991;0.977	D;D;P	0.73380	0.98;0.92;0.873	T	0.77950	-0.2395	10	0.87932	D	0	0.5099	16.6438	0.85155	0.0:1.0:0.0:0.0	.	88;88;88	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	Y	88;116;88;88;88	ENSP00000356506:D88Y;ENSP00000399294:D88Y;ENSP00000407217:D88Y;ENSP00000356505:D88Y	ENSP00000356505:D88Y	D	-	1	0	NCF2	181813461	0.981000	0.34729	0.890000	0.34922	0.077000	0.17291	4.896000	0.63222	2.669000	0.90835	0.655000	0.94253	GAT		0.443	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433	
OBSCN	84033	broad.mit.edu	37	1	228505193	228505193	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:228505193G>T	ENST00000422127.1	+	52	13634	c.13590G>T	c.(13588-13590)gaG>gaT	p.E4530D	OBSCN_ENST00000570156.2_Missense_Mutation_p.E5487D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4530D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1649D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2164D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4530	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGATGCTGAGGTGGTGGCTC	0.647																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13588-13590)gaG>gaT		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							29.0	32.0	31.0					1																	228505193		2023	4193	6216	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505193G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13590G>T	1.37:g.228505193G>T	ENSP00000409493:p.Glu4530Asp					OBSCN_uc001hsn.3_Missense_Mutation_p.E4530D	p.E4530D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			51	13634	+		Prostate(94;0.0405)	4530			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13590G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	14.54	2.566057	0.45694	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.42	-2.34	0.06704	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.075146	0.52532	D	0.000072	T	0.60534	0.2276	L	0.58510	1.815	0.25087	N	0.990887	D;D	0.71674	0.998;0.988	D;P	0.71870	0.975;0.829	T	0.58808	-0.7571	10	0.18710	T	0.47	.	13.1556	0.59516	0.6019:0.0:0.3981:0.0	.	4530;4530	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	4530;4530;2164;1649	ENSP00000284548:E4530D;ENSP00000409493:E4530D;ENSP00000355668:E2164D;ENSP00000355670:E1649D	ENSP00000284548:E4530D	E	+	3	2	OBSCN	226571816	0.999000	0.42202	0.398000	0.26321	0.253000	0.25986	0.475000	0.22164	-1.111000	0.02988	-1.676000	0.00740	GAG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
CAMK1D	57118	broad.mit.edu	37	10	12802954	12802954	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:12802954G>A	ENST00000378847.3	+	4	644	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G103S	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGGGTGTCCGGTGGAGAGCT	0.443																																						uc001ilo.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(307-309)Ggt>Agt		Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.							107.0	105.0	106.0					10																	12802954		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12802954G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.307G>A	10.37:g.12802954G>A	ENSP00000368124:p.Gly103Ser					CAMK1D_uc001iln.3_Missense_Mutation_p.G103S	p.G103S	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	3	542	+			103			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.307G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150507	0.78001	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.51071	0.72;0.72	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78597	-0.2142	10	0.87932	D	0	-19.4563	18.8366	0.92165	0.0:0.0:1.0:0.0	.	103;103	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	S	103	ENSP00000368124:G103S;ENSP00000368122:G103S	ENSP00000368122:G103S	G	+	1	0	CAMK1D	12842960	1.000000	0.71417	0.970000	0.41538	0.158000	0.22134	9.869000	0.99810	2.684000	0.91462	0.655000	0.94253	GGT		0.443	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	
C10orf76	79591	broad.mit.edu	37	10	103716424	103716424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:103716424delG	ENST00000370033.4	-	22	1754	c.1635delC	c.(1633-1635)cccfs	p.P545fs		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	545						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATAGCTGCTGGGGGTTGGCA	0.408																																						uc009xwy.1																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1633-1635)cccfs		Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.							104.0	102.0	103.0					10																	103716424		1886	4110	5996	SO:0001589	frameshift_variant	79591					integral to membrane		g.chr10:103716424delG	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1635delC	10.37:g.103716424delG	ENSP00000359050:p.Pro545fs					C10orf76_uc009xwx.1_Non-coding_Transcript	p.P545fs	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	21	1737	-		Colorectal(252;0.123)	545					Q2TB87|Q9H8Z9	Frame_Shift_Del	DEL	ENST00000370033.4	37	c.1635delC	CCDS41563.1																																																																																				0.408	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	
OR52M1	119772	broad.mit.edu	37	11	4566796	4566796	+	Missense_Mutation	SNP	G	G	A	rs61751910	byFrequency	TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:4566796G>A	ENST00000360213.1	+	1	376	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCGCTACGTGGCCATCTG	0.527													G|||	6	0.00119808	0.0045	0.0	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.0					uc010qyf.2																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(376-378)Gtg>Atg		Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.		G	MET/VAL	12,4390	19.1+/-41.9	0,12,2189	141.0	124.0	130.0		376	3.1	0.7	11	dbSNP_129	130	0,8596		0,0,4298	yes	missense	OR52M1	NM_001004137.1	21	0,12,6487	AA,AG,GG		0.0,0.2726,0.0923	benign	126/318	4566796	12,12986	2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566796G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.376G>A	11.37:g.4566796G>A	ENSP00000353343:p.Val126Met						p.V126M	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	376	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	126						Missense_Mutation	SNP	ENST00000360213.1	37	c.376G>A	CCDS31353.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.336	0.827609	0.16749	0.002726	0.0	ENSG00000197790	ENST00000360213	T	0.20463	2.07	4.98	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000663	T	0.26738	0.0654	M	0.86953	2.85	0.36154	D	0.847649	P	0.35107	0.484	B	0.26770	0.073	T	0.41805	-0.9488	10	0.72032	D	0.01	.	10.9867	0.47526	0.1557:0.0:0.8443:0.0	rs61751910	126	Q8NGK5	O52M1_HUMAN	M	126	ENSP00000353343:V126M	ENSP00000353343:V126M	V	+	1	0	OR52M1	4523372	0.021000	0.18746	0.658000	0.29665	0.074000	0.17049	0.198000	0.17217	0.809000	0.34255	-0.143000	0.13931	GTG		0.527	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137	
GLYAT	10249	broad.mit.edu	37	11	58478160	58478160	+	Missense_Mutation	SNP	G	G	A	rs200442404	byFrequency	TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:58478160G>A	ENST00000344743.3	-	5	532	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R131C|GLYAT_ENST00000278400.3_Missense_Mutation_p.R131C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	131					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.R131C(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAGAGAATGCGTTGTGTTTGT	0.428													G|||	11	0.00219649	0.0	0.0	5008	,	,		20019	0.0		0.0	False		,,,				2504	0.0112					uc001nnb.3																			1	Substitution - Missense(1)	p.R131C(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(391-393)Cgc>Tgc		Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)						172.0	155.0	161.0					11																	58478160		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58478160G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.391C>T	11.37:g.58478160G>A	ENSP00000340200:p.Arg131Cys					GLYAT_uc001nnc.3_Missense_Mutation_p.R131C	p.R131C	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			4	546	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	131					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.391C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419945	0.25552	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.16743	2.32;2.32;2.32	5.88	-11.8	0.00035	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.761000	0.02153	N	0.058160	T	0.03739	0.0106	N	0.01122	-1.005	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33394	-0.9870	10	0.22706	T	0.39	-0.0383	4.6346	0.12518	0.1113:0.0801:0.2257:0.5829	.	131;131	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	C	131	ENSP00000340200:R131C;ENSP00000431688:R131C;ENSP00000278400:R131C	ENSP00000278400:R131C	R	-	1	0	GLYAT	58234736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.479000	0.02327	-1.461000	0.01909	-1.147000	0.01851	CGC		0.428	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1		
GPR83	10888	broad.mit.edu	37	11	94113665	94113665	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:94113665G>A	ENST00000243673.2	-	4	1093	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	GPR83_ENST00000539203.2_Missense_Mutation_p.L266F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	308					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGCAGTTGAGGGGGAACCAG	0.532																																						uc001pet.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(922-924)Ctc>Ttc		Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.							146.0	106.0	119.0					11																	94113665		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113665G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.922C>T	11.37:g.94113665G>A	ENSP00000243673:p.Leu308Phe						p.L308F	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			3	1094	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	308					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.922C>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850153	0.71719	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.71579	-0.58;-0.58	5.49	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	L	0.45744	1.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72620	-0.4238	10	0.36615	T	0.2	.	7.4187	0.27059	0.2223:0.0:0.7777:0.0	.	308	Q9NYM4	GPR83_HUMAN	F	308;266	ENSP00000243673:L308F;ENSP00000441550:L266F	ENSP00000243673:L308F	L	-	1	0	GPR83	93753313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.297000	0.59061	2.570000	0.86706	0.655000	0.94253	CTC		0.532	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540	
MPZL2	10205	broad.mit.edu	37	11	118133277	118133277	+	Silent	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:118133277G>A	ENST00000278937.2	-	3	440	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MPZL2_ENST00000438295.2_Silent_p.Y104Y|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	104	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGGAGGCATCGTACCGCTCAG	0.527																																						uc001psn.3																			0		p.R103Q(1)|p.Y104H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(310-312)taC>taT		Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.							137.0	103.0	115.0					11																	118133277		2200	4296	6496	SO:0001819	synonymous_variant	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133277G>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.312C>T	11.37:g.118133277G>A						MPZL2_uc001pso.3_Silent_p.Y104Y	p.Y104Y	NM_005797	NP_658911	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	695	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	104			Ig-like V-type.		A8K2R1	Silent	SNP	ENST00000278937.2	37	c.312C>T	CCDS8393.1																																																																																				0.527	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797	
FLI1	2313	broad.mit.edu	37	11	128680531	128680531	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:128680531G>T	ENST00000527786.2	+	9	1496	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	FLI1_ENST00000534087.2_Missense_Mutation_p.S303I|FLI1_ENST00000525560.1_Missense_Mutation_p.S143I|FLI1_ENST00000344954.6_Missense_Mutation_p.S303I|FLI1_ENST00000281428.8_Missense_Mutation_p.S270I	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	336					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GACAAGCTGAGCCGGGCCCTC	0.522			T	EWSR1	Ewing sarcoma																																	uc010sbu.2				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1006-1008)aGc>aTc		Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.							41.0	47.0	45.0					11																	128680531		2198	4296	6494	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680531G>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1007G>T	11.37:g.128680531G>T	ENSP00000433488:p.Ser336Ile					FLI1_uc010sbt.2_Missense_Mutation_p.S143I|FLI1_uc010sbv.2_Missense_Mutation_p.S303I|FLI1_uc009zci.3_Missense_Mutation_p.S270I	p.S336I	NM_002017	NP_001161153	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	8	1350	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	336					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.1007G>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814625	0.70912	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.039891	0.85682	D	0.000000	D	0.87172	0.6111	H	0.97340	3.985	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	0.91489	0.5210	10	0.87932	D	0	.	18.9143	0.92499	0.0:0.0:1.0:0.0	.	336;143;270	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	I	143;303;336;303;270	ENSP00000437124:S143I;ENSP00000339627:S303I;ENSP00000399985:S336I;ENSP00000432950:S303I;ENSP00000281428:S270I	ENSP00000281428:S270I	S	+	2	0	FLI1	128185741	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.595000	0.98260	2.703000	0.92315	0.650000	0.86243	AGC		0.522	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
RASSF9	9182	broad.mit.edu	37	12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr12:86199652G>A	ENST00000361228.3	-	2	504	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453																																						uc001taf.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Cgc>Tgc		Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.							120.0	119.0	119.0					12																	86199652		1938	4168	6106	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199652G>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.136C>T	12.37:g.86199652G>A	ENSP00000354884:p.Arg46Cys						p.R46C	NM_005447	NP_005438	O75901	RASF9_HUMAN			1	475	-			46			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.136C>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900455	0.72754	.	.	ENSG00000198774	ENST00000361228	T	0.52983	0.64	4.82	4.82	0.62117	Ras-association (2);	0.069647	0.64402	D	0.000010	T	0.66287	0.2774	M	0.78916	2.43	0.54753	D	0.999989	D	0.69078	0.997	P	0.57283	0.817	T	0.72769	-0.4193	10	0.87932	D	0	-18.6986	18.2669	0.90055	0.0:0.0:1.0:0.0	.	46	O75901	RASF9_HUMAN	C	46	ENSP00000354884:R46C	ENSP00000354884:R46C	R	-	1	0	RASSF9	84723783	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	6.552000	0.73914	2.397000	0.81536	0.514000	0.50259	CGC		0.453	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1		
DCLK1	9201	broad.mit.edu	37	13	36700120	36700120	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:36700120G>T	ENST00000360631.3	-	2	366	c.155C>A	c.(154-156)tCc>tAc	p.S52Y	DCLK1_ENST00000379892.4_Missense_Mutation_p.S52Y|DCLK1_ENST00000255448.4_Missense_Mutation_p.S52Y			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582																																						uc001uvf.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(154-156)tCc>tAc		Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.							80.0	74.0	76.0					13																	36700120		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700120G>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.155C>A	13.37:g.36700120G>T	ENSP00000353846:p.Ser52Tyr						p.S52Y	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	1	438	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	52					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.155C>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.115792	0.77323	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.87650	-2.28;-2.28;-2.28	5.66	5.66	0.87406	.	0.186050	0.48286	D	0.000191	D	0.89392	0.6702	L	0.52573	1.65	0.46222	D	0.998931	P	0.44380	0.834	P	0.53649	0.731	D	0.89884	0.4032	10	0.72032	D	0.01	.	14.5835	0.68308	0.0:0.0:0.8541:0.1459	.	52	O15075-2	.	Y	52	ENSP00000255448:S52Y;ENSP00000353846:S52Y;ENSP00000369222:S52Y	ENSP00000255448:S52Y	S	-	2	0	DCLK1	35598120	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.344000	0.72991	2.671000	0.90904	0.650000	0.86243	TCC		0.582	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SLITRK5	26050	broad.mit.edu	37	13	88329407	88329407	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:88329407C>T	ENST00000325089.6	+	2	1983	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	SLITRK5_ENST00000400028.3_Silent_p.D347D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	588	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCTAGTGGACGAGGTGATCT	0.512																																						uc001vln.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1762-1764)gaC>gaT		Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.							161.0	144.0	150.0					13																	88329407		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329407C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1764C>T	13.37:g.88329407C>T						SLITRK5_uc010tic.1_Silent_p.D347D|SLITRK5_uc021rlc.1_Silent_p.D588D	p.D588D	NM_015567	NP_056382	O94991	SLIK5_HUMAN			1	1983	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		588			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1764C>T	CCDS9465.1																																																																																				0.512	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
CLYBL	171425	broad.mit.edu	37	13	100515267	100515267	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:100515267A>G	ENST00000376360.1	+	4	488	c.461A>G	c.(460-462)cAc>cGc	p.H154R	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.H154R			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	154						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCATTCCACTTAAAAGGC	0.358																																						uc001vok.3																			0		p.F153F(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(460-462)cAc>cGc		Homo sapiens citrate lyase beta like (CLYBL), mRNA.							82.0	79.0	80.0					13																	100515267		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100515267A>G	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.461A>G	13.37:g.100515267A>G	ENSP00000365538:p.His154Arg					CLYBL_uc010tix.2_Missense_Mutation_p.H154R|CLYBL_uc010tiy.2_Intron	p.H154R	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			3	492	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		154					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.461A>G	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843862	0.32606	.	.	ENSG00000125246	ENST00000376360;ENST00000339105;ENST00000416504	T;T;T	0.28666	1.6;1.6;1.6	5.52	5.52	0.82312	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.348037	0.36932	N	0.002332	T	0.15739	0.0379	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.12091	-1.0561	10	0.25106	T	0.35	-16.822	10.3223	0.43773	0.9264:0.0:0.0736:0.0	.	154	Q8N0X4	CLYBL_HUMAN	R	154;154;71	ENSP00000365538:H154R;ENSP00000342991:H154R;ENSP00000403408:H71R	ENSP00000342991:H154R	H	+	2	0	CLYBL	99313268	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.623000	0.67757	2.225000	0.72522	0.460000	0.39030	CAC		0.358	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						uc001ytk.2																			1	Substitution - coding silent(1)	p.T136T(2)	endometrium(1)	NS(3)|endometrium(4)|kidney(1)|skin(3)	11						c.(406-408)acG>acA		Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA.							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T						DQ595648_uc021sey.1_5'Flank	p.T136T	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN			3	499	-			136					D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
TEKT5	146279	broad.mit.edu	37	16	10783110	10783110	+	Splice_Site	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr16:10783110C>T	ENST00000283025.2	-	3	790	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	240						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCCCTTACCGCATCTGGAT	0.413																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.e3+1		Homo sapiens tektin 5 (TEKT5), mRNA.							60.0	56.0	58.0					16																	10783110		2197	4300	6497	SO:0001630	splice_region_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10783110C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.719+1G>A	16.37:g.10783110C>T							p.R240_splice	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			3	791	-			240					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.719_splice	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341612	0.24339	.	.	ENSG00000153060	ENST00000283025	T	0.02837	4.14	5.12	4.17	0.49024	.	0.124853	0.36409	N	0.002615	T	0.06508	0.0167	M	0.74467	2.265	0.32131	N	0.586809	P	0.51933	0.949	P	0.46850	0.529	T	0.07712	-1.0758	9	.	.	.	-32.2934	8.6	0.33738	0.0:0.7652:0.1524:0.0824	.	240	Q96M29	TEKT5_HUMAN	Q	240	ENSP00000283025:R240Q	.	R	-	2	0	TEKT5	10690611	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	0.908000	0.28545	1.282000	0.44496	0.655000	0.94253	CGG		0.413	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	Missense_Mutation
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						uc002hdy.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)cagccg>ccg		Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		0	175_177	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772	
RECQL5	9400	broad.mit.edu	37	17	73625102	73625102	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr17:73625102G>A	ENST00000317905.5	-	16	2560	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P774S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	801					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACTTCTCTGGGGCCATCGGG	0.647								Other identified genes with known or suspected DNA repair function																														uc010dgl.3																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(2401-2403)Cca>Tca	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.							38.0	39.0	39.0					17																	73625102		1896	4107	6003	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625102G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2401C>T	17.37:g.73625102G>A	ENSP00000317636:p.Pro801Ser					RECQL5_uc010dgk.3_Missense_Mutation_p.P774S|RECQL5_uc002jot.4_5'Flank	p.P801S	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	2610	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		801					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2401C>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464649	0.26335	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.60040	0.22	4.75	2.74	0.32292	RecQ helicase-like 5 (1);	1.374310	0.04343	N	0.354362	T	0.55433	0.1920	L	0.51422	1.61	0.21782	N	0.999541	P;B	0.39717	0.684;0.285	B;B	0.41036	0.346;0.185	T	0.41197	-0.9522	10	0.35671	T	0.21	0.2394	7.3246	0.26547	0.0895:0.0:0.7427:0.1678	.	801;774	O94762;Q6P4G0	RECQ5_HUMAN;.	S	396;801;801	ENSP00000317636:P801S	ENSP00000317636:P801S	P	-	1	0	RECQL5	71136697	0.011000	0.17503	0.006000	0.13384	0.099000	0.18886	1.246000	0.32803	0.602000	0.29896	0.655000	0.94253	CCA		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
TNFRSF11A	8792	broad.mit.edu	37	18	60036664	60036664	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr18:60036664C>T	ENST00000586569.1	+	9	1552	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	505					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCAAGCTCAGCGAGGGCAGGT	0.632																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1513-1515)gCg>gTg		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							36.0	41.0	40.0					18																	60036664		1862	3664	5526	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60036664C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1514C>T	18.37:g.60036664C>T	ENSP00000465500:p.Ala505Val					TNFRSF11A_uc010dpv.3_Intron	p.A505V	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			8	1552	+		Colorectal(73;0.188)	505					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.1514C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490938	0.26774	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.03	-1.09	0.09904	.	10.623100	0.00397	N	0.000054	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.04013	0.001	T	0.07158	-1.0787	8	.	.	.	-0.0638	1.0933	0.01668	0.4257:0.2587:0.1225:0.1931	.	505	Q9Y6Q6	TNR11_HUMAN	V	505	.	.	A	+	2	0	TNFRSF11A	58187644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.893000	0.04127	-0.113000	0.11958	-0.244000	0.11960	GCG		0.632	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
CREB3L3	84699	broad.mit.edu	37	19	4171806	4171806	+	Missense_Mutation	SNP	C	C	T	rs148141076		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:4171806C>T	ENST00000078445.2	+	10	1373	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	CREB3L3_ENST00000595923.1_Missense_Mutation_p.A408V|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A407V|CREB3L3_ENST00000252587.3_Nonsense_Mutation_p.R298*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	409					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACACCGCGAACCTGACC	0.677																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(1225-1227)gCg>gTg		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		C	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	41.0	47.0	45.0		1226	-6.2	0.0	19	dbSNP_134	45	0,8598		0,0,4299	no	missense	CREB3L3	NM_032607.1	64	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	409/462	4171806	1,13001	2202	4299	6501	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171806C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1226C>T	19.37:g.4171806C>T	ENSP00000078445:p.Ala409Val					CREB3L3_uc002lzm.3_Missense_Mutation_p.A399V|CREB3L3_uc010xib.2_Missense_Mutation_p.A398V|CREB3L3_uc010xic.2_3'UTR	p.A409V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1342	+			409					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.1226C>T	CCDS12121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865327|2.865327	0.51588|0.51588	2.27E-4|2.27E-4	0.0|0.0	ENSG00000060566|ENSG00000060566	ENST00000078445;ENST00000381943|ENST00000252587	D|.	0.82619|.	-1.63|.	3.6|3.6	-6.24|-6.24	0.02046|0.02046	.|.	2.456720|.	0.02248|.	N|.	0.066365|.	T|.	0.10551|.	0.0258|.	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B|.	0.14438|.	0.006;0.01;0.006|.	B;B;B|.	0.06405|.	0.001;0.002;0.001|.	T|.	0.32745|.	-0.9895|.	10|.	0.17369|0.02654	T|T	0.5|1	-21.9456|-21.9456	1.5166|1.5166	0.02507|0.02507	0.1486:0.2267:0.1472:0.4776|0.1486:0.2267:0.1472:0.4776	.|.	407;408;409|.	B7ZL69;Q68CJ9-2;Q68CJ9|.	.;.;CR3L3_HUMAN|.	V|X	409;367|298	ENSP00000078445:A409V|.	ENSP00000078445:A409V|ENSP00000252587:R298X	A|R	+|+	2|1	0|2	CREB3L3|CREB3L3	4122806|4122806	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.848000|-2.848000	0.00733|0.00733	-0.913000|-0.913000	0.03832|0.03832	-0.459000|-0.459000	0.05422|0.05422	GCG|CGA		0.677	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
LILRA6	79168	broad.mit.edu	37	19	54744788	54744788	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:54744788C>T	ENST00000396365.2	-	5	913	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	LILRA6_ENST00000419410.2_Missense_Mutation_p.G292S|LILRA6_ENST00000440558.2_Missense_Mutation_p.G292S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G292S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	292	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTACTGGCCCCCGTGGGAG	0.682																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							54.0	66.0	62.0					19																	54744788		2203	4300	6503	SO:0001583	missense	79168				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54744788C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.874G>A	19.37:g.54744788C>T	ENSP00000379651:p.Gly292Ser					LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.G292S|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc010yep.1_Missense_Mutation_p.G292S|LILRB3_uc010yeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.G292S|LILRB3_uc002qev.1_Missense_Mutation_p.G153S		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638826	0.29157	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.01548	4.78;4.78;4.78;4.78	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125811	0.35525	N	0.003146	T	0.14527	0.0351	H	0.97564	4.03	0.29884	N	0.825762	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.976;0.999	T	0.05582	-1.0876	10	0.87932	D	0	.	7.7785	0.29051	0.0:1.0:0.0:0.0	.	292;292;292;292	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	S	292	ENSP00000390120:G292S;ENSP00000411227:G292S;ENSP00000379651:G292S;ENSP00000245621:G292S	ENSP00000245621:G292S	G	-	1	0	LILRA6	59436600	0.015000	0.18098	0.269000	0.24586	0.037000	0.13140	1.490000	0.35573	1.507000	0.48752	0.162000	0.16502	GGC		0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
EPT1	85465	broad.mit.edu	37	2	26596336	26596336	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:26596336G>A	ENST00000260585.7	+	5	531	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	138					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										TTACTTTGTTGTGACTGTTTA	0.433																																						uc021veu.1																			0											c.(412-414)Gtg>Atg		Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.							160.0	153.0	156.0					2																	26596336		1923	4134	6057	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26596336G>A		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.412G>A	2.37:g.26596336G>A	ENSP00000260585:p.Val138Met					EPT1_uc010eyl.1_Non-coding_Transcript	p.V138M	NM_033505		Q9C0D9	EPT1_HUMAN			4	559	+			138					Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.412G>A	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791945	0.50102	.	.	ENSG00000138018	ENST00000442141;ENST00000260585	T;T	0.50277	0.75;0.75	5.97	5.97	0.96955	.	0.104629	0.64402	D	0.000003	T	0.39600	0.1084	N	0.19112	0.55	0.46499	D	0.999071	B	0.27192	0.171	B	0.29785	0.107	T	0.20273	-1.0280	10	0.51188	T	0.08	-1.9978	18.9889	0.92783	0.0:0.0:1.0:0.0	.	138	Q9C0D9	EPT1_HUMAN	M	106;138	ENSP00000415280:V106M;ENSP00000260585:V138M	ENSP00000260585:V138M	V	+	1	0	EPT1	26449840	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.507000	0.73717	2.829000	0.97493	0.650000	0.86243	GTG		0.433	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2	
TTN	7273	broad.mit.edu	37	2	179432795	179432795	+	Missense_Mutation	SNP	C	C	T	rs374764110		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:179432795C>T	ENST00000591111.1	-	276	73365	c.73141G>A	c.(73141-73143)Gtc>Atc	p.V24381I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23454I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17082I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16957I|TTN_ENST00000589042.1_Missense_Mutation_p.V26022I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17149I|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24381	Fibronectin type-III 77. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			TAACCTATGACGGGGCTTCCA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21103	0.0		0.0	False		,,,				2504	0.0					uc021vsy.1																			0				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.(70360-70362)Gtc>Atc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3757		0,1,1878	102.0	94.0	97.0		51445,51244,70360,50869	3.8	1.0	2		97	0,8226		0,0,4113	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,1,5991	TT,TC,CC		0.0,0.0266,0.0083	benign,benign,benign,benign	17149/27119,17082/27052,23454/33424,16957/26927	179432795	1,11983	1879	4113	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432795C>T	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.73141G>A	2.37:g.179432795C>T	ENSP00000465570:p.Val24381Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17149I|TTN_uc021vta.1_Missense_Mutation_p.V17082I|TTN_uc021vtb.1_Missense_Mutation_p.V16957I	p.V23454I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	70585	-			24381			Fibronectin type-III 70.		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.70360G>A		.	.	.	.	.	.	.	.	.	.	C	10.39	1.336386	0.24253	2.66E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.62	3.81	0.43845	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24431	0.0592	N	0.02830	-0.485	0.40342	D	0.97904	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.003	T	0.06303	-1.0834	9	0.87932	D	0	.	10.5499	0.45081	0.0:0.7904:0.0:0.2096	.	16957;17082;17149;24381	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23454;16957;17149;17082;16955	ENSP00000343764:V23454I;ENSP00000434586:V16957I;ENSP00000340554:V17149I;ENSP00000352154:V17082I	ENSP00000340554:V17149I	V	-	1	0	TTN	179141041	0.383000	0.25156	0.980000	0.43619	0.997000	0.91878	0.427000	0.21379	0.704000	0.31869	0.655000	0.94253	GTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ADNP	23394	broad.mit.edu	37	20	49508976	49508976	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:49508976G>T	ENST00000396029.3	-	5	2842	c.2275C>A	c.(2275-2277)Cat>Aat	p.H759N	ADNP_ENST00000371602.4_Missense_Mutation_p.H759N|ADNP_ENST00000396032.3_Missense_Mutation_p.H759N|ADNP_ENST00000349014.3_Missense_Mutation_p.H759N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	759					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCATCTTCATGACCCTTGGGG	0.418																																						uc002xvt.1																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2275-2277)Cat>Aat		Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.							74.0	75.0	74.0					20																	49508976		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508976G>T	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2275C>A	20.37:g.49508976G>T	ENSP00000379346:p.His759Asn					ADNP_uc002xvu.1_Missense_Mutation_p.H759N	p.H759N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN			4	2620	-			759					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.2275C>A	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123479	0.77436	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	6.07	0.98685	Homeobox (1);Homeodomain-like (1);	0.188590	0.56097	D	0.000023	T	0.50837	0.1639	N	0.22421	0.69	0.47153	D	0.999334	P	0.42827	0.791	B	0.41236	0.351	T	0.53251	-0.8465	9	0.56958	D	0.05	-12.2836	20.6593	0.99626	0.0:0.0:1.0:0.0	.	759	Q9H2P0	ADNP_HUMAN	N	759	.	ENSP00000342905:H759N	H	-	1	0	ADNP	48942383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.505000	0.60421	2.885000	0.99019	0.655000	0.94253	CAT		0.418	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
ATP9A	10079	broad.mit.edu	37	20	50313988	50313988	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:50313988A>G	ENST00000338821.5	-	5	734	c.470T>C	c.(469-471)gTt>gCt	p.V157A	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	157					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGTCTCCAACTTGGATGTT	0.418																																						uc002xwg.1																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(469-471)gTt>gCt		Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.							262.0	243.0	250.0					20																	50313988		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50313988A>G	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.470T>C	20.37:g.50313988A>G	ENSP00000342481:p.Val157Ala					ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	p.V157A	NM_006045	NP_006036	O75110	ATP9A_HUMAN			4	470	-			157					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.470T>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026867	0.75390	.	.	ENSG00000054793	ENST00000338821	D	0.91996	-2.95	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96611	0.8894	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97472	1.0041	10	0.87932	D	0	-22.2655	14.7939	0.69863	1.0:0.0:0.0:0.0	.	157	O75110	ATP9A_HUMAN	A	157	ENSP00000342481:V157A	ENSP00000342481:V157A	V	-	2	0	ATP9A	49747395	1.000000	0.71417	0.735000	0.30896	0.616000	0.37450	8.671000	0.91174	1.889000	0.54706	0.533000	0.62120	GTT		0.418	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
RCAN1	1827	broad.mit.edu	37	21	35890504	35890504	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr21:35890504C>T	ENST00000313806.4	-	4	767	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	RCAN1_ENST00000443408.2_Missense_Mutation_p.V78I|RCAN1_ENST00000481448.1_Missense_Mutation_p.V203I|RCAN1_ENST00000381135.3_Missense_Mutation_p.V203I|RCAN1_ENST00000487990.1_Missense_Mutation_p.V78I|RCAN1_ENST00000482533.1_Missense_Mutation_p.V78I|RCAN1_ENST00000381132.2_Missense_Mutation_p.V158I|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.V132I	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	213					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CATACATGGACCACCACGCTG	0.493																																						uc002yue.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(637-639)Gtc>Atc		Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.							113.0	101.0	105.0					21																	35890504		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35890504C>T		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.637G>A	21.37:g.35890504C>T	ENSP00000320768:p.Val213Ile					RCAN1_uc002yuc.3_Missense_Mutation_p.V132I|RCAN1_uc002yud.3_Missense_Mutation_p.V78I|RCAN1_uc002yub.3_Missense_Mutation_p.V158I	p.V213I	NM_004414	NP_004405	P53805	RCAN1_HUMAN			3	709	-			213					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.637G>A	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945601	0.73672	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.69	5.69	0.88448	.	0.052983	0.85682	D	0.000000	T	0.76751	0.4031	L	0.54323	1.7	0.80722	D	1	D;B;D	0.63046	0.972;0.154;0.992	P;B;D	0.77004	0.823;0.019;0.989	T	0.75522	-0.3288	9	0.49607	T	0.09	-11.4874	19.4097	0.94665	0.0:1.0:0.0:0.0	.	213;132;158	P53805;P53805-3;Q6FGP2	RCAN1_HUMAN;.;.	I	78;213;158;132;203;78;203;78	.	ENSP00000320768:V213I	V	-	1	0	RCAN1	34812374	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	4.560000	0.60802	2.682000	0.91365	0.655000	0.94253	GTC		0.493	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1		
ZDHHC8	29801	broad.mit.edu	37	22	20131184	20131184	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr22:20131184C>T	ENST00000334554.7	+	10	2172	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	ZDHHC8_ENST00000405930.3_Silent_p.P677P|ZDHHC8_ENST00000320602.7_Silent_p.P585P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	677					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCCCCGCCCGGCACTCCCC	0.716																																						uc002zrr.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2029-2031)ccC>ccT		Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.							13.0	14.0	13.0					22																	20131184		2184	4290	6474	SO:0001819	synonymous_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20131184C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2031C>T	22.37:g.20131184C>T						ZDHHC8_uc002zrq.3_Silent_p.P677P|ZDHHC8_uc010gsa.3_Silent_p.P483P	p.P677P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN			9	2138	+	Colorectal(54;0.0993)		677					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	c.2031C>T	CCDS13776.1																																																																																				0.716	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373	
OXSR1	9943	broad.mit.edu	37	3	38266149	38266149	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:38266149T>C	ENST00000446845.1	+	8	1162	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L	OXSR1_ENST00000311806.3_Missense_Mutation_p.F264L					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGAAAATCATTTAGAAAAAT	0.313																																						uc003chy.3																			0				skin(1)	1						c.(790-792)Ttt>Ctt		Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.							37.0	39.0	38.0					3																	38266149		2200	4298	6498	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38266149T>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.790T>C	3.37:g.38266149T>C	ENSP00000415851:p.Phe264Leu					OXSR1_uc010hhb.3_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L	p.F264L	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	1132	+			264			Protein kinase.			Missense_Mutation	SNP	ENST00000446845.1	37	c.790T>C		.	.	.	.	.	.	.	.	.	.	T	22.4	4.283911	0.80803	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.61627	0.09;0.09	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045609	0.85682	D	0.000000	T	0.46600	0.1401	N	0.20574	0.59	0.80722	D	1	B;B	0.24882	0.113;0.064	B;B	0.29440	0.102;0.102	T	0.47861	-0.9084	10	0.66056	D	0.02	-16.8532	14.9075	0.70730	0.0:0.0:0.0:1.0	.	264;264	C9JIG9;O95747	.;OXSR1_HUMAN	L	264	ENSP00000415851:F264L;ENSP00000311713:F264L	ENSP00000311713:F264L	F	+	1	0	OXSR1	38241153	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.092000	0.71414	2.191000	0.70037	0.482000	0.46254	TTT		0.313	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	
TRAK1	22906	broad.mit.edu	37	3	42242442	42242442	+	Silent	SNP	C	C	T	rs368017667		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:42242442C>T	ENST00000327628.5	+	12	1723	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.C383C|TRAK1_ENST00000341421.3_Silent_p.C383C|TRAK1_ENST00000449246.1_Silent_p.C367C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	441	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTCCAGCTGCGTCAGCACCC	0.582																																					GBM(44;195 884 22595 31865 41850)	uc003cky.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1321-1323)tgC>tgT		Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	119.0	111.0	113.0		1323,1149	-1.3	1.0	3		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAK1	NM_001042646.1,NM_014965.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	441/954,383/687	42242442	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242442C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1323C>T	3.37:g.42242442C>T						TRAK1_uc011azh.2_Silent_p.C441C|TRAK1_uc011azi.2_Silent_p.C441C|TRAK1_uc003ckz.4_Silent_p.C367C|TRAK1_uc011azj.2_Silent_p.C367C|TRAK1_uc003cla.3_Silent_p.C383C	p.C441C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			11	1539	+			441			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.1323C>T	CCDS43072.1																																																																																				0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
CASR	846	broad.mit.edu	37	3	122003250	122003250	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:122003250G>A	ENST00000490131.1	+	7	2821	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	CASR_ENST00000296154.5_Missense_Mutation_p.V817I|CASR_ENST00000498619.1_Missense_Mutation_p.V827I|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	817					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTCTTCATCGTCTGGATCTC	0.527																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84	GRCh37	CM952040	CASR	M		c.(2479-2481)Gtc>Atc		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						90.0	81.0	84.0					3																	122003250		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003250G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2449G>A	3.37:g.122003250G>A	ENSP00000418685:p.Val817Ile					CASR_uc003eev.4_Missense_Mutation_p.V817I	p.V827I	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	2917	+			817					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2479G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453044	0.84209	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87571	-2.27;-2.27;-2.27	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93559	0.7944	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	D	0.93328	0.6698	10	0.72032	D	0.01	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	827;817	E7ENE0;P41180	.;CASR_HUMAN	I	817;827;817	ENSP00000418685:V817I;ENSP00000420194:V827I;ENSP00000296154:V817I	ENSP00000296154:V817I	V	+	1	0	CASR	123485940	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GTC		0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
COL6A6	131873	broad.mit.edu	37	3	130313143	130313143	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:130313143G>C	ENST00000358511.6	+	17	4520	c.4489G>C	c.(4489-4491)Ggg>Cgg	p.G1497R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1497R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1497	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGGAAGAGAGGGACTCCTGG	0.463																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4489-4491)Ggg>Cgg		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							72.0	77.0	76.0					3																	130313143		1861	4086	5947	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130313143G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4489G>C	3.37:g.130313143G>C	ENSP00000351310:p.Gly1497Arg					COL6A6_uc003eni.4_5'UTR	p.G1497R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			16	4520	+			1497			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4489G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658194	0.67586	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.99637	-6.29;-6.29	5.17	5.17	0.71159	.	0.000000	0.39146	N	0.001442	D	0.99809	0.9917	H	0.98295	4.195	0.43103	D	0.994798	D	0.89917	1.0	D	0.91635	0.999	D	0.96837	0.9615	10	0.87932	D	0	.	15.9514	0.79843	0.0:0.0:1.0:0.0	.	1497	A6NMZ7	CO6A6_HUMAN	R	1497	ENSP00000351310:G1497R;ENSP00000399236:G1497R	ENSP00000351310:G1497R	G	+	1	0	COL6A6	131795833	1.000000	0.71417	0.683000	0.30040	0.650000	0.38633	5.478000	0.66806	2.575000	0.86900	0.650000	0.86243	GGG		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
TP63	8626	broad.mit.edu	37	3	189587160	189587160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:189587160C>T	ENST00000264731.3	+	9	1266	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	TP63_ENST00000392460.3_Nonsense_Mutation_p.R393*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R308*|TP63_ENST00000354600.5_Nonsense_Mutation_p.R299*|TP63_ENST00000437221.1_Nonsense_Mutation_p.R299*|TP63_ENST00000392461.3_Nonsense_Mutation_p.R299*|TP63_ENST00000440651.2_Nonsense_Mutation_p.R389*|TP63_ENST00000320472.5_Nonsense_Mutation_p.R393*|TP63_ENST00000392463.2_Nonsense_Mutation_p.R299*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R295*|TP63_ENST00000418709.2_Nonsense_Mutation_p.R393*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R214*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	393					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCAAGAAACGAAGATCCCC	0.413										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1177-1179)Cga>Tga		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							157.0	131.0	140.0					3																	189587160		2203	4300	6503	SO:0001587	stop_gained	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189587160C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1177C>T	3.37:g.189587160C>T	ENSP00000264731:p.Arg393*	HNSCC(45;0.13)				TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc021xir.1_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270*	p.R393*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1266	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		393					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	c.1177C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281204	0.95489	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3339	12.7517	0.57312	0.1744:0.8256:0.0:0.0	.	.	.	.	X	393;393;393;393;389;308;299;299;299;299;214;295	.	.	R	+	1	2	TP63	191069854	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.360000	0.52299	2.766000	0.95052	0.655000	0.94253	CGA		0.413	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
FYTTD1	84248	broad.mit.edu	37	3	197497100	197497100	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:197497100G>T	ENST00000241502.4	+	4	704	c.482G>T	c.(481-483)aGc>aTc	p.S161I	FYTTD1_ENST00000428395.2_Missense_Mutation_p.S70I|FYTTD1_ENST00000424384.2_Missense_Mutation_p.S94I|FYTTD1_ENST00000415708.2_Missense_Mutation_p.S135I	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	161					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAGAGACCTAGCCAGCTAAGC	0.363																																						uc003fyi.2																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(481-483)aGc>aTc		Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.							67.0	64.0	65.0					3																	197497100		2203	4300	6503	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197497100G>T	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.482G>T	3.37:g.197497100G>T	ENSP00000241502:p.Ser161Ile					FYTTD1_uc011bui.1_Missense_Mutation_p.S135I|FYTTD1_uc011buj.1_Intron|FYTTD1_uc011buk.1_Missense_Mutation_p.S94I	p.S161I	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	3	701	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	161					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.482G>T	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	G	9.607	1.130352	0.21041	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.71	4.55	0.56014	.	0.263259	0.44483	D	0.000449	T	0.21387	0.0515	N	0.08118	0	0.20563	N	0.999883	B;B	0.20459	0.045;0.022	B;B	0.26614	0.062;0.071	T	0.19063	-1.0317	10	0.21540	T	0.41	-11.2916	7.0237	0.24928	0.7342:0.1875:0.0782:0.0	.	135;161	Q96QD9-2;Q96QD9	.;UIF_HUMAN	I	94;135;70;161;94	ENSP00000399896:S94I;ENSP00000393746:S135I;ENSP00000391157:S70I;ENSP00000241502:S161I;ENSP00000394631:S94I	ENSP00000241502:S161I	S	+	2	0	FYTTD1	198981497	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.246000	0.32803	1.092000	0.41356	-0.429000	0.05907	AGC		0.363	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288	
EGF	1950	broad.mit.edu	37	4	110895931	110895931	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr4:110895931A>T	ENST00000265171.5	+	12	2242	c.1797A>T	c.(1795-1797)caA>caT	p.Q599H	EGF_ENST00000503392.1_Missense_Mutation_p.Q599H|EGF_ENST00000509793.1_Missense_Mutation_p.Q557H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	599					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ACATCTCTCAACCACGAGGAA	0.388																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1795-1797)caA>caT		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						103.0	94.0	97.0					4																	110895931		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110895931A>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1797A>T	4.37:g.110895931A>T	ENSP00000265171:p.Gln599His					EGF_uc011cfu.2_Missense_Mutation_p.Q557H|EGF_uc011cfv.2_Missense_Mutation_p.Q599H	p.Q599H	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	11	2249	+		Hepatocellular(203;0.0893)	599					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1797A>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	9.333	1.060931	0.19987	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95307	-3.67;-3.67;-3.67	4.94	0.637	0.17735	Six-bladed beta-propeller, TolB-like (1);	0.229367	0.45126	D	0.000389	D	0.91771	0.7397	L	0.51422	1.61	0.35190	D	0.773243	B;B;P	0.35192	0.31;0.079;0.489	B;B;B	0.42495	0.315;0.124;0.389	D	0.88555	0.3119	10	0.59425	D	0.04	.	6.5967	0.22677	0.1523:0.2528:0.5949:0.0	.	599;557;599	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	H	557;599;599	ENSP00000424316:Q557H;ENSP00000265171:Q599H;ENSP00000421384:Q599H	ENSP00000265171:Q599H	Q	+	3	2	EGF	111115380	1.000000	0.71417	0.938000	0.37757	0.066000	0.16364	0.919000	0.28692	-0.141000	0.11374	-0.290000	0.09829	CAA		0.388	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
C6	729	broad.mit.edu	37	5	41196027	41196027	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:41196027T>C	ENST00000263413.3	-	5	718	c.454A>G	c.(454-456)Att>Gtt	p.I152V	C6_ENST00000337836.5_Missense_Mutation_p.I152V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	152	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTGGCAATGCAGCGGCCT	0.358																																						uc003jmk.2																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(454-456)Att>Gtt		Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.							149.0	133.0	138.0					5																	41196027		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41196027T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.454A>G	5.37:g.41196027T>C	ENSP00000263413:p.Ile152Val					C6_uc003jml.1_Missense_Mutation_p.I152V	p.I152V	NM_000065	NP_001108603	P13671	CO6_HUMAN			4	664	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	152			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263413.3	37	c.454A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228161	0.79576	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.98012	-4.66;-4.66	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.63208	1.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.98732	1.0713	10	0.48119	T	0.1	-11.1178	14.8558	0.70335	0.0:0.0:0.0:1.0	.	152	P13671	CO6_HUMAN	V	152	ENSP00000338861:I152V;ENSP00000263413:I152V	ENSP00000263413:I152V	I	-	1	0	C6	41231784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.649000	0.54417	2.146000	0.66826	0.528000	0.53228	ATT		0.358	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
C5orf34	375444	broad.mit.edu	37	5	43487196	43487196	+	Missense_Mutation	SNP	C	C	A	rs544594256		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:43487196C>A	ENST00000306862.2	-	13	2113	c.1738G>T	c.(1738-1740)Ggt>Tgt	p.G580C	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	580										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTTAGGATACCACTATTTTCT	0.313																																						uc003jnz.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(1738-1740)Ggt>Tgt		Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.							47.0	47.0	47.0					5																	43487196		2201	4294	6495	SO:0001583	missense	375444							g.chr5:43487196C>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1738G>T	5.37:g.43487196C>A	ENSP00000303490:p.Gly580Cys						p.G580C	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			12	2140	-	Lung NSC(6;2.07e-05)		580						Missense_Mutation	SNP	ENST00000306862.2	37	c.1738G>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126244	0.37533	.	.	ENSG00000172244	ENST00000306862	T	0.47869	0.83	5.71	3.7	0.42460	.	0.296642	0.30347	N	0.009830	T	0.54159	0.1841	L	0.57536	1.79	0.27250	N	0.958919	D	0.65815	0.995	P	0.60415	0.874	T	0.50004	-0.8878	10	0.72032	D	0.01	-5.8778	4.4522	0.11626	0.0:0.6335:0.0:0.3665	.	580	Q96MH7	CE034_HUMAN	C	580	ENSP00000303490:G580C	ENSP00000303490:G580C	G	-	1	0	C5orf34	43522953	0.986000	0.35501	0.924000	0.36721	0.055000	0.15305	2.090000	0.41682	1.424000	0.47217	0.650000	0.86243	GGT		0.313	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566	
FGFR4	2264	broad.mit.edu	37	5	176519769	176519769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:176519769G>A	ENST00000292408.4	+	8	1286	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W347*|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W347*|FGFR4_ENST00000393637.1_Nonsense_Mutation_p.W347*|FGFR4_ENST00000292410.3_Nonsense_Mutation_p.W347*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	347	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGTCTGCCTGGCTCACGGTGC	0.647										TSP Lung(9;0.080)																												uc003mfl.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1039-1041)tgG>tgA		Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	Palifermin(DB00039)						52.0	50.0	51.0					5																	176519769		2203	4300	6503	SO:0001587	stop_gained	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176519769G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1041G>A	5.37:g.176519769G>A	ENSP00000292408:p.Trp347*	TSP Lung(9;0.080)				FGFR4_uc003mfm.3_Nonsense_Mutation_p.W347*|FGFR4_uc011dfu.2_Nonsense_Mutation_p.W347*|FGFR4_uc011dfw.1_Nonsense_Mutation_p.W347*|FGFR4_uc003mfo.3_Nonsense_Mutation_p.W347*	p.W347*	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1208	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	347			Ig-like C2-type 3.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Nonsense_Mutation	SNP	ENST00000292408.4	37	c.1041G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.442042	0.97568	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0496	0.89343	0.0:0.0:1.0:0.0	.	.	.	.	X	347;347;347;347;347;459	.	ENSP00000292408:W347X	W	+	3	0	FGFR4	176452375	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.721000	0.98766	2.425000	0.82216	0.561000	0.74099	TGG		0.647	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		
TMEM217	221468	broad.mit.edu	37	6	37186701	37186701	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:37186701G>T	ENST00000336655.2	-	2	145	c.106C>A	c.(106-108)Cac>Aac	p.H36N	TMEM217_ENST00000356757.2_Missense_Mutation_p.H36N|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	36						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTCCCTAGGTGCTTCTGTTCA	0.468																																						uc003onl.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(106-108)Cac>Aac		Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.							263.0	226.0	239.0					6																	37186701		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186701G>T		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.106C>A	6.37:g.37186701G>T	ENSP00000338164:p.His36Asn					TMEM217_uc010jwr.3_Missense_Mutation_p.H36N|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.H36N	p.H36N	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN			1	187	-			36					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.106C>A	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665884	0.47677	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.81	-1.81	0.07882	.	.	.	.	.	T	0.30230	0.0758	L	0.43152	1.355	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.54924	0.764;0.764	T	0.34403	-0.9830	8	0.66056	D	0.02	-10.1377	12.5589	0.56269	0.151:0.0:0.849:0.0	.	36;36	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	N	36	.	ENSP00000338164:H36N	H	-	1	0	TMEM217	37294679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.247000	0.08866	-0.443000	0.07180	-0.320000	0.08662	CAC		0.468	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316	
DNAH8	1769	broad.mit.edu	37	6	38830180	38830180	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:38830180G>A	ENST00000359357.3	+	42	5859	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1869M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2086M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1869	AAA 1. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGTGGTCGTGTTCAATTG	0.418																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6256-6258)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							150.0	147.0	148.0					6																	38830180		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830180G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5605G>A	6.37:g.38830180G>A	ENSP00000352312:p.Val1869Met					DNAH8_uc003ooe.2_Missense_Mutation_p.V1869M	p.V2086M	NM_001206927	NP_001193856					43	6365	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6256G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.132215	0.94473	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14640	2.49;2.49;2.49	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.50206	-0.8855	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1869	Q96JB1	DYH8_HUMAN	M	2074;2074;1869;1869	ENSP00000333363:V2074M;ENSP00000352312:V1869M;ENSP00000402294:V1869M	ENSP00000333363:V2074M	V	+	1	0	DNAH8	38938158	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GTG		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
LRFN2	57497	broad.mit.edu	37	6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:40400626G>A	ENST00000338305.6	-	2	769	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597																																						uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(226-228)aCg>aTg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.							60.0	54.0	56.0					6																	40400626		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400626G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.227C>T	6.37:g.40400626G>A	ENSP00000345985:p.Thr76Met						p.T76M	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			1	692	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		76					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.227C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966600	0.74131	.	.	ENSG00000156564	ENST00000338305	T	0.58506	0.33	5.76	5.76	0.90799	.	0.091150	0.64402	D	0.000001	T	0.76905	0.4053	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.80551	-0.1332	10	0.72032	D	0.01	.	18.5214	0.90954	0.0:0.0:1.0:0.0	.	76	Q9ULH4	LRFN2_HUMAN	M	76	ENSP00000345985:T76M	ENSP00000345985:T76M	T	-	2	0	LRFN2	40508604	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	8.017000	0.88712	2.736000	0.93811	0.655000	0.94253	ACG		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)tgcfs		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1313_1314	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
TBP	6908	broad.mit.edu	37	6	170880497	170880497	+	Splice_Site	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:170880497G>A	ENST00000392092.2	+	7	1124		c.e7-1		TBP_ENST00000540980.1_Splice_Site|TBP_ENST00000230354.6_Splice_Site	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein						cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTTCCTTCTAGTTATGAGCCA	0.318																																						uc003qxu.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.e7-1		Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.							119.0	112.0	114.0					6																	170880497		2203	4298	6501	SO:0001630	splice_region_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170880497G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.846-1G>A	6.37:g.170880497G>A						TBP_uc011ehf.2_Splice_Site_p.S262_splice|TBP_uc003qxt.3_Splice_Site_p.S282_splice	p.S282_splice	NM_003194	NP_001165556	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	7	1125	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	282					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Splice_Site	SNP	ENST00000392092.2	37	c.846_splice	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.999019	0.74818	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091;ENST00000446829	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4018	0.94632	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBP	170722422	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	9.248000	0.95456	2.578000	0.87016	0.655000	0.94253	.		0.318	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	Intron
TECPR1	25851	broad.mit.edu	37	7	97862242	97862242	+	Missense_Mutation	SNP	G	G	A	rs375364856		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:97862242G>A	ENST00000447648.2	-	12	2014	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	TECPR1_ENST00000542604.1_Missense_Mutation_p.P502L|TECPR1_ENST00000379795.3_Missense_Mutation_p.P573L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	572					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTCTGGGCCGGCGTGATGGA	0.652																																						uc003upg.3																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1714-1716)cCg>cTg		Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.		G	LEU/PRO	0,4248		0,0,2124	49.0	56.0	54.0		1715	4.1	0.5	7		54	1,8453		0,1,4226	no	missense	TECPR1	NM_015395.1	98	0,1,6350	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	572/1166	97862242	1,12701	2124	4227	6351	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97862242G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1715C>T	7.37:g.97862242G>A	ENSP00000404923:p.Pro572Leu					TECPR1_uc003uph.1_Missense_Mutation_p.P502L	p.P572L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			11	1920	-			572					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1715C>T	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349307	0.82132	0.0	1.18E-4	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.33438	1.42;1.44;1.41	5.0	4.11	0.48088	.	0.056025	0.64402	N	0.000001	T	0.49029	0.1533	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.49409	-0.8943	10	0.72032	D	0.01	-30.0066	12.2046	0.54345	0.0822:0.0:0.9178:0.0	.	502;572	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	572;573;502	ENSP00000404923:P572L;ENSP00000369121:P573L;ENSP00000441121:P502L	ENSP00000369121:P573L	P	-	2	0	TECPR1	97700178	1.000000	0.71417	0.455000	0.27031	0.832000	0.47134	6.706000	0.74649	1.110000	0.41699	0.462000	0.41574	CCG		0.652	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395	
CYP3A5	1577	broad.mit.edu	37	7	99264589	99264589	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:99264589C>T	ENST00000222982.4	-	5	517	c.418G>A	c.(418-420)Gga>Aga	p.G140R	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.G130R|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	140					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTGAGTTTTCCGCTGGTGAAG	0.413																																						uc003urq.3																			0		p.G140R(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(418-420)Gga>Aga		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.							105.0	94.0	98.0					7																	99264589		2203	4300	6503	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99264589C>T	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.418G>A	7.37:g.99264589C>T	ENSP00000222982:p.Gly140Arg					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G27R|CYP3A7_uc011kiy.2_Missense_Mutation_p.G130R|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	p.G140R	NM_000777	NP_000768	P24462	CP3A7_HUMAN			4	520	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		140					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.418G>A	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835672	0.71373	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.68765	-0.35;-0.35	3.74	2.86	0.33363	.	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.84817	0.0794	10	0.87932	D	0	.	9.4557	0.38753	0.0:0.89:0.0:0.11	.	130;140	F5H4S0;P20815	.;CP3A5_HUMAN	R	140;130	ENSP00000222982:G140R;ENSP00000342969:G130R	ENSP00000222982:G140R	G	-	1	0	CYP3A5	99102525	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.442000	0.59988	0.682000	0.31407	-0.119000	0.15052	GGA		0.413	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1		
KIAA1147	57189	broad.mit.edu	37	7	141365018	141365018	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:141365018C>G	ENST00000536163.1	-	6	920	c.921G>C	c.(919-921)gaG>gaC	p.E307D	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.E203D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	307										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCTCCAGGCTCTCGATGTCAG	0.602																																						uc003vwk.3																			0		p.I306L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(919-921)gaG>gaC		Homo sapiens KIAA1147 (KIAA1147), mRNA.							74.0	80.0	78.0					7																	141365018		2110	4229	6339	SO:0001583	missense	57189							g.chr7:141365018C>G	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.921G>C	7.37:g.141365018C>G	ENSP00000445768:p.Glu307Asp						p.E307D	NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN			5	921	-	Melanoma(164;0.0171)		307					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.921G>C	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158082	0.21454	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.8	2.89	0.33648	.	0.463345	0.24823	N	0.035307	T	0.15739	0.0379	N	0.10916	0.065	0.27679	N	0.946495	B	0.02656	0.0	B	0.01281	0.0	T	0.28004	-1.0057	9	0.10377	T	0.69	-14.1572	7.1004	0.25333	0.0:0.5184:0.3646:0.1169	.	307	A4D1U4	LCHN_HUMAN	D	307;203	.	ENSP00000297761:E307D	E	-	3	2	KIAA1147	141011487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.565000	0.23578	0.354000	0.24105	0.655000	0.94253	GAG		0.602	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1		
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						uc003wel.3																			5	Substitution - coding silent(5)	p.N336N(10)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C						ARHGEF5_uc003wek.3_Silent_p.N336N	p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			1	1126	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
NOS3	4846	broad.mit.edu	37	7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:150695737G>A	ENST00000484524.1	+	6	785	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q|NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000297494.3_Missense_Mutation_p.R262Q	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTCTGTGCGGGGGGACCCA	0.652																																						uc003wif.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(784-786)cGg>cAg		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						13.0	13.0	13.0					7																	150695737		2178	4274	6452	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150695737G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.785G>A	7.37:g.150695737G>A	ENSP00000420215:p.Arg262Gln					NOS3_uc011kuy.2_Missense_Mutation_p.R56Q|NOS3_uc011kva.2_Missense_Mutation_p.R262Q|NOS3_uc011kuz.2_Missense_Mutation_p.R262Q|NOS3_uc011kvb.2_Missense_Mutation_p.R262Q	p.R262Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1081	+	all_neural(206;0.219)		262			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.785G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.756054	0.49362	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.0	2.0	0.26442	Nitric oxide synthase, oxygenase domain (2);	0.306973	0.22925	N	0.053964	T	0.07908	0.0198	N	0.03608	-0.345	0.30076	N	0.809627	B;B;B;B;B	0.15930	0.001;0.001;0.004;0.002;0.015	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.001;0.0	T	0.09228	-1.0684	10	0.46703	T	0.11	-9.7242	5.7049	0.17903	0.094:0.0:0.4347:0.4713	.	262;262;262;56;262	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	Q	262;56;262;262	ENSP00000297494:R262Q;ENSP00000417143:R56Q;ENSP00000420215:R262Q;ENSP00000420551:R262Q	ENSP00000297494:R262Q	R	+	2	0	NOS3	150326670	0.737000	0.28175	0.956000	0.39512	0.788000	0.44548	2.139000	0.42149	1.225000	0.43566	0.542000	0.68232	CGG		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
IMPAD1	54928	broad.mit.edu	37	8	57905955	57905955	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:57905955G>A	ENST00000262644.4	-	1	448	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	64					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741																																						uc003xte.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(190-192)Cgc>Tgc		Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.							19.0	19.0	19.0					8																	57905955		2194	4291	6485	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57905955G>A		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.190C>T	8.37:g.57905955G>A	ENSP00000262644:p.Arg64Cys						p.R64C	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			0	476	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	64					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.190C>T	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041267	0.55003	.	.	ENSG00000104331	ENST00000262644	T	0.53423	0.62	5.05	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68526	-0.5385	10	0.66056	D	0.02	-0.0018	6.9727	0.24658	0.0931:0.0:0.7402:0.1667	.	64	Q9NX62	IMPA3_HUMAN	C	64	ENSP00000262644:R64C	ENSP00000262644:R64C	R	-	1	0	IMPAD1	58068509	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.892000	0.56235	1.023000	0.39654	-0.378000	0.06908	CGC		0.741	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813	
TPD52	7163	broad.mit.edu	37	8	80954870	80954870	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:80954870C>T	ENST00000379097.3	-	5	902	c.540G>A	c.(538-540)aaG>aaA	p.K180K	TPD52_ENST00000519303.2_Silent_p.K16K|TPD52_ENST00000518937.1_Silent_p.K163K|TPD52_ENST00000537855.1_Silent_p.K180K|TPD52_ENST00000379096.5_Silent_p.K140K|TPD52_ENST00000448733.2_Silent_p.K194K|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000520527.1_Silent_p.K203K|TPD52_ENST00000517427.1_Silent_p.K189K	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	180					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			AGTTTTCGACCTTTTCTTCAA	0.308																																						uc022awn.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(607-609)aaG>aaA		Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.							114.0	118.0	117.0					8																	80954870		2202	4299	6501	SO:0001819	synonymous_variant	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80954870C>T	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.540G>A	8.37:g.80954870C>T						TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Silent_p.K180K|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Silent_p.K194K|TPD52_uc022awp.1_Silent_p.K189K	p.K203K	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		6	931	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	180					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Silent	SNP	ENST00000379097.3	37	c.609G>A	CCDS34912.1																																																																																				0.308	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079	
FBP1	2203	broad.mit.edu	37	9	97401548	97401548	+	Silent	SNP	G	G	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:97401548G>C	ENST00000375326.4	-	1	241	c.45C>G	c.(43-45)acC>acG	p.T15T	FBP1_ENST00000415431.1_Silent_p.T15T	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	15					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGACGAAGCGGGTCAGGGTGT	0.667																																					Ovarian(142;590 2466 25593 44496)	uc004auw.4																			0				kidney(1)|liver(1)|lung(1)	3						c.(43-45)acC>acG		Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						38.0	30.0	32.0					9																	97401548		2202	4298	6500	SO:0001819	synonymous_variant	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97401548G>C	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.45C>G	9.37:g.97401548G>C						FBP1_uc010mrl.3_Silent_p.T15T	p.T15T	NM_000507	NP_001121100	P09467	F16P1_HUMAN			0	376	-		Acute lymphoblastic leukemia(62;0.136)	15					O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	c.45C>G	CCDS6712.1																																																																																				0.667	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507	
TRAF2	7186	broad.mit.edu	37	9	139818449	139818449	+	Silent	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:139818449G>A	ENST00000247668.2	+	10	1336	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAF2_ENST00000359662.3_Silent_p.Q480Q|TRAF2_ENST00000536468.1_Silent_p.Q428Q	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	428	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCTTCAACCAGAAGGTGAGGC	0.647																																						uc004cjv.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1282-1284)caG>caA		Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.							59.0	49.0	52.0					9																	139818449		2203	4300	6503	SO:0001819	synonymous_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139818449G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1284G>A	9.37:g.139818449G>A						TRAF2_uc010nbu.3_Silent_p.Q428Q|TRAF2_uc011mek.2_Silent_p.Q417Q|TRAF2_uc010nbw.3_Silent_p.Q403Q	p.Q428Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1341	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	428			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	c.1284G>A	CCDS7013.1																																																																																				0.647	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138	
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(34-36)ctgdel		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.			,,	56,3144		0,40,16,1328,448					,,	5.7	1.0			6	159,5726		2,89,66,2096,1445	no	coding,coding,coding	PCDH19	NM_020766.2,NM_001184880.1,NM_001105243.1	,,	2,129,82,3424,1893	A1A1,A1R,A1,RR,R		2.7018,1.75,2.3665	,,	,,		215,8870				SO:0001651	inframe_deletion	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663560_99663562delCAG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.34_36delCTG	X.37:g.99663569_99663571delCAG	ENSP00000362125:p.Leu12del					PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del	p.L12del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	1710_1712	-			12					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	In_Frame_Del	DEL	ENST00000373034.4	37	c.34_36delCTG	CCDS55462.1																																																																																				0.665	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
