#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C2orf71	388939	broad.mit.edu	37	2	29294843	29294843	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:29294843C>T	ENST00000331664.5	-	1	2284	c.2285G>A	c.(2284-2286)tGc>tAc	p.C762Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	762					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGCATGATGCAATTCCTGAG	0.527																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(2284-2286)tGc>tAc		chromosome 2 open reading frame 71							55.0	54.0	54.0					2																	29294843		1919	4138	6057	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294843C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2285G>A	2.37:g.29294843C>T	ENSP00000332809:p.Cys762Tyr						p.C762Y	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	2284	-			762						Missense_Mutation	SNP	ENST00000331664.5	37	c.2285G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519896	0.00967	.	.	ENSG00000179270	ENST00000331664	T	0.16073	2.37	5.83	4.88	0.63580	.	0.129386	0.52532	D	0.000076	T	0.09818	0.0241	N	0.14661	0.345	0.29416	N	0.860922	P	0.42203	0.773	B	0.39904	0.313	T	0.10245	-1.0638	10	0.16896	T	0.51	-14.318	11.5254	0.50576	0.3863:0.6137:0.0:0.0	.	762	A6NGG8	CB071_HUMAN	Y	762	ENSP00000332809:C762Y	ENSP00000332809:C762Y	C	-	2	0	C2orf71	29148347	0.996000	0.38824	0.996000	0.52242	0.032000	0.12392	2.748000	0.47483	2.753000	0.94483	0.650000	0.86243	TGC		0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		36	71	0	0	0	0.788014	0	36	71				
PSMD1	5707	broad.mit.edu	37	2	231948335	231948335	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:231948335A>G	ENST00000308696.6	+	14	1742	c.1580A>G	c.(1579-1581)cAg>cGg	p.Q527R	PSMD1_ENST00000409643.1_Missense_Mutation_p.Q527R|PSMD1_ENST00000373635.4_Missense_Mutation_p.Q527R	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	527					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAAAATGCTCAGGCTATTGAG	0.433																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1579-1581)cAg>cGg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						194.0	184.0	187.0					2																	231948335		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231948335A>G	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1580A>G	2.37:g.231948335A>G	ENSP00000309474:p.Gln527Arg					PSMD1_ENST00000409643.1_Missense_Mutation_p.Q527R|PSMD1_ENST00000373635.4_Missense_Mutation_p.Q527R	p.Q527R	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	14	1742	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	527					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1580A>G	CCDS2482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.792402|2.792402	0.50102|0.50102	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643|ENST00000447633	T;T;T|.	0.31510|.	1.49;1.49;1.49|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.105797|.	0.64402|.	D|.	0.000002|.	T|T	0.52370|0.52370	0.1730|0.1730	N|N	0.20845|0.20845	0.615|0.615	0.80722|0.80722	D|D	1|1	B;B|.	0.12013|.	0.005;0.005|.	B;B|.	0.18561|.	0.021;0.022|.	T|T	0.49504|0.49504	-0.8933|-0.8933	10|5	0.28530|.	T|.	0.3|.	-12.1463|-12.1463	16.3871|16.3871	0.83514|0.83514	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	527;527|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	R|G	527|20	ENSP00000309474:Q527R;ENSP00000362738:Q527R;ENSP00000386932:Q527R|.	ENSP00000309474:Q527R|.	Q|R	+|+	2|1	0|2	PSMD1|PSMD1	231656579|231656579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.179000|7.179000	0.77665|0.77665	2.265000|2.265000	0.75225|0.75225	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.433	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			60	140	0	0	0	0.870114	0	60	140				
PI4KB	5298	broad.mit.edu	37	1	151274728	151274728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151274728G>A	ENST00000368873.1	-	7	1735	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R508*|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R508*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.R191*|PI4KB_ENST00000368875.2_Nonsense_Mutation_p.R535*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R535*|RN7SL444P_ENST00000578948.1_RNA			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	523					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGGTCTCGTTTGAAGGCT	0.547																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1603-1605)Cga>Tga		phosphatidylinositol 4-kinase, catalytic, beta							145.0	141.0	142.0					1																	151274728		2203	4300	6503	SO:0001587	stop_gained	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151274728G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1567C>T	1.37:g.151274728G>A	ENSP00000357867:p.Arg523*					PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R508*|PI4KB_ENST00000368873.1_Nonsense_Mutation_p.R523*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R535*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R508*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.R191*	p.R535*	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	2183	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		523					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	ENST00000368873.1	37	c.1603C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.873509	0.98537	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800	.	.	.	5.0	3.09	0.35607	.	0.167398	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6674	7.2576	0.26185	0.0818:0.0:0.6194:0.2987	.	.	.	.	X	508;535;535;523;191;508;191	.	ENSP00000271657:R535X	R	-	1	2	PI4KB	149541352	0.987000	0.35691	0.915000	0.36163	0.975000	0.68041	1.910000	0.39927	0.673000	0.31224	-0.379000	0.06801	CGA		0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		37	257	0	0	0	0.819951	0	37	257				
IPMK	253430	broad.mit.edu	37	10	59956101	59956101	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:59956101A>G	ENST00000373935.3	-	6	1309	c.987T>C	c.(985-987)caT>caC	p.H329H		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	329					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCTGACTGTGATGCTTTTTTG	0.388																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(985-987)caT>caC		inositol polyphosphate multikinase							172.0	177.0	175.0					10																	59956101		2203	4300	6503	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956101A>G	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.987T>C	10.37:g.59956101A>G							p.H329H	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			6	1309	-			329						Silent	SNP	ENST00000373935.3	37	c.987T>C	CCDS7250.1																																																																																				0.388	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		45	446	0	0	0	0.870114	0	45	446				
PGS1	9489	broad.mit.edu	37	17	76388741	76388741	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76388741A>G	ENST00000262764.6	+	2	354	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	PGS1_ENST00000329897.7_Start_Codon_SNP_p.M1V	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	110					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTTCGAGCTCATGAAGGTAAG	0.468																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(328-330)Atg>Gtg		phosphatidylglycerophosphate synthase 1							66.0	67.0	67.0					17																	76388741		1867	4109	5976	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76388741A>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.328A>G	17.37:g.76388741A>G	ENSP00000262764:p.Met110Val					PGS1_ENST00000329897.7_Start_Codon_SNP_p.M1V	p.M110V	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		2	354	+			110					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.328A>G	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008396	0.35415	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	T	0.20738	2.05	5.38	5.38	0.77491	.	0.046332	0.85682	D	0.000000	T	0.28101	0.0693	M	0.69823	2.125	0.80722	D	1	P	0.38617	0.64	B	0.40602	0.334	T	0.06881	-1.0802	10	0.72032	D	0.01	-16.0185	11.224	0.48873	0.8548:0.0:0.0:0.1452	.	110	Q32NB8	PGPS1_HUMAN	V	110;1	ENSP00000262764:M110V	ENSP00000262764:M110V	M	+	1	0	PGS1	73900336	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.133000	0.42093	2.042000	0.60477	0.482000	0.46254	ATG		0.468	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		30	112	0	0	0	0.750413	0	30	112				
MAST2	23139	broad.mit.edu	37	1	46500672	46500672	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:46500672G>T	ENST00000361297.2	+	29	4614	c.4331G>T	c.(4330-4332)aGg>aTg	p.R1444M	MAST2_ENST00000372009.2_Missense_Mutation_p.R1254M	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGCCGCCCAGGGAAGTGAGC	0.632																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(4330-4332)aGg>aTg		microtubule associated serine/threonine kinase 2							32.0	36.0	35.0					1																	46500672		2012	4180	6192	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500672G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4331G>T	1.37:g.46500672G>T	ENSP00000354671:p.Arg1444Met					MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.R1254M	p.R1444M	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			29	4614	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1444						Missense_Mutation	SNP	ENST00000361297.2	37	c.4331G>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.019836	0.54576	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.68765	-0.23;-0.35	3.93	3.93	0.45458	.	0.296030	0.24681	N	0.036470	T	0.72407	0.3456	L	0.34521	1.04	0.35600	D	0.807828	D;D	0.71674	0.991;0.998	P;D	0.64042	0.818;0.921	T	0.80400	-0.1398	10	0.66056	D	0.02	-8.0209	17.2802	0.87126	0.0:0.0:1.0:0.0	.	1254;1444	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	M	1444;1254	ENSP00000354671:R1444M;ENSP00000361079:R1254M	ENSP00000354671:R1444M	R	+	2	0	MAST2	46273259	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	6.112000	0.71547	2.486000	0.83907	0.558000	0.71614	AGG		0.632	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		28	22	1	0	6.02846e-25	0.779181	6.62814e-25	28	22				
ELL2	22936	broad.mit.edu	37	5	95226808	95226808	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:95226808T>C	ENST00000237853.4	-	10	2109	c.1760A>G	c.(1759-1761)cAg>cGg	p.Q587R	ELL2_ENST00000431061.2_Splice_Site_p.Q337R	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	587					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TCCATTTACCTGATACTCTTT	0.433																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.e10+1		elongation factor, RNA polymerase II, 2							190.0	188.0	189.0					5																	95226808		2203	4300	6503	SO:0001630	splice_region_variant	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95226808T>C	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1761+1A>G	5.37:g.95226808T>C						ELL2_ENST00000431061.2_Splice_Site_p.Q337_splice	p.Q587_splice	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	10	2109	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	587					B4DNK7	Splice_Site	SNP	ENST00000237853.4	37	c.1761_splice	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.4|29.4	5.005165|5.005165	0.93287|0.93287	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000237853;ENST00000431061|ENST00000508757	T;T|.	0.22945|.	1.93;1.93|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Occludin/RNA polymerase II elongation factor, ELL domain (1);|.	0.101736|.	0.64402|.	D|.	0.000001|.	T|T	0.71195|0.71195	0.3311|0.3311	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.24258|.	0.1|.	B|.	0.32149|.	0.141|.	T|T	0.68918|0.68918	-0.5282|-0.5282	10|5	0.72032|.	D|.	0.01|.	-1.8403|-1.8403	16.4675|16.4675	0.84087|0.84087	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	587|.	O00472|.	ELL2_HUMAN|.	R|G	587;337|105	ENSP00000237853:Q587R;ENSP00000399704:Q337R|.	ENSP00000237853:Q587R|.	Q|R	-|-	2|1	0|2	ELL2|ELL2	95252564|95252564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.013000|8.013000	0.88655|0.88655	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAG|AGG		0.433	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	Missense_Mutation	129	290	0	0	0	0.870114	0	129	290				
KIF5B	3799	broad.mit.edu	37	10	32307245	32307245	+	Splice_Site	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:32307245T>A	ENST00000302418.4	-	22	2895	c.2438A>T	c.(2437-2439)aAg>aTg	p.K813M	KIF5B_ENST00000493889.1_Intron	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	813					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTACATTACCTTTTTAACTCT	0.373			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.e22+1		kinesin family member 5B							117.0	112.0	113.0					10																	32307245		2203	4300	6503	SO:0001630	splice_region_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32307245T>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2439+1A>T	10.37:g.32307245T>A						KIF5B_ENST00000493889.1_Intron	p.K813_splice	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			22	2895	-		Prostate(175;0.0137)	813					A0AVB2|Q5VZ85	Splice_Site	SNP	ENST00000302418.4	37	c.2439_splice	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230734	0.79688	.	.	ENSG00000170759	ENST00000302418	T	0.79247	-1.25	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	M	0.87547	2.89	0.58432	D	0.999991	D	0.76494	0.999	D	0.70227	0.968	D	0.91082	0.4900	10	0.87932	D	0	.	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813	P33176	KINH_HUMAN	M	813	ENSP00000307078:K813M	ENSP00000307078:K813M	K	-	2	0	KIF5B	32347251	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.225000	0.72271	2.047000	0.60756	0.482000	0.46254	AAG		0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	Missense_Mutation	88	158	0	0	0	0.870114	0	88	158				
GEMIN5	25929	broad.mit.edu	37	5	154268882	154268882	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:154268882T>C	ENST00000285873.7	-	27	4433	c.4358A>G	c.(4357-4359)aAg>aGg	p.K1453R		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1453					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACTCTTACCTTAATGCTCTC	0.378																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.e27+1		gem (nuclear organelle) associated protein 5							123.0	114.0	117.0					5																	154268882		2203	4300	6503	SO:0001630	splice_region_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154268882T>C	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4359+1A>G	5.37:g.154268882T>C							p.K1453_splice	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		27	4433	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1453					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Splice_Site	SNP	ENST00000285873.7	37	c.4359_splice	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755960	0.69648	.	.	ENSG00000082516	ENST00000285873	T	0.74632	-0.86	5.91	5.91	0.95273	.	0.111728	0.64402	D	0.000009	D	0.82779	0.5111	L	0.55103	1.725	0.45733	D	0.99863	D;D	0.71674	0.998;0.998	D;D	0.77004	0.989;0.989	T	0.82508	-0.0422	10	0.44086	T	0.13	-21.622	14.5767	0.68252	0.0:0.0:0.0:1.0	.	1452;1453	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	R	1453	ENSP00000285873:K1453R	ENSP00000285873:K1453R	K	-	2	0	GEMIN5	154249075	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.552000	0.60747	2.263000	0.75096	0.528000	0.53228	AAG		0.378	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		Missense_Mutation	53	109	0	0	0	0.870114	0	53	109				
CCDC91	55297	broad.mit.edu	37	12	28460651	28460651	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:28460651T>C	ENST00000545336.1	+	9	964	c.545T>C	c.(544-546)aTt>aCt	p.I182T	CCDC91_ENST00000381256.1_Missense_Mutation_p.I182T|CCDC91_ENST00000539107.1_Missense_Mutation_p.I182T|CCDC91_ENST00000306172.5_Missense_Mutation_p.I152T|CCDC91_ENST00000381259.1_Missense_Mutation_p.I182T|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	182					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAAGAGGCCATTTCTTTTCAA	0.303																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(544-546)aTt>aCt		coiled-coil domain containing 91							61.0	64.0	63.0					12																	28460651		2202	4292	6494	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28460651T>C	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.545T>C	12.37:g.28460651T>C	ENSP00000438040:p.Ile182Thr					CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.I182T|CCDC91_ENST00000306172.5_Missense_Mutation_p.I152T|CCDC91_ENST00000381256.1_Missense_Mutation_p.I182T|CCDC91_ENST00000539107.1_Missense_Mutation_p.I182T	p.I182T			Q7Z6B0	CCD91_HUMAN			9	964	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		182					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.545T>C	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625359	0.46840	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.39229	1.09;1.36;1.36;1.36;1.36;1.09;1.34	5.32	5.32	0.75619	.	0.674836	0.13532	N	0.380830	T	0.26268	0.0641	N	0.08118	0	0.24200	N	0.995511	B;B;B	0.22414	0.02;0.069;0.069	B;B;B	0.21360	0.015;0.022;0.034	T	0.19451	-1.0305	10	0.66056	D	0.02	-4.6951	11.9355	0.52870	0.0:0.0:0.0:1.0	.	182;182;152	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.;CCD91_HUMAN;.	T	182;182;182;182;182;182;152	ENSP00000440513:I182T;ENSP00000445660:I182T;ENSP00000438040:I182T;ENSP00000442544:I182T;ENSP00000370658:I182T;ENSP00000370655:I182T;ENSP00000305075:I152T	ENSP00000305075:I152T	I	+	2	0	CCDC91	28351918	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	4.325000	0.59234	2.127000	0.65507	0.477000	0.44152	ATT		0.303	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		58	103	0	0	0	0.870114	0	58	103				
ABLIM2	84448	broad.mit.edu	37	4	8021390	8021390	+	Missense_Mutation	SNP	C	C	T	rs370025292		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:8021390C>T	ENST00000341937.5	-	13	1343	c.1279G>A	c.(1279-1281)Gta>Ata	p.V427I	ABLIM2_ENST00000296372.8_Missense_Mutation_p.V427I|ABLIM2_ENST00000515079.1_5'Flank|ABLIM2_ENST00000318888.4_Missense_Mutation_p.V161I|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.V427I|ABLIM2_ENST00000514025.1_Missense_Mutation_p.V161I|ABLIM2_ENST00000361581.5_Missense_Mutation_p.V427I|ABLIM2_ENST00000447017.2_Missense_Mutation_p.V460I|ABLIM2_ENST00000361737.5_Intron	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	427					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTATCTTTTACGCCAGTGTCT	0.468																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(481-483)Gta>Ata		actin binding LIM protein family, member 2		C	ILE/VAL,ILE/VAL,ILE/VAL,,,,	0,3136		0,0,1568	97.0	96.0	96.0		1378,1279,1279,,,,	2.6	1.0	4		96	1,7163		0,1,3581	no	missense,missense,missense,intron,intron,intron,intron	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	29,29,29,,,,	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	probably-damaging,probably-damaging,probably-damaging,,,,	460/646,427/612,427/573,,,,	8021390	1,10299	1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8021390C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1279G>A	4.37:g.8021390C>T	ENSP00000342813:p.Val427Ile					ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.V427I|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.V427I|ABLIM2_ENST00000296372.8_Missense_Mutation_p.V427I|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.V427I|ABLIM2_ENST00000514025.1_Missense_Mutation_p.V161I|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.V460I	p.V161I			Q6H8Q1	ABLM2_HUMAN			13	1352	-			427			LIM zinc-binding 3.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.481G>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199542	0.22121	0.0	1.4E-4	ENSG00000163995	ENST00000400045;ENST00000296372;ENST00000545242;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277	T;T;T;T;T;T;T;T	0.44083	1.85;1.77;0.93;0.93;1.8;1.86;1.77;0.94	4.36	2.6	0.31112	.	0.154986	0.43110	N	0.000608	T	0.44477	0.1295	L	0.38692	1.165	0.53005	D	0.999965	D;B;P;B;D	0.89917	0.997;0.384;0.777;0.347;1.0	P;B;B;B;D	0.80764	0.847;0.066;0.358;0.054;0.994	T	0.46148	-0.9212	10	0.02654	T	1	.	9.8924	0.41298	0.0:0.8325:0.0:0.1675	.	427;427;161;427;460	Q6H8Q1-2;Q6H8Q1;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;ABLM2_HUMAN;.;.;.	I	459;427;427;161;161;460;427;427;228	ENSP00000296372:V427I;ENSP00000441255:V427I;ENSP00000317020:V161I;ENSP00000423661:V161I;ENSP00000393511:V460I;ENSP00000342813:V427I;ENSP00000355003:V427I;ENSP00000421718:V228I	ENSP00000296372:V427I	V	-	1	0	ABLIM2	8072290	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.335000	0.43929	0.397000	0.25310	0.555000	0.69702	GTA		0.468	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		29	18	0	0	0	0.750413	0	29	18				
DHRS4	10901	broad.mit.edu	37	14	24424297	24424297	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24424297T>G	ENST00000313250.5	+	2	385	c.182T>G	c.(181-183)gTc>gGc	p.V61G	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43G|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61G|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61G|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61G|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61G|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43G|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61G|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43G|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43G|DHRS4_ENST00000558581.1_Missense_Mutation_p.V61G	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	61					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CATGTGGTCGTCAGCAGCCGG	0.662																																						ENST00000313250.5																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(181-183)gTc>gGc		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)						52.0	58.0	56.0					14																	24424297		2203	4299	6502	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424297T>G	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.182T>G	14.37:g.24424297T>G	ENSP00000326219:p.Val61Gly					DHRS4_ENST00000558581.1_Missense_Mutation_p.V61G|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61G|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43G|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61G|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43G|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61G|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61G|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43G|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43G|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61G	p.V61G	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	385	+			61					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.182T>G	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046017	0.75846	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.72;1.86;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.48	3.48	0.39840	NAD(P)-binding domain (1);	0.405922	0.24573	N	0.037373	D	0.91932	0.7445	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D;D	0.76494	0.987;0.995;0.999;0.999;0.977;0.992	P;D;D;D;D;D	0.77004	0.888;0.972;0.989;0.989;0.937;0.984	D	0.91842	0.5484	10	0.87932	D	0	.	10.0271	0.42079	0.0:0.0:0.0:1.0	.	61;61;61;61;61;61	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	G	61;43;43;43;43;61;61;61	ENSP00000326219:V61G;ENSP00000404147:V43G;ENSP00000380263:V43G;ENSP00000311993:V43G;ENSP00000372209:V43G;ENSP00000380265:V61G;ENSP00000380264:V61G;ENSP00000440508:V61G	ENSP00000311993:V43G	V	+	2	0	DHRS4	23494137	1.000000	0.71417	0.933000	0.37362	0.915000	0.54546	7.050000	0.76620	1.466000	0.48025	0.392000	0.25879	GTC		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			47	26	0	0	0	0.870114	0	47	26				
KIF3C	3797	broad.mit.edu	37	2	26203973	26203973	+	Missense_Mutation	SNP	C	C	T	rs368483822		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:26203973C>T	ENST00000264712.3	-	1	1393	c.814G>A	c.(814-816)Ggt>Agt	p.G272S	KIF3C_ENST00000405914.1_Missense_Mutation_p.G272S	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	272	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Poly-Gly.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccgccaccaccgccaccCGAG	0.627																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(814-816)Ggt>Agt		kinesin family member 3C		C	SER/GLY	0,4400		0,0,2200	34.0	35.0	34.0		814	0.8	0.0	2		34	1,8589		0,1,4294	no	missense	KIF3C	NM_002254.6	56	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	272/794	26203973	1,12989	2200	4295	6495	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203973C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.814G>A	2.37:g.26203973C>T	ENSP00000264712:p.Gly272Ser					KIF3C_ENST00000405914.1_Missense_Mutation_p.G272S	p.G272S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1393	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		272			Kinesin-motor.|Poly-Gly.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.814G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.527195	0.00959	0.0	1.16E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.71698	-0.59;-0.59	2.69	0.781	0.18561	Kinesin, motor domain (3);	0.337533	0.25654	N	0.029192	T	0.42832	0.1220	N	0.08118	0	0.09310	N	1	B;B	0.24963	0.115;0.115	B;B	0.13407	0.009;0.009	T	0.22487	-1.0215	10	0.23891	T	0.37	.	7.8405	0.29395	0.0:0.8466:0.0:0.1534	.	272;272	B7ZM25;O14782	.;KIF3C_HUMAN	S	272;78;272	ENSP00000264712:G272S;ENSP00000385030:G272S	ENSP00000264712:G272S	G	-	1	0	KIF3C	26057477	.	.	0.000000	0.03702	0.005000	0.04900	.	.	0.170000	0.19704	-1.063000	0.02288	GGT		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			9	14	0	0	0	0.608945	0	9	14				
VWF	7450	broad.mit.edu	37	12	6076653	6076653	+	Splice_Site	SNP	A	A	G	rs112100565		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6076653A>G	ENST00000261405.5	-	47	8140	c.7886T>C	c.(7885-7887)cTg>cCg	p.L2629P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2629	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTCTTACCAGGGGGCAGGG	0.572																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.e47+1		von Willebrand factor	Antihemophilic Factor(DB00025)						105.0	101.0	102.0					12																	6076653		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6076653A>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7887+1T>C	12.37:g.6076653A>G							p.L2629_splice	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			47	8140	-			2629			VWFC 3.		Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.7887_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600232	0.28534	.	.	ENSG00000110799	ENST00000261405	T	0.65178	-0.14	5.04	-8.41	0.00961	von Willebrand factor, type C (4);	1.473130	0.04959	N	0.461631	T	0.46927	0.1418	L	0.60455	1.87	0.46113	D	0.998876	B	0.02656	0.0	B	0.06405	0.002	T	0.30387	-0.9980	10	0.30854	T	0.27	.	1.3328	0.02138	0.2006:0.1155:0.3162:0.3676	.	2629	P04275	VWF_HUMAN	P	2629	ENSP00000261405:L2629P	ENSP00000261405:L2629P	L	-	2	0	VWF	5946914	0.000000	0.05858	0.002000	0.10522	0.265000	0.26407	-2.608000	0.00887	-1.289000	0.02375	0.459000	0.35465	CTG		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	49	111	0	0	0	0.870114	0	49	111				
ERBB2	2064	broad.mit.edu	37	17	37882078	37882078	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:37882078C>A	ENST00000269571.5	+	23	3003	c.2844C>A	c.(2842-2844)acC>acA	p.T948T	ERBB2_ENST00000406381.2_Silent_p.T918T|ERBB2_ENST00000540147.1_Silent_p.T918T|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Silent_p.T933T|ERBB2_ENST00000445658.2_Silent_p.T672T|ERBB2_ENST00000584601.1_Silent_p.T918T|ERBB2_ENST00000584450.1_Silent_p.T948T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	948	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCATCTGCACCATTGATGTCT	0.612		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2752-2754)acC>acA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						56.0	54.0	54.0					17																	37882078		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882078C>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2844C>A	17.37:g.37882078C>A		TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Silent_p.T933T|ERBB2_ENST00000584601.1_Silent_p.T918T|ERBB2_ENST00000584450.1_Silent_p.T948T|ERBB2_ENST00000540147.1_Silent_p.T918T|ERBB2_ENST00000269571.5_Silent_p.T948T|ERBB2_ENST00000445658.2_Silent_p.T672T	p.T918T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	25	3264	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	948			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2754C>A	CCDS32642.1																																																																																				0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			18	41	1	0	8.28177e-16	0.557998	8.88466e-16	18	41				
NPEPPS	9520	broad.mit.edu	37	17	45669320	45669320	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:45669320A>G	ENST00000322157.4	+	11	1497		c.e11-1		NPEPPS_ENST00000530173.1_Splice_Site|NPEPPS_ENST00000525037.1_Splice_Site|NPEPPS_ENST00000544660.1_Splice_Site	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACTGTCTGCCAGGTCAGTGTG	0.413																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.e11-1		aminopeptidase puromycin sensitive							145.0	92.0	110.0					17																	45669320		2065	4186	6251	SO:0001630	splice_region_variant	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45669320A>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1261-1A>G	17.37:g.45669320A>G						NPEPPS_ENST00000530173.1_Splice_Site|NPEPPS_ENST00000544660.1_Splice_Site|NPEPPS_ENST00000525037.1_Splice_Site		NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			11	1497	+								B7Z463|Q6P145|Q9NP16|Q9UEM2	Splice_Site	SNP	ENST00000322157.4	37		CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277187	0.80580	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPEPPS	43024319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	.		0.413	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310	Intron	7	105	0	0	0	0.307466	0	7	105				
NCOA3	8202	broad.mit.edu	37	20	46281225	46281225	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:46281225G>A	ENST00000371998.3	+	21	4213	c.4022G>A	c.(4021-4023)gGt>gAt	p.G1341D	NCOA3_ENST00000372004.3_Missense_Mutation_p.G1337D|NCOA3_ENST00000371997.3_Missense_Mutation_p.G1332D|NCOA3_ENST00000341724.6_Missense_Mutation_p.G1267D			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1341					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAGAATGGGTCCCTCCCAG	0.483																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(4009-4011)gGt>gAt		nuclear receptor coactivator 3							134.0	112.0	120.0					20																	46281225		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46281225G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4022G>A	20.37:g.46281225G>A	ENSP00000361066:p.Gly1341Asp					NCOA3_ENST00000371997.3_Missense_Mutation_p.G1332D|NCOA3_ENST00000371998.3_Missense_Mutation_p.G1341D|NCOA3_ENST00000341724.6_Missense_Mutation_p.G1267D	p.G1337D	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			21	4226	+			1341					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.4010G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420798	0.83559	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.25414	1.8;4.51;4.52;1.8	5.23	4.27	0.50696	Domain of unknown function DUF1518 (1);	0.153849	0.45867	D	0.000331	T	0.47820	0.1466	M	0.63843	1.955	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.988;0.993	T	0.51356	-0.8716	10	0.87932	D	0	-12.9147	14.4658	0.67482	0.0:0.2802:0.7198:0.0	.	1341;1344;1336;1337;1341	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	D	1337;1267;1337;1341;1332	ENSP00000342123:G1267D;ENSP00000361073:G1337D;ENSP00000361066:G1341D;ENSP00000361065:G1332D	ENSP00000345671:G1337D	G	+	2	0	NCOA3	45714632	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	3.434000	0.52841	1.299000	0.44798	0.655000	0.94253	GGT		0.483	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	135	0	0	0	0.150653	0	4	135				
DPCD	25911	broad.mit.edu	37	10	103360984	103360984	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:103360984A>G	ENST00000370151.4	+	4	344	c.295A>G	c.(295-297)Aag>Gag	p.K99E	MIR3158-1_ENST00000583596.1_RNA|DPCD_ENST00000370148.2_Missense_Mutation_p.K99E|DPCD_ENST00000370147.1_Missense_Mutation_p.K99E	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	99					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						CAAGGACACCAAGATGAGTTT	0.537																																						ENST00000370151.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(295-297)Aag>Gag		deleted in primary ciliary dyskinesia homolog (mouse)							158.0	122.0	134.0					10																	103360984		2203	4300	6503	SO:0001583	missense	25911						protein binding	g.chr10:103360984A>G		CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.295A>G	10.37:g.103360984A>G	ENSP00000359170:p.Lys99Glu					DPCD_ENST00000370148.2_Missense_Mutation_p.K99E|DPCD_ENST00000370147.1_Missense_Mutation_p.K99E	p.K99E	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN			4	344	+			99					A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	37	c.295A>G	CCDS7514.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187561	0.57909	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148;ENST00000370149;ENST00000434727	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.95	5.95	0.96441	.	0.102116	0.64402	D	0.000003	T	0.45538	0.1347	M	0.76938	2.355	0.52501	D	0.999952	P	0.50272	0.933	P	0.44811	0.461	T	0.53373	-0.8448	10	0.72032	D	0.01	-9.0198	13.0801	0.59109	0.8576:0.1424:0.0:0.0	.	99	Q9BVM2	DPCD_HUMAN	E	99;99;99;64;63	ENSP00000359170:K99E;ENSP00000359166:K99E;ENSP00000359167:K99E;ENSP00000403505:K63E	ENSP00000359166:K99E	K	+	1	0	DPCD	103350974	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.281000	0.65609	2.276000	0.75962	0.528000	0.53228	AAG		0.537	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			38	91	0	0	0	0.870114	0	38	91				
NES	10763	broad.mit.edu	37	1	156642564	156642564	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:156642564A>G	ENST00000368223.3	-	4	1548	c.1416T>C	c.(1414-1416)ccT>ccC	p.P472P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	472	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTGGTCAGGGCTGAGGG	0.617																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1414-1416)ccT>ccC		nestin							80.0	80.0	80.0					1																	156642564		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642564A>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1416T>C	1.37:g.156642564A>G							p.P472P	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1548	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		472			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1416T>C	CCDS1151.1																																																																																				0.617	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		72	134	0	0	0	0.870114	0	72	134				
ATF7IP	55729	broad.mit.edu	37	12	14628904	14628904	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:14628904T>C	ENST00000540793.1	+	10	3096		c.e10+2		ATF7IP_ENST00000544627.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTTCACAAGGTACTTCAATAG	0.363																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.e11+2		activating transcription factor 7 interacting protein							136.0	129.0	131.0					12																	14628904		2203	4300	6503	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14628904T>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2941+2T>C	12.37:g.14628904T>C						ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site				Q6VMQ6	MCAF1_HUMAN			11	3285	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37		CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802573	0.50315	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6965	0.69126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14520171	1.000000	0.71417	0.999000	0.59377	0.457000	0.32468	5.045000	0.64220	2.205000	0.71048	0.477000	0.44152	.		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	24	54	0	0	0	0.717897	0	24	54				
ZNF727	442319	broad.mit.edu	37	7	63529332	63529332	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:63529332T>C	ENST00000550760.3	+	2	246	c.67T>C	c.(67-69)Tct>Cct	p.S23P	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATGCCTGGACTCTGCTCAGCA	0.418																																						ENST00000550760.3																			0				endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(67-69)Tct>Cct		zinc finger protein 727							110.0	99.0	102.0					7																	63529332		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63529332T>C			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.67T>C	7.37:g.63529332T>C	ENSP00000447987:p.Ser23Pro					RP11-3N2.13_ENST00000445978.1_RNA	p.S23P	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN			2	246	+			23			KRAB.			Missense_Mutation	SNP	ENST00000550760.3	37	c.67T>C	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	T	6.245	0.413346	0.11812	.	.	ENSG00000257482	ENST00000550760	T	0.01295	5.04	0.149	0.149	0.14863	Krueppel-associated box (4);	.	.	.	.	T	0.00580	0.0019	N	0.00471	-1.455	0.09310	N	0.999998	P	0.43607	0.812	P	0.45195	0.473	T	0.41875	-0.9484	8	.	.	.	.	2.9181	0.05760	3.0E-4:1.0E-4:0.4884:0.5112	.	23	A8MUV8	ZN727_HUMAN	P	23	ENSP00000447987:S23P	.	S	+	1	0	ZNF727	63166767	0.000000	0.05858	0.189000	0.23252	0.191000	0.23601	-0.811000	0.04500	0.166000	0.19597	0.164000	0.16699	TCT		0.418	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522		7	12	0	0	0	0.307466	0	7	12				
CDC42BPG	55561	broad.mit.edu	37	11	64606329	64606329	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64606329C>T	ENST00000342711.5	-	8	921	c.922G>A	c.(922-924)Gcc>Acc	p.A308T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGGTCTTGGGCGCTGGCTGGC	0.662																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(922-924)Gcc>Acc		CDC42 binding protein kinase gamma (DMPK-like)							33.0	31.0	32.0					11																	64606329		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606329C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.922G>A	11.37:g.64606329C>T	ENSP00000345133:p.Ala308Thr						p.A308T	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			8	921	-			308			Protein kinase.			Missense_Mutation	SNP	ENST00000342711.5	37	c.922G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432484	0.83776	.	.	ENSG00000171219	ENST00000342711	T	0.68025	-0.3	4.57	4.57	0.56435	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	0.52532	D	0.000067	T	0.79341	0.4429	M	0.63169	1.94	0.42896	D	0.994218	D	0.89917	1.0	D	0.85130	0.997	T	0.82228	-0.0561	10	0.87932	D	0	.	15.222	0.73320	0.0:1.0:0.0:0.0	.	308	Q6DT37	MRCKG_HUMAN	T	308	ENSP00000345133:A308T	ENSP00000345133:A308T	A	-	1	0	CDC42BPG	64362905	1.000000	0.71417	0.993000	0.49108	0.620000	0.37586	7.556000	0.82233	2.273000	0.75805	0.561000	0.74099	GCC		0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		15	24	0	0	0	0.557998	0	15	24				
SPTBN2	6712	broad.mit.edu	37	11	66453855	66453855	+	Intron	SNP	G	G	A	rs370403561		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66453855G>A	ENST00000533211.1	-	37	7271				SPTBN2_ENST00000529997.1_Missense_Mutation_p.S2318L|SPTBN2_ENST00000309996.2_Intron			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2						actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGAGGAACACGAAGGACAGCT	0.517																																						ENST00000529997.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6952-6954)tCg>tTg		spectrin, beta, non-erythrocytic 2							248.0	222.0	231.0					11																	66453855		2200	4295	6495	SO:0001627	intron_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66453855G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6939+13C>T	11.37:g.66453855G>A						SPTBN2_ENST00000309996.2_Intron|SPTBN2_ENST00000533211.1_Intron	p.S2318L			O15020	SPTN2_HUMAN			35	6952	-			2318			PH.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6953C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323497	0.41096	.	.	ENSG00000173898	ENST00000529997	T	0.70631	-0.5	4.86	-3.98	0.04082	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.47548	-0.9109	6	0.25751	T	0.34	.	6.3542	0.21393	0.6778:0.1221:0.2001:0.0	.	.	.	.	L	2318	ENSP00000433593:S2318L	ENSP00000433593:S2318L	S	-	2	0	SPTBN2	66210431	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.626000	0.05527	-0.573000	0.05998	-0.880000	0.02959	TCG		0.517	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		59	127	0	0	0	0.870114	0	59	127				
NCOA4	8031	broad.mit.edu	37	10	51584973	51584973	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:51584973G>A	ENST00000443446.1	+	8	1301	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	NCOA4_ENST00000374082.1_Missense_Mutation_p.V358M|NCOA4_ENST00000452682.1_Missense_Mutation_p.V374M|NCOA4_ENST00000430396.2_Missense_Mutation_p.V258M|NCOA4_ENST00000438493.1_Missense_Mutation_p.V374M|NCOA4_ENST00000414907.2_Missense_Mutation_p.V192M|NCOA4_ENST00000374087.4_Missense_Mutation_p.V358M|NCOA4_ENST00000344348.6_Missense_Mutation_p.V358M	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	358					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCCAAAGGTGTGGAGATTGA	0.473			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1120-1122)Gtg>Atg		nuclear receptor coactivator 4							50.0	50.0	50.0					10																	51584973		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584973G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1072G>A	10.37:g.51584973G>A	ENSP00000390713:p.Val358Met					NCOA4_ENST00000443446.1_Missense_Mutation_p.V358M|NCOA4_ENST00000414907.2_Missense_Mutation_p.V192M|NCOA4_ENST00000344348.6_Missense_Mutation_p.V358M|NCOA4_ENST00000374087.4_Missense_Mutation_p.V358M|NCOA4_ENST00000374082.1_Missense_Mutation_p.V358M|NCOA4_ENST00000438493.1_Missense_Mutation_p.V374M|NCOA4_ENST00000430396.2_Missense_Mutation_p.V258M	p.V374M	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1372	+			358					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.1120G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617520	0.66787	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.03	5.13	0.70059	.	0.176683	0.48767	N	0.000166	T	0.47358	0.1441	M	0.74258	2.255	0.44366	D	0.997263	D;D;D;D	0.53312	0.959;0.959;0.959;0.959	P;P;P;P	0.47744	0.556;0.556;0.556;0.556	T	0.50533	-0.8817	9	.	.	.	-14.3645	7.7289	0.28775	0.14:0.1352:0.7248:0.0	.	258;374;374;358	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	M	374;374;258;358;192;358;358;358	ENSP00000405146:V374M;ENSP00000395465:V374M;ENSP00000393053:V258M;ENSP00000363200:V358M;ENSP00000411018:V192M;ENSP00000344552:V358M;ENSP00000363195:V358M;ENSP00000390713:V358M	.	V	+	1	0	NCOA4	51254979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.466000	0.45084	1.562000	0.49601	0.655000	0.94253	GTG		0.473	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		19	51	0	0	0	0.539581	0	19	51				
MAP4K4	9448	broad.mit.edu	37	2	102501664	102501664	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:102501664T>A	ENST00000347699.4	+	26	3101	c.3101T>A	c.(3100-3102)aTc>aAc	p.I1034N	MAP4K4_ENST00000324219.4_Missense_Mutation_p.I1115N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I1067N|MAP4K4_ENST00000456652.1_Missense_Mutation_p.I833N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I1074N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.I837N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I953N|MAP4K4_ENST00000413150.2_Missense_Mutation_p.I949N	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1034	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATGAAAGAATCAAATTTCTG	0.368																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2845-2847)aTc>aAc		mitogen-activated protein kinase kinase kinase kinase 4							62.0	58.0	60.0					2																	102501664		1822	4079	5901	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102501664T>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3101T>A	2.37:g.102501664T>A	ENSP00000314363:p.Ile1034Asn					MAP4K4_ENST00000456652.1_Missense_Mutation_p.I833N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I1067N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I1074N|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I1115N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I953N|MAP4K4_ENST00000347699.4_Missense_Mutation_p.I1034N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.I837N	p.I949N	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			25	2901	+			1034			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.2846T>A	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.722978|4.722978	0.89298|0.89298	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.04502|.	3.61;3.61;3.61;3.61;3.61;3.61;3.61;3.61;3.61|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Citron-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78916|0.78916	0.4359|0.4359	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.996;0.991;1.0;1.0;0.988;0.999;1.0;0.988;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.994;0.991;0.996;0.997;0.984;0.997;0.997;0.984;0.994;0.999|.	T|T	0.80641|0.80641	-0.1292|-0.1292	10|5	0.87932|.	D|.	0|.	.|.	16.5494|16.5494	0.84464|0.84464	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1074;1030;833;837;952;1034;1067;953;1006;1115|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	N|K	1067;1115;953;837;949;833;1034;965;1074|850	ENSP00000392830:I1067N;ENSP00000313644:I1115N;ENSP00000281111:I953N;ENSP00000303600:I837N;ENSP00000389752:I949N;ENSP00000387370:I833N;ENSP00000314363:I1034N;ENSP00000409720:I965N;ENSP00000343658:I1074N|.	ENSP00000303600:I837N|.	I|N	+|+	2|3	0|2	MAP4K4|MAP4K4	101868096|101868096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.299000|2.299000	0.77371|0.77371	0.528000|0.528000	0.53228|0.53228	ATC|AAT		0.368	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	21	0	0	0	0.184627	0	4	21				
APEH	327	broad.mit.edu	37	3	49721844	49721844	+	IGR	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:49721844A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.V640A	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTGGAGATGACATTCAGCAA	0.582																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1918-1920)gTc>gCc		macrophage stimulating 1 (hepatocyte growth factor-like)							67.0	69.0	68.0					3																	49721844		2202	4300	6502	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721844A>G	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721844A>G							p.V640A	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	17	2280	-			626			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1919T>C	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583425	0.86748	.	.	ENSG00000173531	ENST00000449682	D	0.90004	-2.6	5.46	5.46	0.80206	.	0.000000	0.38272	N	0.001754	D	0.93229	0.7843	M	0.64080	1.96	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.93962	0.7241	10	0.87932	D	0	.	15.5147	0.75815	1.0:0.0:0.0:0.0	.	640	G3XAK1	.	A	640	ENSP00000414287:V640A	ENSP00000414287:V640A	V	-	2	0	MST1	49696848	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	8.397000	0.90193	2.063000	0.61619	0.459000	0.35465	GTC		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			31	54	0	0	0	0.788014	0	31	54				
ZSCAN29	146050	broad.mit.edu	37	15	43656464	43656464	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:43656464C>T	ENST00000396976.2	-	4	1473	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.E446K	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	447					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CATAACCTCTCAGCCACTGCT	0.488																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1339-1341)Gag>Aag		zinc finger and SCAN domain containing 29							100.0	96.0	97.0					15																	43656464		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43656464C>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1339G>A	15.37:g.43656464C>T	ENSP00000380174:p.Glu447Lys					ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.E446K|ZSCAN29_ENST00000396972.1_Intron	p.E447K	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	4	1473	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	447					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1339G>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.671982	0.47781	.	.	ENSG00000140265	ENST00000396976	T	0.42131	0.98	5.22	4.3	0.51218	.	0.083637	0.51477	N	0.000084	T	0.42177	0.1191	L	0.60957	1.885	0.80722	D	1	B;P	0.36199	0.05;0.543	B;B	0.39660	0.094;0.306	T	0.33137	-0.9880	10	0.62326	D	0.03	-8.0512	9.9893	0.41860	0.0:0.7803:0.1391:0.0806	.	446;447	C9K0J8;Q8IWY8	.;ZSC29_HUMAN	K	447	ENSP00000380174:E447K	ENSP00000380174:E447K	E	-	1	0	ZSCAN29	41443756	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.192000	0.42649	0.793000	0.33875	-0.797000	0.03246	GAG		0.488	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		74	126	0	0	0	0.870114	0	74	126				
SETD2	29072	broad.mit.edu	37	3	47155460	47155460	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:47155460T>G	ENST00000409792.3	-	5	4663	c.4621A>C	c.(4621-4623)Aat>Cat	p.N1541H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1541	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACCGTCTATTGGAACAATAA	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4621-4623)Aat>Cat		SET domain containing 2							132.0	131.0	132.0					3																	47155460		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47155460T>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4621A>C	3.37:g.47155460T>G	ENSP00000386759:p.Asn1541His						p.N1541H	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	5	4663	-		Acute lymphoblastic leukemia(5;0.0169)	1541			AWS.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4621A>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368108	0.82463	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.86627	-2.15	5.23	5.23	0.72850	AWS (2);	0.000000	0.64402	D	0.000015	D	0.94291	0.8166	H	0.97023	3.925	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.53549	0.729;0.729	D	0.96100	0.9068	10	0.87932	D	0	.	15.3913	0.74747	0.0:0.0:0.0:1.0	.	1541;1541	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1541	ENSP00000386759:N1541H	ENSP00000386759:N1541H	N	-	1	0	SETD2	47130464	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.632000	0.83247	2.101000	0.63845	0.477000	0.44152	AAT		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		71	67	0	0	0	0.870114	0	71	67				
ZNF638	27332	broad.mit.edu	37	2	71654527	71654527	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:71654527T>C	ENST00000409544.1	+	24	6158	c.5528T>C	c.(5527-5529)aTt>aCt	p.I1843T	ZNF638_ENST00000264447.4_Missense_Mutation_p.I1843T|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.I783T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1843					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAAACCATGATTGAAAGACAC	0.343																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5527-5529)aTt>aCt		zinc finger protein 638							43.0	44.0	44.0					2																	71654527		2202	4298	6500	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654527T>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5528T>C	2.37:g.71654527T>C	ENSP00000386433:p.Ile1843Thr					ZNF638_ENST00000409407.1_Missense_Mutation_p.I783T|ZNF638_ENST00000264447.4_Missense_Mutation_p.I1843T|ZNF638_ENST00000355812.3_3'UTR	p.I1843T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	6158	+			1843					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5528T>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	5.652	0.304951	0.10678	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.30714	1.52;1.52;1.94	5.17	2.82	0.32997	.	0.421149	0.21562	N	0.072558	T	0.14227	0.0344	N	0.17082	0.46	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.08046	-1.0741	10	0.12103	T	0.63	-3.6054	5.1264	0.14886	0.0:0.2448:0.0:0.7552	.	1843;1843	Q14966-3;Q14966	.;ZN638_HUMAN	T	1843;1843;783	ENSP00000264447:I1843T;ENSP00000386433:I1843T;ENSP00000386813:I783T	ENSP00000264447:I1843T	I	+	2	0	ZNF638	71508035	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.556000	0.23438	1.004000	0.39156	0.528000	0.53228	ATT		0.343	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		35	69	0	0	0	0.769981	0	35	69				
ANXA5	308	broad.mit.edu	37	4	122604561	122604561	+	Silent	SNP	G	G	T	rs144170580		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:122604561G>T	ENST00000296511.5	-	5	546	c.261C>A	c.(259-261)ccC>ccA	p.P87P	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Silent_p.P27P	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	87					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AAAGCCGAGAGGGTTTCATCA	0.338																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(259-261)ccC>ccA		annexin A5							101.0	103.0	102.0					4																	122604561		2203	4300	6503	SO:0001819	synonymous_variant	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122604561G>T	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.261C>A	4.37:g.122604561G>T						ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Silent_p.P27P	p.P87P	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			5	546	-			87					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	c.261C>A	CCDS3720.1																																																																																				0.338	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		41	60	1	0	4.10826e-27	0.870114	4.52286e-27	41	60				
CLCN3	1182	broad.mit.edu	37	4	170625248	170625248	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:170625248T>C	ENST00000513761.1	+	10	2222	c.1663T>C	c.(1663-1665)Tgg>Cgg	p.W555R	CLCN3_ENST00000504131.2_Missense_Mutation_p.W538R|CLCN3_ENST00000347613.4_Missense_Mutation_p.W555R|CLCN3_ENST00000360642.3_Missense_Mutation_p.W528R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	555					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCACCACGACTGGTTTATCTT	0.527																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1663-1665)Tgg>Cgg		chloride channel, voltage-sensitive 3							239.0	201.0	214.0					4																	170625248		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170625248T>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1663T>C	4.37:g.170625248T>C	ENSP00000424603:p.Trp555Arg					CLCN3_ENST00000347613.4_Missense_Mutation_p.W555R|CLCN3_ENST00000504131.2_Missense_Mutation_p.W538R|CLCN3_ENST00000360642.3_Missense_Mutation_p.W528R	p.W555R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2222	+		Prostate(90;0.00601)|Renal(120;0.0183)	555					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1663T>C	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413444	0.83449	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89485	-2.51;-2.52;-2.45;-2.49;-2.36	5.22	5.22	0.72569	Chloride channel, core (2);	0.104713	0.64402	D	0.000001	D	0.92482	0.7613	M	0.86178	2.8	0.80722	D	1	B;B;B;B;B	0.31599	0.33;0.302;0.302;0.195;0.282	B;B;B;B;B	0.43889	0.435;0.435;0.435;0.435;0.308	D	0.91820	0.5466	10	0.41790	T	0.15	0.4512	15.4441	0.75216	0.0:0.0:0.0:1.0	.	528;538;528;555;555	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	R	555;555;528;538;528	ENSP00000424603:W555R;ENSP00000261514:W555R;ENSP00000353857:W528R;ENSP00000424540:W538R;ENSP00000425323:W528R	ENSP00000261514:W555R	W	+	1	0	CLCN3	170861823	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.994000	0.88315	2.113000	0.64589	0.449000	0.29647	TGG		0.527	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			47	36	0	0	0	0.870114	0	47	36				
CSRP2	1466	broad.mit.edu	37	12	77257107	77257107	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:77257107A>G	ENST00000311083.5	-	3	253	c.130T>C	c.(130-132)Tta>Cta	p.L44L	CSRP2_ENST00000547435.1_Silent_p.L44L|CSRP2_ENST00000552330.1_Silent_p.L44L|CSRP2_ENST00000546966.1_Silent_p.L44L	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	44	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						GTGCTATCTAAATTTTTCCTG	0.453																																						ENST00000311083.5																			0				kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						c.(130-132)Tta>Cta		cysteine and glycine-rich protein 2							69.0	63.0	65.0					12																	77257107		2203	4300	6503	SO:0001819	synonymous_variant	1466				multicellular organismal development	nucleus	zinc ion binding	g.chr12:77257107A>G	BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.130T>C	12.37:g.77257107A>G						CSRP2_ENST00000552330.1_Silent_p.L44L|CSRP2_ENST00000546966.1_Silent_p.L44L|CSRP2_ENST00000547435.1_Silent_p.L44L	p.L44L	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN			3	253	-			44			LIM zinc-binding 1.		Q93030	Silent	SNP	ENST00000311083.5	37	c.130T>C	CCDS9015.1																																																																																				0.453	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321		41	71	0	0	0	0.819951	0	41	71				
FN3KRP	79672	broad.mit.edu	37	17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458). {ECO:0000305}.			kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(793-795)gGc>gAc		fructosamine 3 kinase related protein							61.0	65.0	64.0					17																	80684911		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80684911G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.794G>A	17.37:g.80684911G>A	ENSP00000269373:p.Gly265Asp					FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	p.G265D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	867	+	Breast(20;0.000523)|all_neural(118;0.0952)		265	G -> C (in Ref. 4; AAH01458).				Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.794G>A	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578636	0.13686	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.50277	0.75;0.75	5.82	3.82	0.43975	Protein kinase-like domain (1);	0.519883	0.25294	N	0.031701	T	0.24470	0.0593	N	0.05031	-0.125	0.24613	N	0.993718	B	0.10296	0.003	B	0.16722	0.016	T	0.12142	-1.0559	10	0.33141	T	0.24	-18.7461	8.1316	0.31031	0.1411:0.1285:0.7304:0.0	.	265	Q9HA64	KT3K_HUMAN	D	265;215	ENSP00000269373:G265D;ENSP00000444994:G215D	ENSP00000269373:G265D	G	+	2	0	FN3KRP	78278200	0.830000	0.29337	0.918000	0.36340	0.024000	0.10985	2.387000	0.44389	1.472000	0.48140	0.655000	0.94253	GGC		0.502	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		5	167	0	0	0	0.184627	0	5	167				
USP50	373509	broad.mit.edu	37	15	50833262	50833262	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:50833262T>C	ENST00000532404.1	-	4	817	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	220	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GGAGCATTCATATTTGGATGG	0.443																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(643-645)tAt>tGt		ubiquitin specific peptidase 50							111.0	104.0	106.0					15																	50833262		1915	4131	6046	SO:0001583	missense	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50833262T>C	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.644A>G	15.37:g.50833262T>C	ENSP00000434676:p.Tyr215Cys					USP50_ENST00000530218.1_Intron	p.Y215C	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	4	817	-			215					E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	c.644A>G	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	T	3.470	-0.108162	0.06924	.	.	ENSG00000170236	ENST00000532404	T	0.29655	1.56	5.45	1.36	0.22044	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.502550	0.21003	N	0.081832	T	0.23210	0.0561	L	0.49571	1.57	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.16541	-1.0399	10	0.41790	T	0.15	-8.2401	5.0162	0.14337	0.0:0.1767:0.2944:0.5289	.	220	Q70EL3	UBP50_HUMAN	C	215	ENSP00000434676:Y215C	ENSP00000434676:Y215C	Y	-	2	0	USP50	48620554	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	0.140000	0.16056	0.344000	0.23847	0.459000	0.35465	TAT		0.443	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			26	44	0	0	0	0.681144	0	26	44				
GLRA1	2741	broad.mit.edu	37	5	151239530	151239530	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:151239530C>A	ENST00000455880.2	-	4	578	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	GLRA1_ENST00000545569.1_Missense_Mutation_p.D15Y|GLRA1_ENST00000274576.4_Missense_Mutation_p.D98Y|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	98					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGCGGGGGTCGTTCCATTGC	0.517																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(292-294)Gac>Tac		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						77.0	81.0	80.0					5																	151239530		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151239530C>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.292G>T	5.37:g.151239530C>A	ENSP00000411593:p.Asp98Tyr					GLRA1_ENST00000455880.2_Missense_Mutation_p.D98Y|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.D15Y	p.D98Y	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	584	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	98					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.292G>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766820	0.90020	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.93763	-3.28;-3.28;-3.28	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel ligand-binding (3);	0.148304	0.64402	D	0.000017	D	0.98298	0.9436	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.988	D	0.99425	1.0934	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	98;15;98	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	Y	98;98;15	ENSP00000274576:D98Y;ENSP00000411593:D98Y;ENSP00000445913:D15Y	ENSP00000274576:D98Y	D	-	1	0	GLRA1	151219723	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	7.616000	0.83018	2.677000	0.91161	0.563000	0.77884	GAC		0.517	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			28	62	1	0	1.06801e-11	0.740014	1.13131e-11	28	62				
DNAH9	1770	broad.mit.edu	37	17	11550505	11550505	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:11550505T>G	ENST00000262442.4	+	12	2155	c.2087T>G	c.(2086-2088)tTt>tGt	p.F696C	DNAH9_ENST00000454412.2_Missense_Mutation_p.F696C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	696	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTATCAACTTTAACCCACAG	0.418																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2086-2088)tTt>tGt		dynein, axonemal, heavy chain 9							157.0	152.0	154.0					17																	11550505		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11550505T>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2087T>G	17.37:g.11550505T>G	ENSP00000262442:p.Phe696Cys					DNAH9_ENST00000454412.2_Missense_Mutation_p.F696C	p.F696C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	12	2155	+		Breast(5;0.0122)|all_epithelial(5;0.131)	696			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2087T>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198123	0.79015	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.73681	-0.77;-0.77	5.33	5.33	0.75918	Dynein heavy chain, domain-1 (1);	2.452250	0.01246	N	0.008749	D	0.90631	0.7062	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76206	-0.3044	10	0.87932	D	0	.	15.6075	0.76685	0.0:0.0:0.0:1.0	.	696	Q9NYC9	DYH9_HUMAN	C	696	ENSP00000262442:F696C;ENSP00000414874:F696C	ENSP00000262442:F696C	F	+	2	0	DNAH9	11491230	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.971000	0.76105	2.154000	0.67381	0.533000	0.62120	TTT		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		128	199	0	0	0	0.870114	0	128	199				
IGFBP7	3490	broad.mit.edu	37	4	57898642	57898642	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:57898642G>A	ENST00000295666.4	-	4	812	c.779C>T	c.(778-780)tCa>tTa	p.S260L	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.S260L	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	260	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AATTTTTGCTGATGCTGAAGC	0.373																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(778-780)tCa>tTa		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						142.0	131.0	135.0					4																	57898642		2203	4300	6503	SO:0001583	missense	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57898642G>A	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.779C>T	4.37:g.57898642G>A	ENSP00000295666:p.Ser260Leu					IGFBP7_ENST00000537922.1_Missense_Mutation_p.S260L|IGFBP7_ENST00000512512.1_5'UTR	p.S260L	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN			4	812	-	Glioma(25;0.08)|all_neural(26;0.181)		260			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	c.779C>T	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241604	0.39598	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.69040	-0.37;-0.37	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.581004	0.17100	N	0.187050	T	0.63283	0.2498	L	0.45581	1.43	0.29859	N	0.827765	B;B	0.26002	0.139;0.139	B;B	0.25405	0.06;0.06	T	0.59690	-0.7407	10	0.37606	T	0.19	-1.4685	18.043	0.89324	0.0:0.0:1.0:0.0	.	260;260	B4E1N2;Q16270	.;IBP7_HUMAN	L	260	ENSP00000295666:S260L;ENSP00000444146:S260L	ENSP00000295666:S260L	S	-	2	0	IGFBP7	57593399	1.000000	0.71417	0.559000	0.28332	0.724000	0.41520	6.398000	0.73244	2.689000	0.91719	0.655000	0.94253	TCA		0.373	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			58	46	0	0	0	0.870114	0	58	46				
PLEKHH2	130271	broad.mit.edu	37	2	43973054	43973054	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:43973054C>T	ENST00000282406.4	+	24	3715	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1202	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAACAGCAGCCTGGAAAATGT	0.368																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3604-3606)cCt>cTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							73.0	67.0	69.0					2																	43973054		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43973054C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3605C>T	2.37:g.43973054C>T	ENSP00000282406:p.Pro1202Leu						p.P1202L	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			24	3715	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1202			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3605C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840367	0.51057	.	.	ENSG00000152527	ENST00000282406	T	0.48836	0.8	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.212494	0.45126	D	0.000391	T	0.47432	0.1445	L	0.46157	1.445	0.58432	D	0.999994	B	0.13145	0.007	B	0.19391	0.025	T	0.33497	-0.9866	10	0.49607	T	0.09	-22.2123	19.9187	0.97077	0.0:1.0:0.0:0.0	.	1202	Q8IVE3	PKHH2_HUMAN	L	1202	ENSP00000282406:P1202L	ENSP00000282406:P1202L	P	+	2	0	PLEKHH2	43826558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.716000	0.92895	0.557000	0.71058	CCT		0.368	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		31	52	0	0	0	0.779181	0	31	52				
ST18	9705	broad.mit.edu	37	8	53030917	53030917	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:53030917A>G	ENST00000276480.7	-	24	3523	c.2840T>C	c.(2839-2841)aTg>aCg	p.M947T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	947					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAGTTTCATCATATCTGCTTC	0.303																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2839-2841)aTg>aCg		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							192.0	188.0	189.0					8																	53030917		2201	4297	6498	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030917A>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2840T>C	8.37:g.53030917A>G	ENSP00000276480:p.Met947Thr						p.M947T	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			24	3523	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	947					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2840T>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799129	0.70567	.	.	ENSG00000147488	ENST00000276480	T	0.56941	0.43	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.75204	-0.3400	10	0.87932	D	0	-20.0087	15.2739	0.73726	1.0:0.0:0.0:0.0	.	947	O60284	ST18_HUMAN	T	947	ENSP00000276480:M947T	ENSP00000276480:M947T	M	-	2	0	ST18	53193470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.905000	0.92613	2.022000	0.59522	0.482000	0.46254	ATG		0.303	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			47	108	0	0	0	0.870114	0	47	108				
NFS1	9054	broad.mit.edu	37	20	34262295	34262295	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:34262295C>T	ENST00000374092.4	-	10	1183	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	NFS1_ENST00000540053.1_Silent_p.K169K|NFS1_ENST00000397425.1_Silent_p.K311K|NFS1_ENST00000541387.1_Silent_p.K320K|NFS1_ENST00000374085.1_Silent_p.K311K|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.R31K|NFS1_ENST00000498084.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	371					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	AGGCAACGTCCTTCAGTGCCA	0.517																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1111-1113)aaG>aaA		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						122.0	111.0	115.0					20																	34262295		2203	4300	6503	SO:0001819	synonymous_variant	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262295C>T	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1113G>A	20.37:g.34262295C>T						NFS1_ENST00000374085.1_Silent_p.K311K|NFS1_ENST00000397425.1_Silent_p.K311K|NFS1_ENST00000540053.1_Silent_p.K169K|NFS1_ENST00000541387.1_Silent_p.K320K	p.K371K	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		10	1183	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		371					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	ENST00000374092.4	37	c.1113G>A	CCDS13262.1																																																																																				0.517	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		64	127	0	0	0	0.870114	0	64	127				
DDA1	79016	broad.mit.edu	37	19	17430418	17430418	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:17430418C>T	ENST00000359866.4	+	5	386	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	88										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGCACCTCCCCGCAAGGTGGC	0.627																																						ENST00000359866.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(262-264)Cgc>Tgc		DET1 and DDB1 associated 1							39.0	35.0	36.0					19																	17430418		2178	4273	6451	SO:0001583	missense	79016							g.chr19:17430418C>T	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.262C>T	19.37:g.17430418C>T	ENSP00000352928:p.Arg88Cys						p.R88C	NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN			5	386	+			88						Missense_Mutation	SNP	ENST00000359866.4	37	c.262C>T	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799000	0.50208	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.33	4.33	0.51752	.	0.211693	0.37955	N	0.001868	T	0.51584	0.1683	L	0.34521	1.04	0.80722	D	1	B	0.16166	0.016	B	0.04013	0.001	T	0.52653	-0.8547	9	0.54805	T	0.06	-3.9315	14.3557	0.66735	0.0:1.0:0.0:0.0	.	88	Q9BW61	DDA1_HUMAN	C	88	.	ENSP00000352928:R88C	R	+	1	0	DDA1	17291418	0.991000	0.36638	0.995000	0.50966	0.946000	0.59487	3.029000	0.49712	1.984000	0.57885	0.457000	0.33378	CGC		0.627	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		4	5	0	0	0	0.184627	0	4	5				
SSPO	23145	broad.mit.edu	37	7	149482799	149482799	+	RNA	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:149482799T>C	ENST00000378016.2	+	0	3215							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCGTGCGTCTGGAGGGCACT	0.617																																						ENST00000378016.2																			0													SCO-spondin							22.0	25.0	24.0					7																	149482799		2151	4244	6395			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482799T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482799T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3215	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	7	0	0	0	0.150653	0	3	7				
PCDHA11	56138	broad.mit.edu	37	5	140250117	140250117	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140250117T>C	ENST00000398640.2	+	1	1429	c.1429T>C	c.(1429-1431)Tcg>Ccg	p.S477P	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	477	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCACAGTGTCGGCGCGGGA	0.662																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1429-1431)Tcg>Ccg									99.0	104.0	102.0					5																	140250117		2203	4300	6503	SO:0001583	missense	56138							g.chr5:140250117T>C	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1429T>C	5.37:g.140250117T>C	ENSP00000381636:p.Ser477Pro					PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	p.S477P	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1429	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1429T>C	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820466	0.32145	.	.	ENSG00000249158	ENST00000398640	T	0.53423	0.62	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77745	0.4176	H	0.95574	3.69	0.23254	N	0.998033	D;D	0.67145	0.995;0.996	D;D	0.69142	0.921;0.962	T	0.75042	-0.3457	9	0.87932	D	0	.	15.4101	0.74911	0.0:0.0:0.0:1.0	.	477;477	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	P	477	ENSP00000381636:S477P	ENSP00000381636:S477P	S	+	1	0	PCDHA11	140230301	0.003000	0.15002	0.746000	0.31095	0.005000	0.04900	0.609000	0.24238	2.116000	0.64780	0.454000	0.30748	TCG		0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		38	91	0	0	0	0.870114	0	38	91				
TACC2	10579	broad.mit.edu	37	10	123844471	123844471	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:123844471C>T	ENST00000369005.1	+	4	2796	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S819F|TACC2_ENST00000334433.3_Missense_Mutation_p.S819F|TACC2_ENST00000453444.2_Missense_Mutation_p.S819F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S819F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	819					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCTGCATCCGAGTGGCCC	0.582																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2455-2457)tCc>tTc		transforming, acidic coiled-coil containing protein 2							96.0	96.0	96.0					10																	123844471		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844471C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2456C>T	10.37:g.123844471C>T	ENSP00000358001:p.Ser819Phe					TACC2_ENST00000334433.3_Missense_Mutation_p.S819F|TACC2_ENST00000515273.1_Missense_Mutation_p.S819F|TACC2_ENST00000453444.2_Missense_Mutation_p.S819F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S819F|TACC2_ENST00000358010.1_Intron	p.S819F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2796	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	819					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2456C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723329	0.48728	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.82;3.76;3.76;3.82;3.76	5.21	3.32	0.38043	.	0.286130	0.19180	N	0.120710	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	D;D;P	0.54964	0.969;0.969;0.917	P;P;P	0.51806	0.68;0.548;0.548	T	0.19095	-1.0316	10	0.72032	D	0.01	-2.6474	9.3828	0.38325	0.0:0.8462:0.0:0.1538	.	819;819;819	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	819;819;819;819;819;809	ENSP00000358001:S819F;ENSP00000424467:S819F;ENSP00000427618:S819F;ENSP00000334280:S819F;ENSP00000395048:S819F	ENSP00000334280:S819F	S	+	2	0	TACC2	123834461	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	0.529000	0.23019	2.424000	0.82194	0.561000	0.74099	TCC		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			31	81	0	0	0	0.769981	0	31	81				
USP19	10869	broad.mit.edu	37	3	49153190	49153190	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:49153190A>G	ENST00000398888.2	-	10	1668	c.1350T>C	c.(1348-1350)caT>caC	p.H450H	USP19_ENST00000417901.1_Silent_p.H553H|USP19_ENST00000398892.3_Silent_p.H490H|USP19_ENST00000398898.2_Silent_p.H490H|USP19_ENST00000434032.2_Silent_p.H551H|USP19_ENST00000453664.1_Silent_p.H541H|USP19_ENST00000398896.1_Silent_p.H258H|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	450					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGGGGTTACATGCTCCATGG	0.582																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1621-1623)caT>caC		ubiquitin specific peptidase 19							83.0	88.0	86.0					3																	49153190		2101	4221	6322	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153190A>G	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1350T>C	3.37:g.49153190A>G						USP19_ENST00000434032.2_Silent_p.H551H|USP19_ENST00000417901.1_Silent_p.H553H|USP19_ENST00000398888.2_Silent_p.H450H|USP19_ENST00000398892.3_Silent_p.H490H|USP19_ENST00000398896.1_Silent_p.H258H|USP19_ENST00000398898.2_Silent_p.H490H	p.H541H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1941	-			450					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.1623T>C	CCDS43090.1																																																																																				0.582	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		36	33	0	0	0	0.812448	0	36	33				
PEX11B	8799	broad.mit.edu	37	1	145522547	145522547	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:145522547C>T	ENST00000369306.3	+	4	557	c.408C>T	c.(406-408)agC>agT	p.S136S	ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|PEX11B_ENST00000537888.1_Silent_p.S122S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	136					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAATTTGAGCCGTGATGCTT	0.448																																						ENST00000369306.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(406-408)agC>agT		peroxisomal biogenesis factor 11 beta							185.0	173.0	177.0					1																	145522547		2203	4300	6503	SO:0001819	synonymous_variant	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522547C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.408C>T	1.37:g.145522547C>T						PEX11B_ENST00000537888.1_Silent_p.S122S	p.S136S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN			4	557	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		136					B3KN85|B4DXH9|Q96ET2	Silent	SNP	ENST00000369306.3	37	c.408C>T	CCDS917.1																																																																																				0.448	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		98	76	0	0	0	0.870114	0	98	76				
PAN3	255967	broad.mit.edu	37	13	28794507	28794507	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:28794507T>C	ENST00000380958.3	+	6	1144	c.992T>C	c.(991-993)tTa>tCa	p.L331S	PAN3_ENST00000399613.1_Missense_Mutation_p.L131S	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTGCTGGATTAGCGCCAGGT	0.433																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(391-393)tTa>tCa		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							167.0	168.0	167.0					13																	28794507		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794507T>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.992T>C	13.37:g.28794507T>C	ENSP00000370345:p.Leu331Ser					PAN3_ENST00000380958.3_Missense_Mutation_p.L331S	p.L131S			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	455	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	331			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.392T>C	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	T	15.62	2.887861	0.52014	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.46063	0.88;0.91	5.6	5.6	0.85130	.	0.069583	0.64402	D	0.000020	T	0.27900	0.0687	N	0.19112	0.55	0.80722	D	1	B;B;B	0.29988	0.053;0.264;0.123	B;B;B	0.21151	0.032;0.033;0.015	T	0.07252	-1.0782	10	0.22109	T	0.4	-8.0905	15.7865	0.78306	0.0:0.0:0.0:1.0	.	331;331;277	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	S	331;131	ENSP00000370345:L331S;ENSP00000382522:L131S	ENSP00000370345:L331S	L	+	2	0	PAN3	27692507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.797000	0.69087	2.125000	0.65367	0.454000	0.30748	TTA		0.433	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		139	258	0	0	0	0.870114	0	139	258				
TECTA	7007	broad.mit.edu	37	11	120976644	120976644	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:120976644T>C	ENST00000392793.1	+	3	440	c.169T>C	c.(169-171)Ttc>Ctc	p.F57L	TECTA_ENST00000264037.2_Missense_Mutation_p.F57L			O75443	TECTA_HUMAN	tectorin alpha	57					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCAGTTTTCTTCTTTGGCGT	0.448																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(169-171)Ttc>Ctc		tectorin alpha							264.0	255.0	258.0					11																	120976644		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120976644T>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.169T>C	11.37:g.120976644T>C	ENSP00000376543:p.Phe57Leu					TECTA_ENST00000264037.2_Missense_Mutation_p.F57L	p.F57L			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	3	440	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	57						Missense_Mutation	SNP	ENST00000392793.1	37	c.169T>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002348	0.93227	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.84589	-1.87;-1.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.72624	2.21	0.46096	D	0.998867	P	0.46656	0.882	P	0.48571	0.582	D	0.89516	0.3775	10	0.72032	D	0.01	.	16.1193	0.81336	0.0:0.0:0.0:1.0	.	57	O75443	TECTA_HUMAN	L	57	ENSP00000376543:F57L;ENSP00000264037:F57L	ENSP00000264037:F57L	F	+	1	0	TECTA	120481854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.759000	0.85235	2.204000	0.70986	0.528000	0.53228	TTC		0.448	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		6	317	0	0	0	0.248553	0	6	317				
TRAPPC1	58485	broad.mit.edu	37	17	7834023	7834023	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7834023G>A	ENST00000303731.4	-	4	454	c.339C>T	c.(337-339)ccC>ccT	p.P113P	CNTROB_ENST00000563694.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.P113P|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000565740.1_5'Flank|CNTROB_ENST00000380262.3_5'Flank|KCNAB3_ENST00000303790.2_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	113					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				GCGGGCACAGGGGATTCTTCA	0.537																																						ENST00000303731.4																			0				breast(1)|lung(2)	3						c.(337-339)ccC>ccT		trafficking protein particle complex 1							91.0	68.0	76.0					17																	7834023		2203	4300	6503	SO:0001819	synonymous_variant	58485				ER to Golgi vesicle-mediated transport	endoplasmic reticulum		g.chr17:7834023G>A	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.339C>T	17.37:g.7834023G>A						TRAPPC1_ENST00000540486.1_Silent_p.P113P	p.P113P	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN			4	454	-		Prostate(122;0.173)	113					D3DTR0	Silent	SNP	ENST00000303731.4	37	c.339C>T	CCDS11125.1																																																																																				0.537	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	NM_021210		37	76	0	0	0	0.796494	0	37	76				
PPP1R9A	55607	broad.mit.edu	37	7	94539704	94539704	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:94539704T>C	ENST00000433881.1	+	2	811	c.279T>C	c.(277-279)caT>caC	p.H93H	PPP1R9A_ENST00000456331.2_Silent_p.H93H|PPP1R9A_ENST00000433360.1_Silent_p.H93H|PPP1R9A_ENST00000424654.1_Silent_p.H93H|PPP1R9A_ENST00000289495.5_Silent_p.H93H|PPP1R9A_ENST00000340694.4_Silent_p.H93H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	93	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGGTGGACATTCATCTCCTC	0.408										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(277-279)caT>caC		protein phosphatase 1, regulatory subunit 9A							51.0	52.0	51.0					7																	94539704		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539704T>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.279T>C	7.37:g.94539704T>C		HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Silent_p.H93H|PPP1R9A_ENST00000424654.1_Silent_p.H93H|PPP1R9A_ENST00000433881.1_Silent_p.H93H|PPP1R9A_ENST00000456331.2_Silent_p.H93H|PPP1R9A_ENST00000433360.1_Silent_p.H93H	p.H93H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	495	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		93			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.279T>C	CCDS34683.1																																																																																				0.408	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		43	66	0	0	0	0.840704	0	43	66				
CLK4	57396	broad.mit.edu	37	5	178044364	178044364	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:178044364T>C	ENST00000316308.4	-	4	624	c.456A>G	c.(454-456)ggA>ggG	p.G152G	CLK4_ENST00000522749.1_Intron|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	152					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		TTAGAACGTCTCCACTTTGAC	0.418																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(454-456)ggA>ggG		CDC-like kinase 4							119.0	105.0	110.0					5																	178044364		2203	4300	6503	SO:0001819	synonymous_variant	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178044364T>C	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.456A>G	5.37:g.178044364T>C						CLK4_ENST00000522749.1_Intron	p.G152G	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	4	624	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	152						Silent	SNP	ENST00000316308.4	37	c.456A>G	CCDS4437.1																																																																																				0.418	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			34	88	0	0	0	0.796494	0	34	88				
TTC39C	125488	broad.mit.edu	37	18	21710336	21710336	+	Silent	SNP	G	G	A	rs149403354		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:21710336G>A	ENST00000317571.3	+	12	1814	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	TTC39C_ENST00000540918.2_Silent_p.P219P|TTC39C_ENST00000304621.6_Silent_p.P465P	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	526										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ATGTTCAGCCGTATGCCTGTT	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		12950	0.001		0.0	False		,,,				2504	0.0					ENST00000540918.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(655-657)ccG>ccA		tetratricopeptide repeat domain 39C		G	,	0,4404		0,0,2202	158.0	151.0	154.0		1578,1395	-12.2	0.4	18	dbSNP_134	154	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous,coding-synonymous	TTC39C	NM_001135993.1,NM_153211.3	,	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	,	526/584,465/523	21710336	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	125488						binding	g.chr18:21710336G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1578G>A	18.37:g.21710336G>A						TTC39C_ENST00000304621.6_Silent_p.P465P|TTC39C_ENST00000317571.3_Silent_p.P526P	p.P219P			Q8N584	TT39C_HUMAN			7	907	+			526					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Silent	SNP	ENST00000317571.3	37	c.657G>A	CCDS45839.1																																																																																				0.308	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		96	180	0	0	0	0.870114	0	96	180				
USP43	124739	broad.mit.edu	37	17	9583621	9583621	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:9583621C>T	ENST00000285199.7	+	6	1139	c.1043C>T	c.(1042-1044)gCa>gTa	p.A348V	USP43_ENST00000570475.1_Missense_Mutation_p.A348V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	348	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AATACCATCGCAGAGGGAGAT	0.453																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(109-111)gCa>gTa		ubiquitin specific peptidase 43							120.0	112.0	114.0					17																	9583621		1873	4104	5977	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9583621C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1043C>T	17.37:g.9583621C>T	ENSP00000285199:p.Ala348Val					USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.A348V|USP43_ENST00000285199.6_Missense_Mutation_p.A348V	p.A37V			Q70EL4	UBP43_HUMAN			6	1184	+			348					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.110C>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260798	0.80246	.	.	ENSG00000154914	ENST00000285199	T	0.09911	2.93	5.64	4.62	0.57501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.346810	0.24732	N	0.036058	T	0.19167	0.0460	L	0.49350	1.555	0.30846	N	0.735165	P;P;P	0.52170	0.951;0.94;0.741	P;P;P	0.56398	0.797;0.695;0.593	T	0.01464	-1.1348	10	0.16896	T	0.51	-1.3676	13.0673	0.59041	0.1614:0.8386:0.0:0.0	.	348;37;348	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	V	348	ENSP00000285199:A348V	ENSP00000285199:A348V	A	+	2	0	USP43	9524346	0.134000	0.22483	0.692000	0.30179	0.940000	0.58332	2.625000	0.46452	2.666000	0.90696	0.591000	0.81541	GCA		0.453	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		53	136	0	0	0	0.870114	0	53	136				
CRHR2	1395	broad.mit.edu	37	7	30702345	30702345	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:30702345C>T	ENST00000471646.1	-	6	1079	c.662G>A	c.(661-663)cGc>cAc	p.R221H	CRHR2_ENST00000348438.4_Missense_Mutation_p.R248H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R207H|CRHR2_ENST00000506074.2_Missense_Mutation_p.R221H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	221					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGCGCAGGCGCTCAGTGGA	0.567																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(661-663)cGc>cAc		corticotropin releasing hormone receptor 2							109.0	92.0	98.0					7																	30702345		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30702345C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.662G>A	7.37:g.30702345C>T	ENSP00000418722:p.Arg221His					CRHR2_ENST00000348438.4_Missense_Mutation_p.R248H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R207H|CRHR2_ENST00000506074.2_Missense_Mutation_p.R221H	p.R221H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			6	1079	-			221					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.662G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477846	0.44044	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.4	0.972	0.19704	GPCR, family 2-like (1);	0.163679	0.52532	N	0.000074	T	0.36138	0.0956	L	0.45698	1.435	0.31310	N	0.687206	B;B;B;B;B	0.22003	0.037;0.063;0.013;0.005;0.037	B;B;B;B;B	0.21708	0.036;0.036;0.013;0.008;0.036	T	0.34825	-0.9813	10	0.56958	D	0.05	.	6.6649	0.23035	0.0:0.4484:0.0:0.5516	.	220;221;248;207;221	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	H	221;248;207;221	ENSP00000418722:R221H;ENSP00000340943:R248H;ENSP00000344304:R207H;ENSP00000426498:R221H	ENSP00000344304:R207H	R	-	2	0	CRHR2	30668870	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.807000	0.38902	0.352000	0.24053	0.655000	0.94253	CGC		0.567	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			20	48	0	0	0	0.592651	0	20	48				
TAGLN3	29114	broad.mit.edu	37	3	111719762	111719762	+	Silent	SNP	C	C	A	rs369661291		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:111719762C>A	ENST00000393917.2	+	3	876	c.324C>A	c.(322-324)acC>acA	p.T108T	TAGLN3_ENST00000273368.4_Silent_p.T108T|TAGLN3_ENST00000486460.1_Silent_p.T24T|TAGLN3_ENST00000455401.2_Silent_p.T108T|TAGLN3_ENST00000478951.1_Silent_p.T108T	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TCAGAACCACCGACATCTTTC	0.478																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(322-324)acC>acA		transgelin 3							138.0	142.0	140.0					3																	111719762		2203	4300	6503	SO:0001819	synonymous_variant	29114				central nervous system development|muscle organ development			g.chr3:111719762C>A	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.324C>A	3.37:g.111719762C>A						TAGLN3_ENST00000486460.1_Silent_p.T24T|TAGLN3_ENST00000478951.1_Silent_p.T108T|TAGLN3_ENST00000455401.2_Silent_p.T108T|TAGLN3_ENST00000273368.4_Silent_p.T108T	p.T108T	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			3	876	+			108			CH.		D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	c.324C>A	CCDS33816.1																																																																																				0.478	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		109	208	1	0	3.26371e-31	0.870114	3.62156e-31	109	208				
PASD1	139135	broad.mit.edu	37	X	150780186	150780186	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:150780186T>C	ENST00000370357.4	+	4	413	c.168T>C	c.(166-168)tgT>tgC	p.C56C		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	56	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCATTTGTGTGGCTGAAA	0.333																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(166-168)tgT>tgC		PAS domain containing 1							279.0	231.0	247.0					X																	150780186		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150780186T>C	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.168T>C	X.37:g.150780186T>C							p.C56C	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			4	413	+	Acute lymphoblastic leukemia(192;6.56e-05)		56			PAS.		Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.168T>C	CCDS35431.1																																																																																				0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		33	195	0	0	0	0.779181	0	33	195				
LENG8	114823	broad.mit.edu	37	19	54967841	54967841	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:54967841G>A	ENST00000326764.5	+	11	1951	c.1472G>A	c.(1471-1473)aGt>aAt	p.S491N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	454										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACCAAGCGCAGTCGAAAGAAG	0.672																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1471-1473)aGt>aAt		leukocyte receptor cluster (LRC) member 8							16.0	21.0	20.0					19																	54967841		2199	4292	6491	SO:0001583	missense	114823						protein binding	g.chr19:54967841G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1472G>A	19.37:g.54967841G>A	ENSP00000318374:p.Ser491Asn					LENG8_ENST00000376514.2_Intron	p.S491N	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	11	1951	+	Ovarian(34;0.19)		454					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1472G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	8.033	0.762191	0.15914	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.30448	1.56;1.53;1.53	4.17	1.89	0.25635	.	0.236043	0.44097	N	0.000493	T	0.11665	0.0284	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.10405	-1.0631	10	0.14252	T	0.57	-21.5304	5.0507	0.14507	0.3937:0.0:0.6063:0.0	.	491;454	Q96PV6-2;F8W9Q9	.;.	N	491;454;454;491	ENSP00000318374:S491N;ENSP00000365709:S454N;ENSP00000388053:S491N	ENSP00000301196:S454N	S	+	2	0	LENG8	59659653	1.000000	0.71417	0.998000	0.56505	0.369000	0.29798	2.171000	0.42453	0.933000	0.37291	0.462000	0.41574	AGT		0.672	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		6	11	0	0	0	0.217242	0	6	11				
NOX1	27035	broad.mit.edu	37	X	100103736	100103736	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:100103736T>C	ENST00000372966.3	-	12	1656	c.1451A>G	c.(1450-1452)cAt>cGt	p.H484R	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.H447R|NOX1_ENST00000217885.5_Missense_Mutation_p.H435R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	484	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TAATGCTGCATGACCAACCTG	0.468																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1450-1452)cAt>cGt		NADPH oxidase 1							129.0	118.0	122.0					X																	100103736		2203	4300	6503	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100103736T>C	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1451A>G	X.37:g.100103736T>C	ENSP00000362057:p.His484Arg					NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.H447R|NOX1_ENST00000217885.5_Missense_Mutation_p.H435R	p.H484R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			12	1656	-			484			Interaction with NOXO1.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1451A>G	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	t	13.78	2.340722	0.41498	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;T;D	0.94280	-3.39;0.01;-3.39	3.78	2.59	0.31030	Ferric reductase, NAD binding (1);	0.256198	0.36703	N	0.002449	D	0.91573	0.7338	M	0.69358	2.11	0.42564	D	0.993158	B;P;P	0.40731	0.324;0.507;0.728	B;B;P	0.45794	0.224;0.361;0.493	D	0.86184	0.1608	10	0.18710	T	0.47	-0.4641	7.8278	0.29326	0.0:0.1033:0.0:0.8967	.	447;435;484	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	R	484;435;447	ENSP00000362057:H484R;ENSP00000217885:H435R;ENSP00000362051:H447R	ENSP00000217885:H435R	H	-	2	0	NOX1	99990392	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	6.033000	0.70925	0.475000	0.27415	0.424000	0.28305	CAT		0.468	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		4	137	0	0	0	0.184627	0	4	137				
OR51Q1	390061	broad.mit.edu	37	11	5444095	5444095	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:5444095T>C	ENST00000300778.4	+	1	755	c.665T>C	c.(664-666)cTt>cCt	p.L222P	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTATACACTTATTCTGAAA	0.488																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(664-666)cTt>cCt		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							143.0	124.0	131.0					11																	5444095		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444095T>C	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.665T>C	11.37:g.5444095T>C	ENSP00000300778:p.Leu222Pro					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L222P	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	755	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	222					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.665T>C	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600650	0.28534	.	.	ENSG00000167360	ENST00000300778	T	0.00183	8.6	5.0	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.724401	0.11840	N	0.524420	T	0.00637	0.0021	M	0.93062	3.375	0.20196	N	0.99992	D	0.56746	0.977	P	0.61003	0.882	T	0.33650	-0.9860	10	0.72032	D	0.01	.	10.9752	0.47461	0.0:0.0:0.299:0.701	.	222	Q8NH59	O51Q1_HUMAN	P	222	ENSP00000300778:L222P	ENSP00000300778:L222P	L	+	2	0	OR51Q1	5400671	0.003000	0.15002	0.000000	0.03702	0.456000	0.32438	1.395000	0.34520	0.370000	0.24538	0.311000	0.20440	CTT		0.488	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		82	205	0	0	0	0.870114	0	82	205				
PTPRT	11122	broad.mit.edu	37	20	41306678	41306678	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:41306678A>T	ENST00000373187.1	-	7	980	c.981T>A	c.(979-981)taT>taA	p.Y327*	PTPRT_ENST00000373198.4_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y327*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	327	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGTGCGATATTCCACTT	0.567																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(979-981)taT>taA		protein tyrosine phosphatase, receptor type, T							137.0	142.0	140.0					20																	41306678		2053	4208	6261	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306678A>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.981T>A	20.37:g.41306678A>T	ENSP00000362283:p.Tyr327*					PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y327*	p.Y327*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			7	1216	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	327			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.981T>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	A	37	6.483769	0.97603	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.32	-6.81	0.01704	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1174	0.86692	0.3747:0.0:0.6253:0.0	.	.	.	.	X	327	.	ENSP00000348408:Y327X	Y	-	3	2	PTPRT	40740092	0.967000	0.33354	0.712000	0.30502	0.751000	0.42716	0.136000	0.15974	-1.110000	0.02992	-0.290000	0.09829	TAT		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			59	107	0	0	0	0.870114	0	59	107				
EDRF1	26098	broad.mit.edu	37	10	127418877	127418877	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:127418877A>T	ENST00000356792.4	+	9	1269	c.1037A>T	c.(1036-1038)aAt>aTt	p.N346I	C10orf137_ENST00000337623.3_Missense_Mutation_p.N312I	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAACCAATTAATGTGCTAACT	0.308																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(934-936)aAt>aTt		chromosome 10 open reading frame 137							223.0	210.0	214.0					10																	127418877		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127418877A>T																												ENST00000356792.4:c.1037A>T	10.37:g.127418877A>T	ENSP00000349244:p.Asn346Ile					C10orf137_ENST00000356792.4_Missense_Mutation_p.N346I	p.N312I	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			8	1040	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	346					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.935A>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669632	0.88348	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.12569	2.67;2.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	T	0.39078	-0.9631	10	0.87932	D	0	.	15.9989	0.80275	1.0:0.0:0.0:0.0	.	346;312;346	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	I	346;346;312	ENSP00000349244:N346I;ENSP00000336727:N312I	ENSP00000336727:N312I	N	+	2	0	C10orf137	127408867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.179000	0.69175	0.482000	0.46254	AAT		0.308	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			80	159	0	0	0	0.870114	0	80	159				
RIPK2	8767	broad.mit.edu	37	8	90784903	90784903	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:90784903A>G	ENST00000220751.4	+	6	1014	c.700A>G	c.(700-702)Aat>Gat	p.N234D	RIPK2_ENST00000540020.1_Missense_Mutation_p.N97D	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AGATGTCACCAATCCTTTGCA	0.313																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(700-702)Aat>Gat		receptor-interacting serine-threonine kinase 2							107.0	100.0	103.0					8																	90784903		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90784903A>G	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.700A>G	8.37:g.90784903A>G	ENSP00000220751:p.Asn234Asp					RIPK2_ENST00000540020.1_Missense_Mutation_p.N97D	p.N234D	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		6	1014	+			234			Protein kinase.		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.700A>G	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740819	0.89573	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.61980	1.38;0.06	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000345	T	0.72053	0.3413	L	0.37507	1.11	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.74746	-0.3561	10	0.72032	D	0.01	-25.1611	16.2668	0.82588	1.0:0.0:0.0:0.0	.	234	O43353	RIPK2_HUMAN	D	234;97	ENSP00000220751:N234D;ENSP00000441623:N97D	ENSP00000220751:N234D	N	+	1	0	RIPK2	90854040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.022000	0.76431	2.240000	0.73641	0.533000	0.62120	AAT		0.313	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			53	98	0	0	0	0.870114	0	53	98				
GYS1	2997	broad.mit.edu	37	19	49490600	49490600	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49490600C>T	ENST00000323798.3	-	3	539	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GYS1_ENST00000541188.1_Missense_Mutation_p.V35M|GYS1_ENST00000540532.1_Missense_Mutation_p.V35M|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	115					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCCAGGAGCACCACCAGAGGG	0.642																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(343-345)Gtg>Atg		glycogen synthase 1 (muscle)							44.0	34.0	38.0					19																	49490600		2202	4299	6501	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49490600C>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.343G>A	19.37:g.49490600C>T	ENSP00000317904:p.Val115Met					GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.V35M|GYS1_ENST00000541188.1_Missense_Mutation_p.V35M|GYS1_ENST00000544287.1_Intron	p.V115M	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	3	539	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	115					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.343G>A	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518323	0.64634	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.69040	-0.37;-0.37;-0.37	3.82	2.79	0.32731	.	0.213800	0.39475	N	0.001344	T	0.71929	0.3398	L	0.60957	1.885	0.42936	D	0.99433	D;P	0.53745	0.962;0.934	D;P	0.65233	0.933;0.769	T	0.73222	-0.4051	10	0.87932	D	0	-20.0673	5.0348	0.14428	0.0:0.759:0.0:0.241	.	35;115	B7Z806;P13807	.;GYS1_HUMAN	M	115;35;35;114	ENSP00000317904:V115M;ENSP00000437922:V35M;ENSP00000445197:V35M	ENSP00000317904:V115M	V	-	1	0	GYS1	54182412	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.090000	0.30902	2.088000	0.63022	0.557000	0.71058	GTG		0.642	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		7	21	0	0	0	0.307466	0	7	21				
VARS	7407	broad.mit.edu	37	6	31760034	31760034	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:31760034G>A	ENST00000375663.3	-	6	1271	c.831C>T	c.(829-831)gtC>gtT	p.V277V	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	277					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CATAGGTAATGACCCCAGGAT	0.552																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(829-831)gtC>gtT		valyl-tRNA synthetase	L-Valine(DB00161)						88.0	84.0	85.0					6																	31760034		1511	2709	4220	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760034G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.831C>T	6.37:g.31760034G>A						VARS_ENST00000444930.2_5'UTR	p.V277V	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			6	1271	-			277					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.831C>T	CCDS34412.1																																																																																				0.552	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		52	88	0	0	0	0.870114	0	52	88				
ARSG	22901	broad.mit.edu	37	17	66397567	66397567	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:66397567C>T	ENST00000448504.2	+	11	2075	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	ARSG_ENST00000452479.2_Missense_Mutation_p.R263C|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	427					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCGCCTGGAGCGTTACAAGGC	0.592																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(1279-1281)Cgt>Tgt		arylsulfatase G							80.0	74.0	76.0					17																	66397567		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66397567C>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1279C>T	17.37:g.66397567C>T	ENSP00000407193:p.Arg427Cys					ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.R263C	p.R427C	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	2075	+			427					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1279C>T	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578159	0.45902	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	D	0.98684	-5.07	4.98	0.581	0.17407	Alkaline-phosphatase-like, core domain (1);	1.930300	0.02171	N	0.059708	D	0.98538	0.9512	M	0.82433	2.59	0.18873	N	0.999984	D	0.76494	0.999	P	0.50270	0.636	D	0.91847	0.5488	10	0.56958	D	0.05	.	8.1355	0.31052	0.402:0.5254:0.0:0.0726	.	427	Q96EG1	ARSG_HUMAN	C	427;326	ENSP00000407193:R326C	ENSP00000407193:R326C	R	+	1	0	ARSG	63909162	0.046000	0.20272	0.065000	0.19835	0.502000	0.33828	0.936000	0.28938	0.071000	0.16664	-0.181000	0.13052	CGT		0.592	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		29	71	0	0	0	0.717897	0	29	71				
ZBTB12	221527	broad.mit.edu	37	6	31868726	31868726	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:31868726G>A	ENST00000375527.2	-	2	532	c.357C>T	c.(355-357)tgC>tgT	p.C119C	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCATTCCGGCATTTCTCCA	0.567																																						ENST00000375527.2																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(355-357)tgC>tgT		zinc finger and BTB domain containing 12							78.0	74.0	75.0					6																	31868726		2203	4300	6503	SO:0001819	synonymous_variant	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868726G>A	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.357C>T	6.37:g.31868726G>A						C2_ENST00000469372.1_Intron	p.C119C	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN			2	532	-			119					B0UY00|Q5JQ98	Silent	SNP	ENST00000375527.2	37	c.357C>T	CCDS4727.1																																																																																				0.567	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		15	83	0	0	0	0.500413	0	15	83				
XIST	7503	broad.mit.edu	37	X	73069443	73069443	+	lincRNA	SNP	G	G	A	rs185167540		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:73069443G>A	ENST00000429829.1	-	0	3145					NR_001564.2				X inactive specific transcript (non-protein coding)																		TAACTTCAACGTACCGAGTAA	0.403													g|||	2	0.000529801	0.0	0.0	3775	,	,		11850	0.0		0.001	False		,,,				2504	0.001					ENST00000429829.1																			0																	0,1417		0,0,542,333	67.0	64.0	65.0			-4.6	0.0	X		65	1,3105		0,1,1115,874	no	intergenic				0,1,1657,1207	AA,AG,GG,G		0.0322,0.0,0.0221			73069443	1,4522	875	1990	2865			7503							g.chrX:73069443G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069443G>A								NR_001564.2						0	3145	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.403	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		37	28	0	0	0	0.788014	0	37	28				
UBQLN3	50613	broad.mit.edu	37	11	5529517	5529517	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:5529517A>G	ENST00000311659.4	-	2	1419	c.1272T>C	c.(1270-1272)ggT>ggC	p.G424G	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	424										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGGTCTCCACCTTGTCCAG	0.547																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1270-1272)ggT>ggC		ubiquilin 3							113.0	114.0	113.0					11																	5529517		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5529517A>G	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1272T>C	11.37:g.5529517A>G						HBG2_ENST00000380259.2_Intron	p.G424G	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1419	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	424					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.1272T>C	CCDS7758.1																																																																																				0.547	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		71	128	0	0	0	0.870114	0	71	128				
ITGA5	3678	broad.mit.edu	37	12	54797504	54797504	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:54797504G>A	ENST00000293379.4	-	17	1942	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	561					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GCCAGGAACAGTGCCCGCCGT	0.562																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1681-1683)Ctg>Ttg		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							77.0	69.0	72.0					12																	54797504		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797504G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1681C>T	12.37:g.54797504G>A						RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.L561L	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			17	1942	-			561					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1681C>T	CCDS8880.1																																																																																				0.562	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			25	44	0	0	0	0.750413	0	25	44				
AHDC1	27245	broad.mit.edu	37	1	27875714	27875714	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:27875714G>A	ENST00000247087.5	-	5	3509	c.2913C>T	c.(2911-2913)taC>taT	p.Y971Y	AHDC1_ENST00000374011.2_Silent_p.Y971Y			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	971							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CATAGCCGCCGTACTGGGGCA	0.657																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2911-2913)taC>taT		AT hook, DNA binding motif, containing 1							46.0	57.0	53.0					1																	27875714		2194	4290	6484	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27875714G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2913C>T	1.37:g.27875714G>A						AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.Y971Y	p.Y971Y	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3881	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	971					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.2913C>T	CCDS30652.1																																																																																				0.657	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			37	26	0	0	0	0.870114	0	37	26				
RHOU	58480	broad.mit.edu	37	1	228879349	228879349	+	Missense_Mutation	SNP	G	G	T	rs570518944		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:228879349G>T	ENST00000366691.3	+	3	1305	c.639G>T	c.(637-639)gaG>gaT	p.E213D		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACCTCAAAGAGGTCTTTGATG	0.483																																						ENST00000366691.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13						c.(637-639)gaG>gaT		ras homolog family member U							89.0	101.0	97.0					1																	228879349		2203	4300	6503	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228879349G>T		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.639G>T	1.37:g.228879349G>T	ENSP00000355652:p.Glu213Asp						p.E213D	NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN			3	1305	+	Breast(184;0.162)	Prostate(94;0.183)	213						Missense_Mutation	SNP	ENST00000366691.3	37	c.639G>T	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333949	0.41297	.	.	ENSG00000116574	ENST00000366691	T	0.72835	-0.69	4.95	0.906	0.19314	.	0.045911	0.85682	N	0.000000	T	0.51702	0.1690	L	0.31804	0.96	0.50171	D	0.99985	B	0.14805	0.011	B	0.21546	0.035	T	0.24297	-1.0164	10	0.35671	T	0.21	.	4.156	0.10261	0.3668:0.1666:0.4666:0.0	.	213	Q7L0Q8	RHOU_HUMAN	D	213	ENSP00000355652:E213D	ENSP00000355652:E213D	E	+	3	2	RHOU	226945972	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.699000	0.25586	0.012000	0.14892	0.655000	0.94253	GAG		0.483	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		52	137	1	0	2.69774e-35	0.870114	3.00544e-35	52	137				
IYD	389434	broad.mit.edu	37	6	150690236	150690236	+	Silent	SNP	C	C	A	rs138283020	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:150690236C>A	ENST00000344419.3	+	1	209	c.69C>A	c.(67-69)gcC>gcA	p.A23A	IYD_ENST00000392256.2_Silent_p.A23A|IYD_ENST00000392255.3_Silent_p.A23A|IYD_ENST00000500320.3_Silent_p.A23A|IYD_ENST00000229447.5_Silent_p.A23A|IYD_ENST00000425615.3_5'Flank	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	23					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTAAAAATGCCGACAGAAGCA	0.512																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(67-69)gcC>gcA		iodotyrosine deiodinase							152.0	168.0	162.0					6																	150690236		2203	4300	6503	SO:0001819	synonymous_variant	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150690236C>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.69C>A	6.37:g.150690236C>A						IYD_ENST00000392256.2_Silent_p.A23A|IYD_ENST00000392255.3_Silent_p.A23A|IYD_ENST00000229447.5_Silent_p.A23A|IYD_ENST00000500320.3_Silent_p.A23A	p.A23A	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	1	209	+		Ovarian(120;0.028)	23					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	37	c.69C>A	CCDS5227.1																																																																																				0.512	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		157	274	1	0	1.565e-67	0.870114	1.76932e-67	157	274				
SYNE1	23345	broad.mit.edu	37	6	152542150	152542150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:152542150G>A	ENST00000367255.5	-	119	22289	c.21688C>T	c.(21688-21690)Cag>Tag	p.Q7230*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7230*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q7159*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q7159*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6842*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1754*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7230					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTGTAGCTGCTCAGCAATC	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(21688-21690)Cag>Tag		spectrin repeat containing, nuclear envelope 1							114.0	103.0	107.0					6																	152542150		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152542150G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21688C>T	6.37:g.152542150G>A	ENSP00000356224:p.Gln7230*	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1754*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7230*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6842*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q7159*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q7159*	p.Q7230*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	119	22289	-		Ovarian(120;0.0955)	7230					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.21688C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	47	13.623300	0.99753	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	.	.	.	5.53	5.53	0.82687	.	0.111791	0.40385	N	0.001116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	7230;7159;7230;7159;6842;1754;152	.	ENSP00000265368:Q7230X	Q	-	1	0	SYNE1	152583843	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.815000	0.86186	2.753000	0.94483	0.585000	0.79938	CAG		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		46	95	0	0	0	0.870114	0	46	95				
ECEL1	9427	broad.mit.edu	37	2	233347836	233347836	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:233347836A>G	ENST00000304546.1	-	9	1770	c.1560T>C	c.(1558-1560)gaT>gaC	p.D520D	ECEL1_ENST00000409941.1_Silent_p.D520D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	520					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTCCACAGCATCGGGTTTCA	0.647																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1558-1560)gaT>gaC		endothelin converting enzyme-like 1							57.0	37.0	44.0					2																	233347836		2203	4300	6503	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233347836A>G	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1560T>C	2.37:g.233347836A>G						ECEL1_ENST00000409941.1_Silent_p.D520D	p.D520D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	9	1770	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	520					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.1560T>C	CCDS2493.1																																																																																				0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		5	11	0	0	0	0.217242	0	5	11				
MUC17	140453	broad.mit.edu	37	7	100679747	100679747	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:100679747A>G	ENST00000306151.4	+	3	5114	c.5050A>G	c.(5050-5052)Act>Gct	p.T1684A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1684	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAACCTCAACTTATACTGA	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5050-5052)Act>Gct		mucin 17, cell surface associated							195.0	209.0	204.0					7																	100679747		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679747A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5050A>G	7.37:g.100679747A>G	ENSP00000302716:p.Thr1684Ala						p.T1684A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5114	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1684			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5050A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	2.261	-0.369167	0.05069	.	.	ENSG00000169876	ENST00000306151	T	0.03035	4.07	0.932	-0.623	0.11556	.	.	.	.	.	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	P	0.49635	0.926	B	0.39590	0.304	T	0.22417	-1.0217	9	0.05620	T	0.96	.	3.0041	0.06023	0.6061:0.0:0.0:0.3939	.	1684	Q685J3	MUC17_HUMAN	A	1684	ENSP00000302716:T1684A	ENSP00000302716:T1684A	T	+	1	0	MUC17	100466467	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.674000	0.05233	-0.134000	0.11516	0.113000	0.15668	ACT		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		165	307	0	0	0	0.870114	0	165	307				
MARS	4141	broad.mit.edu	37	12	57894296	57894296	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57894296C>T	ENST00000262027.5	+	10	1418	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.V194V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	428					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCAATGCTGTCGAGCTTAAGG	0.537																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1282-1284)gtC>gtT		methionyl-tRNA synthetase	L-Methionine(DB00134)						104.0	87.0	93.0					12																	57894296		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57894296C>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1284C>T	12.37:g.57894296C>T						MARS_ENST00000315473.5_Silent_p.V194V|MARS_ENST00000447721.2_3'UTR	p.V428V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		10	1418	+			428					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.1284C>T	CCDS8942.1																																																																																				0.537	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		11	48	0	0	0	0.361761	0	11	48				
ERMP1	79956	broad.mit.edu	37	9	5811273	5811273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:5811273C>T	ENST00000339450.5	-	7	1254	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ERMP1_ENST00000381506.3_Missense_Mutation_p.A165T|ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	389						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GAAGCAGCAGCCAGCATATCA	0.368																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1165-1167)Gct>Act		endoplasmic reticulum metallopeptidase 1							149.0	127.0	134.0					9																	5811273		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5811273C>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1165G>A	9.37:g.5811273C>T	ENSP00000340427:p.Ala389Thr					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.A165T	p.A389T	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	7	1254	-		Acute lymphoblastic leukemia(23;0.158)	389					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1165G>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257760	0.59321	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.47177	0.85	5.9	5.01	0.66863	.	0.166670	0.52532	D	0.000064	T	0.37705	0.1013	L	0.52573	1.65	0.48696	D	0.999699	P	0.41041	0.736	B	0.30646	0.118	T	0.22695	-1.0209	10	0.14656	T	0.56	-6.8246	16.7155	0.85397	0.0:0.7443:0.2557:0.0	.	389	Q7Z2K6	ERMP1_HUMAN	T	389;165	ENSP00000340427:A389T	ENSP00000340427:A389T	A	-	1	0	ERMP1	5801273	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	2.764000	0.47613	1.494000	0.48533	0.655000	0.94253	GCT		0.368	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		57	54	0	0	0	0.870114	0	57	54				
LRRIQ1	84125	broad.mit.edu	37	12	85521681	85521681	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:85521681G>T	ENST00000393217.2	+	18	4140	c.4079G>T	c.(4078-4080)aGg>aTg	p.R1360M		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1360	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCTCCACAAGGCTACATACT	0.398																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4078-4080)aGg>aTg		leucine-rich repeats and IQ motif containing 1							143.0	143.0	143.0					12																	85521681		1876	4123	5999	SO:0001583	missense	84125							g.chr12:85521681G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4079G>T	12.37:g.85521681G>T	ENSP00000376910:p.Arg1360Met						p.R1360M	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	18	4140	+			1360			IQ 2.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4079G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969444	0.34754	.	.	ENSG00000133640	ENST00000393217	T	0.55930	0.49	4.94	-6.13	0.02118	.	.	.	.	.	T	0.31327	0.0793	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	P	0.46975	0.533	T	0.40831	-0.9542	9	0.62326	D	0.03	.	7.6262	0.28214	0.4009:0.0:0.5008:0.0983	.	1360	Q96JM4	LRIQ1_HUMAN	M	1360	ENSP00000376910:R1360M	ENSP00000376910:R1360M	R	+	2	0	LRRIQ1	84045812	0.001000	0.12720	0.000000	0.03702	0.342000	0.28953	0.325000	0.19628	-1.094000	0.03054	0.591000	0.81541	AGG		0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		94	201	1	0	5.71645e-57	0.870114	6.43675e-57	94	201				
C19orf35	374872	broad.mit.edu	37	19	2275750	2275750	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:2275750G>A	ENST00000342063.3	-	4	1444	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	451										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAACACAGCCAGTCCTCG	0.721																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(1351-1353)Ctg>Ttg		chromosome 19 open reading frame 35							11.0	11.0	11.0					19																	2275750		2172	4233	6405	SO:0001819	synonymous_variant	374872							g.chr19:2275750G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.1351C>T	19.37:g.2275750G>A							p.L451L	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1444	-			451						Silent	SNP	ENST00000342063.3	37	c.1351C>T	CCDS12087.1																																																																																				0.721	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		4	0	0	0	0	0.184627	0	4	0				
TRIM48	79097	broad.mit.edu	37	11	55032522	55032522	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:55032522T>C	ENST00000417545.2	+	2	277	c.191T>C	c.(190-192)aTt>aCt	p.I64T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	48						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACATCCCAATTCTTACTCAG	0.458																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(190-192)aTt>aCt		tripartite motif containing 48							113.0	110.0	111.0					11																	55032522		2186	4259	6445	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032522T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.191T>C	11.37:g.55032522T>C	ENSP00000402414:p.Ile64Thr						p.I64T	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	277	+			48					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.191T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.255180	0.00021	.	.	ENSG00000150244	ENST00000417545	D	0.83673	-1.75	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.60637	0.2284	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.20184	0.028	T	0.40496	-0.9560	9	0.21540	T	0.41	.	3.5541	0.07858	0.0:0.2498:0.4953:0.2549	.	48	Q8IWZ4	TRI48_HUMAN	T	64	ENSP00000402414:I64T	ENSP00000402414:I64T	I	+	2	0	TRIM48	54789098	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.870000	0.04228	-1.243000	0.02519	-0.948000	0.02665	ATT		0.458	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			73	143	0	0	0	0.870114	0	73	143				
APAF1	317	broad.mit.edu	37	12	99100325	99100325	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:99100325T>C	ENST00000551964.1	+	19	3394	c.2658T>C	c.(2656-2658)caT>caC	p.H886H	APAF1_ENST00000357310.1_Silent_p.H843H|APAF1_ENST00000359972.2_Silent_p.H832H|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.H843H|APAF1_ENST00000549007.1_Silent_p.H843H|APAF1_ENST00000550527.1_Silent_p.H875H|APAF1_ENST00000547045.1_Silent_p.H843H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	886					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTTGGGTTCATGGTGTGATGT	0.373																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2527-2529)caT>caC		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						292.0	235.0	254.0					12																	99100325		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99100325T>C	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2658T>C	12.37:g.99100325T>C						APAF1_ENST00000550527.1_Silent_p.H875H|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Silent_p.H843H|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Silent_p.H843H|APAF1_ENST00000359972.2_Silent_p.H832H|APAF1_ENST00000339433.3_Silent_p.H843H|APAF1_ENST00000551964.1_Silent_p.H886H	p.H843H	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			18	3106	+			886					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.2529T>C	CCDS9069.1																																																																																				0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		92	170	0	0	0	0.870114	0	92	170				
ATP6AP1	537	broad.mit.edu	37	X	153662708	153662708	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:153662708A>G	ENST00000369762.2	+	7	900	c.839A>G	c.(838-840)gAc>gGc	p.D280G	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	280					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGTACAAGGACCAGTGGGAG	0.557																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(838-840)gAc>gGc		ATPase, H+ transporting, lysosomal accessory protein 1							147.0	125.0	132.0					X																	153662708		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153662708A>G	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.839A>G	X.37:g.153662708A>G	ENSP00000358777:p.Asp280Gly						p.D280G	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			7	900	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		280					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.839A>G	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	A	0.915	-0.717791	0.03182	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.31	-3.51	0.04696	.	0.820502	0.12018	N	0.507267	T	0.18173	0.0436	N	0.04746	-0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.29274	-1.0017	9	0.15499	T	0.54	-2.2665	11.6706	0.51399	0.494:0.0:0.506:0.0	.	240;280	B3KR70;Q15904	.;VAS1_HUMAN	G	280;210;104	.	ENSP00000358777:D280G	D	+	2	0	ATP6AP1	153315902	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.069000	0.11542	-0.740000	0.04803	-0.395000	0.06472	GAC		0.557	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		81	51	0	0	0	0.870114	0	81	51				
TULP2	7288	broad.mit.edu	37	19	49385360	49385360	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49385360T>C	ENST00000221399.3	-	12	1520	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	459					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGAGCGTGTAGACACCGTT	0.527																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1375-1377)tAc>tGc		tubby like protein 2							149.0	119.0	129.0					19																	49385360		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49385360T>C	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1376A>G	19.37:g.49385360T>C	ENSP00000221399:p.Tyr459Cys						p.Y459C	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	12	1520	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	459					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1376A>G	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726082	0.30593	.	.	ENSG00000104804	ENST00000221399;ENST00000522341	D;D	0.90676	-2.71;-2.71	4.62	2.46	0.29980	Tubby, C-terminal (4);	0.068671	0.64402	D	0.000011	D	0.94069	0.8099	M	0.79926	2.475	0.48395	D	0.999644	D	0.89917	1.0	D	0.83275	0.996	D	0.92464	0.5980	10	0.87932	D	0	-19.7118	8.0258	0.30436	0.4892:0.0:0.0:0.5108	.	459	O00295	TULP2_HUMAN	C	459;8	ENSP00000221399:Y459C;ENSP00000429131:Y8C	ENSP00000221399:Y459C	Y	-	2	0	TULP2	54077172	1.000000	0.71417	0.991000	0.47740	0.001000	0.01503	3.648000	0.54410	0.337000	0.23665	-0.309000	0.09137	TAC		0.527	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		5	185	0	0	0	0.184627	0	5	185				
ZNF408	79797	broad.mit.edu	37	11	46726767	46726767	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:46726767G>A	ENST00000311764.2	+	5	1747	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGGCGTTTCGTCAGCGGGGC	0.657																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1516-1518)cGt>cAt		zinc finger protein 408							58.0	57.0	57.0					11																	46726767		2199	4297	6496	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726767G>A	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1517G>A	11.37:g.46726767G>A	ENSP00000309606:p.Arg506His						p.R506H	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1747	+			506						Missense_Mutation	SNP	ENST00000311764.2	37	c.1517G>A	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007275	0.75046	.	.	ENSG00000175213	ENST00000311764	T	0.18016	2.24	5.54	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000356	T	0.27205	0.0667	N	0.25890	0.77	0.44048	D	0.996781	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.03641	-1.1017	10	0.19590	T	0.45	-28.8253	15.4627	0.75373	0.0:0.0:0.86:0.14	.	498;506	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	506	ENSP00000309606:R506H	ENSP00000309606:R506H	R	+	2	0	ZNF408	46683343	0.979000	0.34478	1.000000	0.80357	0.761000	0.43186	4.271000	0.58902	1.414000	0.47017	0.462000	0.41574	CGT		0.657	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		40	111	0	0	0	0.870114	0	40	111				
ACSL4	2182	broad.mit.edu	37	X	108912280	108912280	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:108912280A>G	ENST00000469796.2	-	10	1644	c.1248T>C	c.(1246-1248)gaT>gaC	p.D416D	ACSL4_ENST00000348502.6_Silent_p.D375D|ACSL4_ENST00000340800.2_Silent_p.D416D			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	416					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AAAGAGGTGCATCATATCCCT	0.323																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1246-1248)gaT>gaC		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						143.0	136.0	138.0					X																	108912280		2203	4297	6500	SO:0001819	synonymous_variant	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108912280A>G	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1248T>C	X.37:g.108912280A>G						ACSL4_ENST00000348502.6_Silent_p.D375D|ACSL4_ENST00000469796.2_Silent_p.D416D	p.D416D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			11	1752	-			416					D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	c.1248T>C	CCDS14548.1																																																																																				0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		76	58	0	0	0	0.870114	0	76	58				
STRN3	29966	broad.mit.edu	37	14	31420083	31420083	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:31420083T>A	ENST00000357479.5	-	4	724	c.528A>T	c.(526-528)agA>agT	p.R176S	STRN3_ENST00000355683.5_Missense_Mutation_p.R176S	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	176	Calmodulin-binding. {ECO:0000255}.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTAAAAGCTGTCTGCCTTGCT	0.338																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(526-528)agA>agT		striatin, calmodulin binding protein 3							134.0	133.0	133.0					14																	31420083		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31420083T>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.528A>T	14.37:g.31420083T>A	ENSP00000350071:p.Arg176Ser					STRN3_ENST00000357479.5_Missense_Mutation_p.R176S	p.R176S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	4	743	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		176			Calmodulin-binding (Potential).		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.528A>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.899104	0.72754	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	T;T	0.79454	-1.27;-1.23	5.93	3.59	0.41128	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.87381	2.88	0.58432	D	0.999996	D;D	0.69078	0.963;0.997	P;D	0.80764	0.678;0.994	D	0.85580	0.1239	10	0.87932	D	0	-19.4463	5.1409	0.14959	0.1251:0.1975:0.0:0.6774	.	176;176	Q13033-2;Q13033	.;STRN3_HUMAN	S	176;176;57	ENSP00000347909:R176S;ENSP00000350071:R176S	ENSP00000347909:R176S	R	-	3	2	STRN3	30489834	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.302000	0.19192	1.070000	0.40811	0.529000	0.55759	AGA		0.338	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		52	137	0	0	0	0.870114	0	52	137				
MPV17	4358	broad.mit.edu	37	2	27535925	27535925	+	Missense_Mutation	SNP	C	C	A	rs397507438|rs140992482		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:27535925C>A	ENST00000380044.1	-	3	177	c.122G>T	c.(121-123)cGg>cTg	p.R41L	MPV17_ENST00000402722.1_Silent_p.A29A|MPV17_ENST00000402310.1_Missense_Mutation_p.R41L|MPV17_ENST00000405983.1_Missense_Mutation_p.R56L|MPV17_ENST00000405076.1_Missense_Mutation_p.R41L|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.R41L|MPV17_ENST00000233545.2_Missense_Mutation_p.R41L	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	41					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)		p.R56L(1)|p.R41L(1)		lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGACCCCGCCTCTCCAC	0.592																																						ENST00000380044.1																			2	Substitution - Missense(2)	p.R56L(1)|p.R41L(1)	lung(2)	lung(4)	4						c.(121-123)cGg>cTg		MpV17 mitochondrial inner membrane protein							102.0	103.0	103.0					2																	27535925		2203	4300	6503	SO:0001583	missense	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535925C>A		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.122G>T	2.37:g.27535925C>A	ENSP00000369383:p.Arg41Leu					MPV17_ENST00000233545.2_Missense_Mutation_p.R41L|MPV17_ENST00000402722.1_Silent_p.A29A|MPV17_ENST00000402310.1_Missense_Mutation_p.R41L|MPV17_ENST00000403262.2_Missense_Mutation_p.R41L|MPV17_ENST00000405983.1_Missense_Mutation_p.R56L|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405076.1_Missense_Mutation_p.R41L	p.R41L	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN			3	177	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.122G>T	CCDS1748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.714549|3.714549	0.68730|0.68730	.|.	.|.	ENSG00000115204|ENSG00000115204	ENST00000430991|ENST00000402310;ENST00000233545;ENST00000380044;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000428910	.|D;D;D;D;D;D;D	.|0.92149	.|-2.21;-2.64;-2.64;-2.68;-2.98;-2.18;-2.03	5.37|5.37	3.54|3.54	0.40534|0.40534	.|.	.|0.071484	.|0.53938	.|D	.|0.000048	D|D	0.92756|0.92756	0.7697|0.7697	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|P;D	.|0.53312	.|0.793;0.959	.|B;P	.|0.48952	.|0.43;0.596	D|D	0.92289|0.92289	0.5840|0.5840	5|10	.|0.59425	.|D	.|0.04	.|.	8.5133|8.5133	0.33231|0.33231	0.0:0.821:0.0:0.179|0.0:0.821:0.0:0.179	.|.	.|41;41	.|P39210;B5MC53	.|MPV17_HUMAN;.	W|L	18|41;41;41;56;41;41;15	.|ENSP00000383955:R41L;ENSP00000233545:R41L;ENSP00000369383:R41L;ENSP00000384586:R56L;ENSP00000385175:R41L;ENSP00000385671:R41L;ENSP00000405235:R15L	.|ENSP00000233545:R41L	G|R	-|-	1|2	0|0	MPV17|MPV17	27389429|27389429	0.974000|0.974000	0.33945|0.33945	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.978000|1.978000	0.40598|0.40598	1.507000|1.507000	0.48752|0.48752	0.609000|0.609000	0.83330|0.83330	GGG|CGG		0.592	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		29	64	1	0	2.64894e-19	0.870114	2.88975e-19	29	64				
RB1	5925	broad.mit.edu	37	13	49051536	49051536	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:49051536A>G	ENST00000267163.4	+	26	2847	c.2709A>G	c.(2707-2709)gaA>gaG	p.E903E	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	903	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AACTGGCAGAAATGAGTAAGT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2707-2709)gaA>gaG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						55.0	57.0	56.0					13																	49051536		2203	4295	6498	SO:0001819	synonymous_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49051536A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2709A>G	13.37:g.49051536A>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_ENST00000484879.1_3'UTR	p.E903E	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	26	2847	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	903			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.2709A>G	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			22	32	0	0	0	0.681144	0	22	32				
ATXN1	6310	broad.mit.edu	37	6	16328183	16328183	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:16328183T>C	ENST00000244769.4	-	8	1295	c.359A>G	c.(358-360)tAc>tGc	p.Y120C	ATXN1_ENST00000436367.1_Missense_Mutation_p.Y120C	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	120					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAGGTGAGCGTACTGCACGGG	0.662																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(358-360)tAc>tGc		ataxin 1							58.0	60.0	60.0					6																	16328183		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328183T>C	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.359A>G	6.37:g.16328183T>C	ENSP00000244769:p.Tyr120Cys					ATXN1_ENST00000436367.1_Missense_Mutation_p.Y120C	p.Y120C	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1295	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	120					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.359A>G	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813632	0.70912	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	D;D	0.82081	-1.57;-1.57	5.11	3.87	0.44632	.	0.058149	0.64402	D	0.000001	D	0.86431	0.5931	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.71184	0.972	D	0.87944	0.2719	10	0.87932	D	0	-19.1625	10.8066	0.46520	0.1417:0.0:0.0:0.8583	.	120	P54253	ATX1_HUMAN	C	120	ENSP00000244769:Y120C;ENSP00000416360:Y120C	ENSP00000244769:Y120C	Y	-	2	0	ATXN1	16436162	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.670000	0.54569	1.925000	0.55765	0.383000	0.25322	TAC		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		33	64	0	0	0	0.750413	0	33	64				
SMOX	54498	broad.mit.edu	37	20	4163091	4163091	+	Missense_Mutation	SNP	T	T	C	rs199631589		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:4163091T>C	ENST00000305958.4	+	5	1190	c.965T>C	c.(964-966)cTg>cCg	p.L322P	SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.L322P|SMOX_ENST00000339123.6_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	322					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GACTGTGAGCTGATCCCGGCG	0.637																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(964-966)cTg>cCg		spermine oxidase	Spermine(DB00127)						90.0	79.0	83.0					20																	4163091		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163091T>C	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.965T>C	20.37:g.4163091T>C	ENSP00000307252:p.Leu322Pro					SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.L322P	p.L322P	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1190	+			322					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.965T>C	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839231	0.32513	.	.	ENSG00000088826	ENST00000305958;ENST00000379460;ENST00000457205	D;D;D	0.92699	-3.09;-3.09;-3.09	5.79	5.79	0.91817	Amine oxidase (1);	0.463679	0.25324	N	0.031481	D	0.83036	0.5167	N	0.13168	0.305	0.36759	D	0.883172	P;B	0.38440	0.631;0.039	B;B	0.32393	0.145;0.01	D	0.85000	0.0899	9	.	.	.	-4.9571	14.118	0.65167	0.0:0.0:0.0:1.0	.	322;322	Q9NWM0-6;Q9NWM0	.;SMOX_HUMAN	P	322;322;179	ENSP00000307252:L322P;ENSP00000368773:L322P;ENSP00000407269:L179P	.	L	+	2	0	SMOX	4111091	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.342000	0.65970	2.221000	0.72209	0.456000	0.33151	CTG		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		23	62	0	0	0	0.667858	0	23	62				
LRIT3	345193	broad.mit.edu	37	4	110791607	110791607	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:110791607A>G	ENST00000594814.1	+	4	1702	c.1702A>G	c.(1702-1704)Acc>Gcc	p.T568A	LRIT3_ENST00000379920.3_Missense_Mutation_p.T523A|LRIT3_ENST00000409621.2_Missense_Mutation_p.T385A|LRIT3_ENST00000327908.3_Missense_Mutation_p.T385A	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	568	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCAATGCATCACCTTTTCTAC	0.463																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1153-1155)Acc>Gcc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							149.0	141.0	144.0					4																	110791607		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791607A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1702A>G	4.37:g.110791607A>G	ENSP00000469759:p.Thr568Ala					LRIT3_ENST00000594814.1_Missense_Mutation_p.T568A|LRIT3_ENST00000409621.2_Missense_Mutation_p.T385A|LRIT3_ENST00000379920.3_Missense_Mutation_p.T523A	p.T385A			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1917	+			523			Ser-rich.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1153A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836310	0.50951	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.58210	0.35;0.58;0.35	5.16	5.16	0.70880	.	0.236499	0.44483	D	0.000458	T	0.41213	0.1149	L	0.54323	1.7	0.27378	N	0.955508	P;P	0.43094	0.799;0.571	B;B	0.33960	0.079;0.173	T	0.47774	-0.9091	10	0.39692	T	0.17	.	8.4643	0.32947	0.8476:0.0:0.1524:0.0	.	523;385	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	A	385;523;385	ENSP00000328222:T385A;ENSP00000369252:T523A;ENSP00000386734:T385A	ENSP00000328222:T385A	T	+	1	0	LRIT3	111011056	0.999000	0.42202	0.990000	0.47175	0.752000	0.42762	2.379000	0.44318	1.943000	0.56356	0.533000	0.62120	ACC		0.463	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		4	98	0	0	0	0.150653	0	4	98				
ARHGEF1	9138	broad.mit.edu	37	19	42408499	42408499	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:42408499C>T	ENST00000354532.3	+	22	2273	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R691W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R676W|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R765W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R724W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	709	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGTGCTGCGGCTCACCTC	0.677																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2293-2295)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 1							14.0	14.0	14.0					19																	42408499		2193	4279	6472	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42408499C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2125C>T	19.37:g.42408499C>T	ENSP00000346532:p.Arg709Trp					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R676W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R724W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R691W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R709W	p.R765W			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	23	2418	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	709					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2293C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623484	0.46840	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.84	3.84	0.44239	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.591199	0.15548	N	0.256577	T	0.27419	0.0673	N	0.19112	0.55	0.43750	D	0.996252	B;B;B;B	0.22983	0.039;0.078;0.03;0.018	B;B;B;B	0.12837	0.002;0.008;0.004;0.007	T	0.14364	-1.0475	10	0.87932	D	0	-11.0132	9.191	0.37200	0.2173:0.7827:0.0:0.0	.	691;724;676;709	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	W	709;676;724;691	ENSP00000346532:R709W;ENSP00000344429:R676W;ENSP00000337261:R724W;ENSP00000367394:R691W	ENSP00000337261:R724W	R	+	1	2	ARHGEF1	47100339	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.875000	0.48491	1.869000	0.54173	0.460000	0.39030	CGG		0.677	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		4	5	0	0	0	0.150653	0	4	5				
CHD4	1108	broad.mit.edu	37	12	6710842	6710842	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6710842T>C	ENST00000357008.2	-	5	692	c.529A>G	c.(529-531)Aac>Gac	p.N177D	CHD4_ENST00000544040.1_Missense_Mutation_p.N170D|CHD4_ENST00000309577.6_Missense_Mutation_p.N177D|CHD4_ENST00000544484.1_Missense_Mutation_p.N174D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	177					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCTTGTAGTTGGTGAGGGTT	0.478																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(529-531)Aac>Gac		chromodomain helicase DNA binding protein 4							271.0	277.0	275.0					12																	6710842		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710842T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.529A>G	12.37:g.6710842T>C	ENSP00000349508:p.Asn177Asp					CHD4_ENST00000357008.2_Missense_Mutation_p.N177D|CHD4_ENST00000544484.1_Missense_Mutation_p.N174D|CHD4_ENST00000544040.1_Missense_Mutation_p.N170D	p.N177D			Q14839	CHD4_HUMAN			5	692	-			177					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.529A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700766	0.68501	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.91068	-2.75;-2.78;-2.74;-2.77;0.5	5.87	5.87	0.94306	CHD, N-terminal (1);	0.114948	0.56097	D	0.000034	D	0.94778	0.8314	M	0.72894	2.215	0.58432	D	0.999999	P;D;D	0.67145	0.701;0.962;0.996	B;P;D	0.76071	0.275;0.847;0.987	D	0.95149	0.8271	10	0.72032	D	0.01	3.09	15.9452	0.79787	0.0:0.0:0.0:1.0	.	177;177;170	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	174;170;177;177;151;177	ENSP00000440392:N174D;ENSP00000440542:N170D;ENSP00000312419:N177D;ENSP00000349508:N177D;ENSP00000437506:N177D	ENSP00000312419:N177D	N	-	1	0	CHD4	6581103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.239000	0.73571	0.528000	0.53228	AAC		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		246	437	0	0	0	0.870114	0	246	437				
HTR5A	3361	broad.mit.edu	37	7	154863209	154863209	+	Silent	SNP	C	C	T	rs577000054	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:154863209C>T	ENST00000287907.2	+	1	1176	c.600C>T	c.(598-600)taC>taT	p.Y200Y	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	200					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AGCCTTCCTACGCCGTGTTCT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16973	0.0		0.0	False		,,,				2504	0.002					ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(598-600)taC>taT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							86.0	71.0	76.0					7																	154863209		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863209C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.600C>T	7.37:g.154863209C>T						AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.Y200Y	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1176	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	200					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.600C>T	CCDS5936.1																																																																																				0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		12	32	0	0	0	0.479597	0	12	32				
AHCTF1	25909	broad.mit.edu	37	1	247024444	247024444	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:247024444T>C	ENST00000391829.2	-	29	4012	c.3889A>G	c.(3889-3891)Agt>Ggt	p.S1297G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1306G|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1332G|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1297	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCTAAACTTTGTGACCCC	0.453																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3994-3996)Agt>Ggt		AT hook containing transcription factor 1							93.0	80.0	85.0					1																	247024444		2202	4299	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024444T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3889A>G	1.37:g.247024444T>C	ENSP00000375705:p.Ser1297Gly					AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1306G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1297G	p.S1332G			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		29	4130	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1297			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3994A>G		.	.	.	.	.	.	.	.	.	.	t	5.123	0.208282	0.09757	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35973	1.28;1.29;1.29	5.84	2.12	0.27331	.	0.598969	0.17517	N	0.171417	T	0.24044	0.0582	L	0.42245	1.32	0.09310	N	1	B;B;B	0.14438	0.01;0.001;0.001	B;B;B	0.11329	0.006;0.003;0.002	T	0.22591	-1.0212	10	0.38643	T	0.18	-1.2945	1.3734	0.02215	0.1349:0.1533:0.2803:0.4315	.	158;1332;1297	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	G	1332;1306;1297	ENSP00000355464:S1332G;ENSP00000355465:S1306G;ENSP00000375705:S1297G	ENSP00000355465:S1306G	S	-	1	0	AHCTF1	245091067	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	0.160000	0.19432	-0.330000	0.08379	AGT		0.453	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		62	95	0	0	0	0.870114	0	62	95				
KCNN2	3781	broad.mit.edu	37	5	113822745	113822745	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:113822745A>G	ENST00000512097.3	+	7	2272		c.e7-1		RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Splice_Site|KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTCTCTTAACAGGTAAAAAAT	0.373																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.e7-1		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							61.0	61.0	61.0					5																	113822745		2202	4300	6502	SO:0001630	splice_region_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113822745A>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1255-1A>G	5.37:g.113822745A>G						KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site|KCNN2_ENST00000503706.1_Splice_Site				Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	7	2272	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)						A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Splice_Site	SNP	ENST00000512097.3	37		CCDS4114.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565215	0.65651	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0129	0.71562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNN2	113850644	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	8.782000	0.91809	2.074000	0.62210	0.529000	0.55759	.		0.373	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	Intron	41	83	0	0	0	0.847076	0	41	83				
ZNF771	51333	broad.mit.edu	37	16	30419389	30419389	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:30419389G>A	ENST00000319296.5	+	2	392	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ZNF771_ENST00000566625.1_Silent_p.Q5Q|ZNF771_ENST00000434417.1_Silent_p.Q5Q|ZNF771_ENST00000564550.1_Silent_p.Q5Q			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	5	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			CTGGCGAACagcaggcagagg	0.652																																						ENST00000319296.5																			0											c.(13-15)caG>caA		zinc finger protein 771							211.0	201.0	204.0					16																	30419389		692	1591	2283	SO:0001819	synonymous_variant	51333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30419389G>A	BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"""Zinc fingers, C2H2-type"""	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.15G>A	16.37:g.30419389G>A						ZNF771_ENST00000564550.1_Silent_p.Q5Q|ZNF771_ENST00000566625.1_Silent_p.Q5Q|ZNF771_ENST00000434417.1_Silent_p.Q5Q	p.Q5Q			Q7L3S4	ZN771_HUMAN	Colorectal(24;0.193)		2	392	+			5			Glu-rich.		Q8TAQ7|Q9NYI6	Silent	SNP	ENST00000319296.5	37	c.15G>A	CCDS45460.1																																																																																				0.652	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434612.2	NM_016643		10	15	0	0	0	0.387290	0	10	15				
ALS2	57679	broad.mit.edu	37	2	202591542	202591542	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:202591542T>C	ENST00000264276.6	-	18	3399	c.3027A>G	c.(3025-3027)agA>agG	p.R1009R	ALS2_ENST00000457679.2_Silent_p.R321R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1009					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAGACATCCCTCTCAAAGCCT	0.448																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3025-3027)agA>agG		amyotrophic lateral sclerosis 2 (juvenile)							62.0	62.0	62.0					2																	202591542		1922	4149	6071	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202591542T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3027A>G	2.37:g.202591542T>C						ALS2_ENST00000457679.2_Silent_p.R321R	p.R1009R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			18	3399	-			1009					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.3027A>G	CCDS42800.1																																																																																				0.448	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		6	76	0	0	0	0.248553	0	6	76				
PLAT	5327	broad.mit.edu	37	8	42040264	42040264	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:42040264A>G	ENST00000220809.4	-	8	1032	c.776T>C	c.(775-777)cTg>cCg	p.L259P	PLAT_ENST00000524009.1_Missense_Mutation_p.L170P|PLAT_ENST00000352041.3_Missense_Mutation_p.L213P|PLAT_ENST00000519510.1_Missense_Mutation_p.L196P|PLAT_ENST00000429710.2_Missense_Mutation_p.L133P|PLAT_ENST00000429089.2_Missense_Mutation_p.L259P|PLAT_ENST00000270189.6_Missense_Mutation_p.L259P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	259	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCCCAGGCCCAGTGCCTGGGC	0.592																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(775-777)cTg>cCg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						86.0	92.0	90.0					8																	42040264		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42040264A>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.776T>C	8.37:g.42040264A>G	ENSP00000220809:p.Leu259Pro					PLAT_ENST00000519510.1_Missense_Mutation_p.L196P|PLAT_ENST00000429089.2_Missense_Mutation_p.L259P|PLAT_ENST00000429710.2_Missense_Mutation_p.L133P|PLAT_ENST00000524009.1_Missense_Mutation_p.L170P|PLAT_ENST00000352041.3_Missense_Mutation_p.L213P|PLAT_ENST00000270189.6_Missense_Mutation_p.L259P	p.L259P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	1032	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	259			Kringle 2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.776T>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	A	6.124	0.391157	0.11581	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.41	5.41	0.78517	Kringle (4);Kringle-like fold (1);	0.222920	0.39475	N	0.001351	D	0.89677	0.6784	M	0.90145	3.09	0.80722	D	1	D;D;B;D;D	0.89917	0.996;1.0;0.167;0.987;0.998	D;D;B;D;D	0.79784	0.989;0.993;0.201;0.952;0.977	D	0.91312	0.5075	10	0.56958	D	0.05	.	14.6221	0.68594	1.0:0.0:0.0:0.0	.	133;170;259;213;259	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	P	259;259;259;213;196;133;170	ENSP00000270189:L259P;ENSP00000392045:L259P;ENSP00000220809:L259P;ENSP00000270188:L213P;ENSP00000428886:L196P;ENSP00000407861:L133P;ENSP00000429401:L170P	ENSP00000220809:L259P	L	-	2	0	PLAT	42159421	1.000000	0.71417	0.895000	0.35142	0.361000	0.29550	7.734000	0.84928	2.059000	0.61396	0.533000	0.62120	CTG		0.592	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		101	192	0	0	0	0.870114	0	101	192				
TMEM68	137695	broad.mit.edu	37	8	56675151	56675151	+	Intron	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:56675151C>T	ENST00000434581.2	-	3	525				TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.C123Y|TMEM68_ENST00000521229.1_Missense_Mutation_p.C123Y			Q96MH6	TMM68_HUMAN	transmembrane protein 68							integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TCCAATGCAGCACACATGAAT	0.403																																						ENST00000521229.1																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(367-369)tGc>tAc		transmembrane protein 68							82.0	75.0	78.0					8																	56675151		2203	4300	6503	SO:0001627	intron_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56675151C>T	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.325+42G>A	8.37:g.56675151C>T						TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Intron|TMEM68_ENST00000434581.2_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.C123Y	p.C123Y			Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		3	580	-			0					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.368G>A		.	.	.	.	.	.	.	.	.	.	C	4.336	0.061723	0.08339	.	.	ENSG00000167904	ENST00000521229;ENST00000522576	.	.	.	4.86	0.904	0.19302	.	.	.	.	.	T	0.28830	0.0715	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27297	-1.0078	7	0.87932	D	0	.	5.1078	0.14793	0.0:0.5698:0.1548:0.2754	.	123	Q96MH6-3	.	Y	123	.	ENSP00000429210:C123Y	C	-	2	0	TMEM68	56837705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.067000	0.11579	0.190000	0.20209	-0.305000	0.09177	TGC		0.403	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		65	112	0	0	0	0.870114	0	65	112				
MTUS2	23281	broad.mit.edu	37	13	29600226	29600226	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:29600226A>G	ENST00000431530.3	+	1	1479	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	464						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTGGGAATAAGGACAGTGTT	0.512																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1420-1422)aAg>aGg		microtubule associated tumor suppressor candidate 2							85.0	91.0	89.0					13																	29600226		1958	4149	6107	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600226A>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1421A>G	13.37:g.29600226A>G	ENSP00000392057:p.Lys474Arg						p.K474R	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1479	+			464					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1421A>G	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	10.82	1.457192	0.26161	.	.	ENSG00000132938	ENST00000431530	T	0.11277	2.79	5.51	-10.4	0.00318	.	3.019370	0.00951	N	0.002968	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	9	.	.	.	.	0.0244	0.00004	0.2745:0.2184:0.2145:0.2926	.	464	Q5JR59	MTUS2_HUMAN	R	474	ENSP00000392057:K474R	.	K	+	2	0	MTUS2	28498226	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.497000	0.02289	-1.793000	0.01258	0.533000	0.62120	AAG		0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		22	57	0	0	0	0.608945	0	22	57				
TRGV4	6977	broad.mit.edu	37	7	38393527	38393527	+	RNA	SNP	G	G	T	rs111340760	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:38393527G>T	ENST00000390345.2	-	0	476									T cell receptor gamma variable 4																		GATGTAGCCGGTACTTCCTTC	0.512													G|||	3	0.000599042	0.0	0.0014	5008	,	,		13876	0.0		0.001	False		,,,				2504	0.001					ENST00000390345.2																			0															G		4,3690		1,2,1844	106.0	92.0	96.0			-5.3	0.0	7	dbSNP_132	96	2,7858		0,2,3928	no	intergenic				1,4,5772	TT,TG,GG		0.0254,0.1083,0.0519			38393527	6,11548	1847	3930	5777			6977							g.chr7:38393527G>T	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393527G>T														0	476	-									RNA	SNP	ENST00000390345.2	37																																																																																						0.512	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	NG_001336		11	95	1	0	3.27435e-08	0.457914	3.41672e-08	11	95				
STOML1	9399	broad.mit.edu	37	15	74281026	74281026	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:74281026C>A	ENST00000316900.5	-	4	632	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	STOML1_ENST00000561656.1_Missense_Mutation_p.A83S|STOML1_ENST00000359750.4_Missense_Mutation_p.A170S|STOML1_ENST00000541638.1_Missense_Mutation_p.A128S|STOML1_ENST00000316911.6_Missense_Mutation_p.A120S|STOML1_ENST00000564777.1_Missense_Mutation_p.A120S	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	170						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCGTTCTGGGCTGTCATGCGT	0.607																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(508-510)Gcc>Tcc		stomatin (EPB72)-like 1							116.0	102.0	107.0					15																	74281026		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281026C>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.508G>T	15.37:g.74281026C>A	ENSP00000319323:p.Ala170Ser					STOML1_ENST00000316911.6_Missense_Mutation_p.A120S|STOML1_ENST00000541638.1_Missense_Mutation_p.A128S|STOML1_ENST00000359750.4_Missense_Mutation_p.A170S|STOML1_ENST00000561656.1_Missense_Mutation_p.A83S|STOML1_ENST00000564777.1_Missense_Mutation_p.A120S	p.A170S	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			4	632	-			170					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.508G>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684523	0.88639	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	4.34	4.34	0.51931	.	0.051278	0.85682	D	0.000000	D	0.95806	0.8635	L	0.49640	1.575	0.80722	D	1	D;P;D;P;D;D	0.71674	0.998;0.843;0.957;0.843;0.998;0.998	D;P;P;P;D;D	0.71870	0.975;0.462;0.709;0.462;0.975;0.975	D	0.95671	0.8723	10	0.49607	T	0.09	-22.4911	15.6083	0.76692	0.0:1.0:0.0:0.0	.	128;170;120;170;170;170	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	S	170;120;128;170	ENSP00000319323:A170S;ENSP00000319384:A120S;ENSP00000442478:A128S;ENSP00000352788:A170S	ENSP00000319323:A170S	A	-	1	0	STOML1	72068079	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	6.716000	0.74702	2.250000	0.74265	0.655000	0.94253	GCC		0.607	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		47	87	1	0	2.48254e-18	0.870114	2.69075e-18	47	87				
HHIPL1	84439	broad.mit.edu	37	14	100129284	100129284	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:100129284G>A	ENST00000330710.5	+	6	1672	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G525D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	525					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ATGGGCCACGGCCAGACCTGT	0.582																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1573-1575)gGc>gAc		HHIP-like 1							110.0	92.0	98.0					14																	100129284		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129284G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1574G>A	14.37:g.100129284G>A	ENSP00000330601:p.Gly525Asp					HHIPL1_ENST00000357223.2_Missense_Mutation_p.G525D	p.G525D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			6	1672	+		Melanoma(154;0.128)	525					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1574G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073817	0.55646	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.11169	2.8;2.8	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	N	0.11673	0.155	0.80722	D	1	B;B	0.24721	0.11;0.009	B;B	0.33196	0.159;0.03	T	0.38542	-0.9656	10	0.30078	T	0.28	.	18.0427	0.89323	0.0:0.0:1.0:0.0	.	525;525	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	D	525	ENSP00000330601:G525D;ENSP00000349757:G525D	ENSP00000330601:G525D	G	+	2	0	HHIPL1	99199037	1.000000	0.71417	0.995000	0.50966	0.862000	0.49288	7.850000	0.86915	2.267000	0.75376	0.655000	0.94253	GGC		0.582	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		32	61	0	0	0	0.812448	0	32	61				
DSG3	1830	broad.mit.edu	37	18	29046491	29046491	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:29046491A>G	ENST00000257189.4	+	11	1494		c.e11-1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTTCTTACAGAATACACGG	0.358																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.e11-1		desmoglein 3							90.0	89.0	89.0					18																	29046491		2203	4300	6503	SO:0001630	splice_region_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046491A>G	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1412-1A>G	18.37:g.29046491A>G								NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1494	+								A8K2V2	Splice_Site	SNP	ENST00000257189.4	37		CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.215351	0.39102	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2775	0.73753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG3	27300489	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	5.782000	0.68973	2.285000	0.76669	0.477000	0.44152	.		0.358	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	Intron	80	147	0	0	0	0.870114	0	80	147				
VPS18	57617	broad.mit.edu	37	15	41192359	41192359	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:41192359T>C	ENST00000220509.5	+	4	1682	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	448					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCTATGCCCTGACCCAGAGC	0.622																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1342-1344)cTg>cCg		vacuolar protein sorting 18 homolog (S. cerevisiae)							58.0	62.0	61.0					15																	41192359		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192359T>C	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1343T>C	15.37:g.41192359T>C	ENSP00000220509:p.Leu448Pro					VPS18_ENST00000558474.1_Intron	p.L448P	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1682	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	448					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1343T>C	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696112	0.30052	.	.	ENSG00000104142	ENST00000220509	T	0.23147	1.92	5.06	3.91	0.45181	.	0.066174	0.64402	D	0.000007	T	0.24198	0.0586	M	0.63428	1.95	0.80722	D	1	P	0.43826	0.818	B	0.36335	0.222	T	0.03130	-1.1069	10	0.45353	T	0.12	-13.1417	11.26	0.49078	0.1371:0.0:0.0:0.8629	.	448	Q9P253	VPS18_HUMAN	P	448	ENSP00000220509:L448P	ENSP00000220509:L448P	L	+	2	0	VPS18	38979651	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.118000	0.64673	0.842000	0.35045	0.459000	0.35465	CTG		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			44	108	0	0	0	0.870114	0	44	108				
NOP14	8602	broad.mit.edu	37	4	2955332	2955332	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:2955332G>A	ENST00000314262.6	-	5	701	c.653C>T	c.(652-654)aCg>aTg	p.T218M	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.T218M|NOP14_ENST00000398071.4_Missense_Mutation_p.T218M|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.T218M	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	218					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGCTTCTCCGTGAGCTCGAG	0.483																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(652-654)aCg>aTg		NOP14 nucleolar protein							273.0	254.0	260.0					4																	2955332		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2955332G>A	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.653C>T	4.37:g.2955332G>A	ENSP00000315674:p.Thr218Met					NOP14_ENST00000314262.6_Missense_Mutation_p.T218M|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.T218M|NOP14_ENST00000502735.1_Missense_Mutation_p.T218M	p.T218M			P78316	NOP14_HUMAN			5	718	-			218					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.653C>T	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243259	0.79912	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.79258	2.445	0.80722	D	1	D;D	0.64830	0.989;0.994	P;P	0.61275	0.886;0.876	T	0.62530	-0.6835	10	0.87932	D	0	-23.1351	17.7776	0.88514	0.0:0.0:1.0:0.0	.	218;218	E9PFK5;P78316	.;NOP14_HUMAN	M	218;218;218;218;117	ENSP00000405068:T218M;ENSP00000315674:T218M;ENSP00000427415:T218M;ENSP00000381146:T218M	ENSP00000315674:T218M	T	-	2	0	NOP14	2925130	1.000000	0.71417	0.973000	0.42090	0.708000	0.40852	9.291000	0.96070	2.301000	0.77427	0.491000	0.48974	ACG		0.483	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		203	185	0	0	0	0.870114	0	203	185				
ACLY	47	broad.mit.edu	37	17	40049293	40049293	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:40049293G>T	ENST00000352035.2	-	15	1724	c.1594C>A	c.(1594-1596)Cct>Act	p.P532T	ACLY_ENST00000537919.1_Missense_Mutation_p.P261T|ACLY_ENST00000393896.2_Missense_Mutation_p.P522T|ACLY_ENST00000590151.1_Missense_Mutation_p.P532T|ACLY_ENST00000353196.1_Missense_Mutation_p.P522T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	532					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CACGTGAAAGGGTAGACCATG	0.577																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1594-1596)Cct>Act		ATP citrate lyase							62.0	62.0	62.0					17																	40049293		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40049293G>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1594C>A	17.37:g.40049293G>T	ENSP00000253792:p.Pro532Thr					ACLY_ENST00000393896.2_Missense_Mutation_p.P522T|ACLY_ENST00000537919.1_Missense_Mutation_p.P261T|ACLY_ENST00000353196.1_Missense_Mutation_p.P522T|ACLY_ENST00000590151.1_Missense_Mutation_p.P532T	p.P532T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			15	1724	-		Breast(137;0.000143)	532					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1594C>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029912	0.93575	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	6.08	6.08	0.98989	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91580	0.7340	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.998;0.998;0.999;0.996	D	0.90506	0.4477	10	0.46703	T	0.11	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	261;576;586;522;532	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	532;586;522;261;522	ENSP00000253792:P532T;ENSP00000345398:P522T;ENSP00000445349:P261T;ENSP00000377474:P522T	ENSP00000253792:P532T	P	-	1	0	ACLY	37302819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.605000	0.98321	2.894000	0.99253	0.655000	0.94253	CCT		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		4	58	1	0	0.150653	0.150653	0.151556	4	58				
WWP2	11060	broad.mit.edu	37	16	69832614	69832614	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:69832614C>T	ENST00000359154.2	+	3	201	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	WWP2_ENST00000569174.1_Missense_Mutation_p.R34C|WWP2_ENST00000448661.1_Missense_Mutation_p.R34C|WWP2_ENST00000356003.2_Missense_Mutation_p.R34C	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	34	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGCATAATCGTCAACCTCG	0.542											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(100-102)Cgt>Tgt		WW domain containing E3 ubiquitin protein ligase 2							140.0	137.0	138.0					16																	69832614		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69832614C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.100C>T	16.37:g.69832614C>T	ENSP00000352069:p.Arg34Cys		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000569174.1_Missense_Mutation_p.R34C|WWP2_ENST00000356003.2_Missense_Mutation_p.R34C|WWP2_ENST00000448661.1_Missense_Mutation_p.R34C	p.R34C	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			3	201	+			34			C2.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.100C>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241724	0.95272	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.68025	-0.3;-0.3;-0.3	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.72178	-0.4369	9	.	.	.	.	16.6952	0.85333	0.0:1.0:0.0:0.0	.	34	O00308	WWP2_HUMAN	C	34	ENSP00000352069:R34C;ENSP00000396871:R34C;ENSP00000348283:R34C	.	R	+	1	0	WWP2	68390115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.116000	0.64661	2.713000	0.92767	0.655000	0.94253	CGT		0.542	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		56	139	0	0	0	0.870114	0	56	139				
VSTM2L	128434	broad.mit.edu	37	20	36572445	36572445	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:36572445G>A	ENST00000373461.4	+	4	652	c.405G>A	c.(403-405)acG>acA	p.T135T	VSTM2L_ENST00000373459.4_Missense_Mutation_p.G62R|VSTM2L_ENST00000373458.3_Silent_p.T118T	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	135	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TGAAGCCCACGGACGAAGGCA	0.642																																						ENST00000373459.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8						c.(184-186)Gga>Aga		V-set and transmembrane domain containing 2 like							56.0	39.0	45.0					20																	36572445		2203	4300	6503	SO:0001819	synonymous_variant	128434							g.chr20:36572445G>A	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.405G>A	20.37:g.36572445G>A						VSTM2L_ENST00000373461.4_Silent_p.T135T|VSTM2L_ENST00000373458.3_Silent_p.T118T	p.G62R			Q96N03	VTM2L_HUMAN			2	424	+		Myeloproliferative disorder(115;0.00878)	0			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	c.184G>A	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228084	0.39399	.	.	ENSG00000132821	ENST00000373459	.	.	.	5.44	-3.05	0.05396	.	.	.	.	.	T	0.65668	0.2713	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67146	-0.5744	5	0.45353	T	0.12	-26.7824	12.168	0.54141	0.4793:0.0:0.5207:0.0	.	.	.	.	R	62	.	ENSP00000362558:G62R	G	+	1	0	VSTM2L	36005859	0.032000	0.19561	0.991000	0.47740	0.981000	0.71138	-0.775000	0.04679	-0.367000	0.08052	-0.448000	0.05591	GGA		0.642	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			9	20	0	0	0	0.361761	0	9	20				
RIC8A	60626	broad.mit.edu	37	11	205968	205968	+	5'Flank	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:205968A>G	ENST00000526104.1	+	0	0				BET1L_ENST00000382762.3_Missense_Mutation_p.V32A|BET1L_ENST00000486280.1_Missense_Mutation_p.V9A|BET1L_ENST00000529614.2_Missense_Mutation_p.V32A|BET1L_ENST00000410108.1_Missense_Mutation_p.V32A|RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000332865.6_Missense_Mutation_p.V32A|BET1L_ENST00000325147.9_Missense_Mutation_p.V32A|RIC8A_ENST00000325207.5_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCCTGGTGACTTTGGAGGC	0.587																																						ENST00000325147.9																			0											c.(94-96)gTc>gCc		Bet1 golgi vesicular membrane trafficking protein-like							100.0	91.0	94.0					11																	205968		2203	4300	6503	SO:0001631	upstream_gene_variant	51272				protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity	g.chr11:205968A>G	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069		11.37:g.205968A>G	Exception_encountered					BET1L_ENST00000382762.3_Missense_Mutation_p.V32A|BET1L_ENST00000332865.6_Missense_Mutation_p.V32A|BET1L_ENST00000486280.1_Missense_Mutation_p.V9A|BET1L_ENST00000410108.1_Missense_Mutation_p.V32A|BET1L_ENST00000529614.2_Missense_Mutation_p.V32A	p.V32A			Q9NYM9	BET1L_HUMAN		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	155	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	32			t-SNARE coiled-coil homology.		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.95T>C		.	.	.	.	.	.	.	.	.	.	A	24.3	4.518427	0.85495	.	.	ENSG00000177951	ENST00000410108;ENST00000325147;ENST00000382762;ENST00000332865;ENST00000529614;ENST00000486280	.	.	.	4.17	4.17	0.49024	Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.945;0.997	D	0.83753	0.0210	9	0.87932	D	0	.	13.4186	0.60982	1.0:0.0:0.0:0.0	.	32;32	Q9NYM9;B8ZZS0	BET1L_HUMAN;.	A	32;32;32;32;32;9	.	ENSP00000339093:V32A	V	-	2	0	BET1L	195968	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.478000	0.90428	2.117000	0.64856	0.454000	0.30748	GTC		0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		30	79	0	0	0	0.796494	0	30	79				
ADAMTSL4	54507	broad.mit.edu	37	1	150532263	150532263	+	Silent	SNP	G	G	A	rs368789447		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:150532263G>A	ENST00000369038.2	+	16	3171	c.2970G>A	c.(2968-2970)acG>acA	p.T990T	ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.T990T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	990	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGGGGAACGCAGACACGGG	0.637											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17067	0.0		0.0	False		,,,				2504	0.0					ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2968-2970)acG>acA		ADAMTS-like 4							94.0	102.0	99.0					1																	150532263		2203	4300	6503	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150532263G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2970G>A	1.37:g.150532263G>A			OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|ADAMTSL4_ENST00000369038.2_Silent_p.T990T	p.T990T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		18	3206	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		990			TSP type-1 6.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.2970G>A	CCDS955.1																																																																																				0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		22	110	0	0	0	0.624587	0	22	110				
BRINP3	339479	broad.mit.edu	37	1	190203594	190203594	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:190203594C>T	ENST00000367462.3	-	5	863	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BRINP3_ENST00000534846.1_Missense_Mutation_p.R109Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	211	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R211Q(1)									AGGACCAGTCCGTGTTTCTGT	0.383																																						ENST00000367462.3																			1	Substitution - Missense(1)	p.R211Q(1)	endometrium(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(631-633)cGg>cAg									123.0	105.0	112.0					1																	190203594		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190203594C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.632G>A	1.37:g.190203594C>T	ENSP00000356432:p.Arg211Gln					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R109Q	p.R211Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			5	863	-	Prostate(682;0.198)		211					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.632G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012428	0.75046	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22539	2.18;1.95	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.064020	0.64402	D	0.000014	T	0.25975	0.0633	M	0.71206	2.165	0.52099	D	0.999946	P;P	0.50710	0.938;0.897	B;B	0.36567	0.228;0.114	T	0.14699	-1.0463	10	0.87932	D	0	.	17.6929	0.88273	0.0:1.0:0.0:0.0	.	109;211	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	211;109	ENSP00000356432:R211Q;ENSP00000438022:R109Q	ENSP00000356432:R211Q	R	-	2	0	FAM5C	188470217	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.968000	0.70413	2.775000	0.95449	0.650000	0.86243	CGG		0.383	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		66	109	0	0	0	0.870114	0	66	109				
PDLIM1	9124	broad.mit.edu	37	10	96998377	96998377	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:96998377T>A	ENST00000329399.6	-	6	859	c.751A>T	c.(751-753)Att>Ttt	p.I251F	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	251					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCATTTCCAATCGACGCAGCC	0.493																																						ENST00000329399.6																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10						c.(751-753)Att>Ttt		PDZ and LIM domain 1							112.0	96.0	101.0					10																	96998377		2203	4300	6503	SO:0001583	missense	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:96998377T>A	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.751A>T	10.37:g.96998377T>A	ENSP00000360305:p.Ile251Phe					PDLIM1_ENST00000477757.1_5'UTR	p.I251F	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	6	859	-		Colorectal(252;0.083)	251					B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	c.751A>T	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001315	0.35320	.	.	ENSG00000107438	ENST00000329399	T	0.22539	1.95	5.24	2.94	0.34122	.	0.277370	0.42053	D	0.000771	T	0.14141	0.0342	M	0.64997	1.995	0.29616	N	0.84656	P	0.39717	0.684	B	0.33042	0.157	T	0.08973	-1.0696	10	0.09590	T	0.72	-10.4165	4.4838	0.11780	0.0:0.1764:0.1681:0.6555	.	251	O00151	PDLI1_HUMAN	F	251	ENSP00000360305:I251F	ENSP00000360305:I251F	I	-	1	0	PDLIM1	96988367	0.161000	0.22892	0.803000	0.32268	0.989000	0.77384	0.585000	0.23879	0.847000	0.35167	0.459000	0.35465	ATT		0.493	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			18	41	0	0	0	0.608945	0	18	41				
DENND4B	9909	broad.mit.edu	37	1	153904719	153904719	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:153904719G>A	ENST00000361217.4	-	24	4375	c.3957C>T	c.(3955-3957)ggC>ggT	p.G1319G	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1319					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCACCAGGCCTGGTAGAA	0.587																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3955-3957)ggC>ggT		DENN/MADD domain containing 4B							40.0	45.0	43.0					1																	153904719		1985	4175	6160	SO:0001819	synonymous_variant	9909							g.chr1:153904719G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3957C>T	1.37:g.153904719G>A						DENND4B_ENST00000474386.1_5'UTR	p.G1319G	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		24	4375	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1319					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.3957C>T	CCDS44228.1																																																																																				0.587	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		8	14	0	0	0	0.307466	0	8	14				
KIRREL	55243	broad.mit.edu	37	1	158064480	158064480	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:158064480C>A	ENST00000359209.6	+	15	1911	c.1844C>A	c.(1843-1845)cCg>cAg	p.P615Q	KIRREL_ENST00000392272.2_Missense_Mutation_p.P512Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.P515Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.P451Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.P631Q|KIRREL_ENST00000368172.1_Missense_Mutation_p.P429Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	615					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAAGACCGCCCGTCTTCCAGG	0.642																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1285-1287)cCg>cAg		kin of IRRE like (Drosophila)							58.0	62.0	60.0					1																	158064480		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064480C>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1844C>A	1.37:g.158064480C>A	ENSP00000352138:p.Pro615Gln					KIRREL_ENST00000360089.4_Missense_Mutation_p.P451Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.P631Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.P512Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.P615Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.P515Q	p.P429Q			Q96J84	KIRR1_HUMAN			11	1298	+	all_hematologic(112;0.0378)		615			Ig-like C2-type 5.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1286C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292859	0.80914	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70869	0.44;-0.52;0.12;-0.07;-0.08;0.3	4.38	4.38	0.52667	.	0.000000	0.42964	D	0.000637	T	0.67961	0.2949	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.69078	0.995;0.986;0.997;0.975	P;P;D;P	0.63597	0.878;0.689;0.916;0.6	T	0.65429	-0.6170	10	0.27785	T	0.31	-23.6934	14.4805	0.67579	0.0:1.0:0.0:0.0	.	515;451;429;615	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	Q	451;631;512;615;515;429	ENSP00000353202:P451Q;ENSP00000357155:P631Q;ENSP00000376098:P512Q;ENSP00000352138:P615Q;ENSP00000389674:P515Q;ENSP00000357154:P429Q	ENSP00000352138:P615Q	P	+	2	0	KIRREL	156331104	.	.	0.878000	0.34440	0.903000	0.53119	.	.	2.255000	0.74692	0.462000	0.41574	CCG		0.642	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		13	32	1	0	3.32936e-07	0.539581	3.46122e-07	13	32				
KRT4	3851	broad.mit.edu	37	12	53202484	53202484	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:53202484G>T	ENST00000551956.1	-	5	1477	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	KRT4_ENST00000293774.4_Missense_Mutation_p.L403M|KRT4_ENST00000458244.2_Missense_Mutation_p.L309M			P19013	K2C4_HUMAN	keratin 4	343	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTCTGGTACAGGGCTTCAGCC	0.562																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1207-1209)Ctg>Atg		keratin 4							83.0	79.0	80.0					12																	53202484		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202484G>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.985C>A	12.37:g.53202484G>T	ENSP00000448220:p.Leu329Met					KRT4_ENST00000551956.1_Missense_Mutation_p.L329M|KRT4_ENST00000458244.2_Missense_Mutation_p.L309M	p.L403M			B4DRS2	B4DRS2_HUMAN			5	1477	-			329					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1207C>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453007	0.43531	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.89196	-2.48;-2.48;-2.48	5.75	-0.42	0.12336	Filament (1);	0.591571	0.13162	N	0.409004	D	0.82614	0.5075	N	0.20304	0.555	0.09310	N	0.999997	P	0.36712	0.566	B	0.42959	0.403	T	0.72950	-0.4136	10	0.49607	T	0.09	.	11.4439	0.50112	0.6322:0.0:0.3678:0.0	.	343	P19013	K2C4_HUMAN	M	329;403;309	ENSP00000448220:L329M;ENSP00000293774:L403M;ENSP00000387904:L309M	ENSP00000293774:L403M	L	-	1	2	KRT4	51488751	0.788000	0.28762	0.009000	0.14445	0.735000	0.41995	1.787000	0.38704	-0.268000	0.09312	0.655000	0.94253	CTG		0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		19	56	1	0	3.7963e-18	0.654019	4.1094e-18	19	56				
OTOGL	283310	broad.mit.edu	37	12	80660299	80660299	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:80660299C>A	ENST00000547103.1	+	20	2272	c.2266C>A	c.(2266-2268)Ctc>Atc	p.L756I	OTOGL_ENST00000458043.2_Missense_Mutation_p.L756I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	756	TIL 2.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGCATTTCTCTCTCTTCCCC	0.468																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2266-2268)Ctc>Atc		otogelin-like							108.0	106.0	107.0					12																	80660299		2092	4227	6319	SO:0001583	missense	283310							g.chr12:80660299C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2266C>A	12.37:g.80660299C>A	ENSP00000447211:p.Leu756Ile					OTOGL_ENST00000547103.1_Missense_Mutation_p.L756I	p.L756I	NM_173591.3	NP_775862.3					20	2272	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2266C>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.011538	0.75046	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.56444	0.46;0.46	5.78	5.78	0.91487	.	.	.	.	.	T	0.71178	0.3309	M	0.70903	2.155	0.53005	D	0.999965	.	.	.	.	.	.	T	0.72184	-0.4367	7	0.66056	D	0.02	.	19.9987	0.97401	0.0:1.0:0.0:0.0	.	.	.	.	I	756	ENSP00000447211:L756I;ENSP00000400895:L756I	ENSP00000400895:L756I	L	+	1	0	OTOGL	79184430	0.870000	0.30015	0.866000	0.34008	0.515000	0.34225	1.580000	0.36547	2.738000	0.93877	0.591000	0.81541	CTC		0.468	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		26	58	1	0	3.28513e-13	0.667858	3.49747e-13	26	58				
GPR133	283383	broad.mit.edu	37	12	131466593	131466593	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:131466593T>C	ENST00000261654.5	+	5	1034	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	GPR133_ENST00000535015.1_Missense_Mutation_p.S191P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	159					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGAGGCCTCCTTCAGCCC	0.602																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(475-477)Tcc>Ccc		G protein-coupled receptor 133							74.0	71.0	72.0					12																	131466593		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466593T>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.475T>C	12.37:g.131466593T>C	ENSP00000261654:p.Ser159Pro					GPR133_ENST00000535015.1_Missense_Mutation_p.S191P	p.S159P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	1034	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		159					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.475T>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	t	15.59	2.878222	0.51801	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74002	-0.8;-0.8	4.23	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.337620	0.29956	N	0.010762	T	0.66479	0.2793	N	0.25485	0.75	0.80722	D	1	P;P	0.39157	0.662;0.523	P;P	0.45377	0.478;0.478	T	0.66221	-0.5978	10	0.87932	D	0	.	9.2851	0.37753	0.8318:0.0:0.0:0.1682	.	191;159	B7ZLF7;Q6QNK2	.;GP133_HUMAN	P	159;191	ENSP00000261654:S159P;ENSP00000444425:S191P	ENSP00000261654:S159P	S	+	1	0	GPR133	130032546	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	3.017000	0.49615	0.580000	0.29522	-0.642000	0.03964	TCC		0.602	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		29	72	0	0	0	0.760397	0	29	72				
PRPS1L1	221823	broad.mit.edu	37	7	18066798	18066798	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:18066798T>C	ENST00000506618.2	-	1	688	c.608A>G	c.(607-609)gAc>gGc	p.D203G		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	203					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACTATGCAGTCCACTTCATT	0.463																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(607-609)gAc>gGc		phosphoribosyl pyrophosphate synthetase 1-like 1							125.0	121.0	122.0					7																	18066798		2202	4300	6502	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066798T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.608A>G	7.37:g.18066798T>C	ENSP00000424595:p.Asp203Gly						p.D203G	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	688	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		203					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.608A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984989	0.35036	.	.	ENSG00000229937	ENST00000506618	D	0.91631	-2.88	4.4	4.4	0.53042	Phosphoribosyltransferase (1);	.	.	.	.	D	0.90397	0.6994	L	0.46567	1.45	.	.	.	B	0.21452	0.056	B	0.36335	0.222	D	0.91138	0.4943	8	0.44086	T	0.13	.	11.9016	0.52687	0.0:0.0:0.0:1.0	.	203	P21108	PRPS3_HUMAN	G	203	ENSP00000424595:D203G	ENSP00000424595:D203G	D	-	2	0	PRPS1L1	18033323	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.559000	0.67326	1.984000	0.57885	0.528000	0.53228	GAC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		64	114	0	0	0	0.870114	0	64	114				
ITIH2	3698	broad.mit.edu	37	10	7791150	7791150	+	Splice_Site	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:7791150G>A	ENST00000358415.4	+	21	2860	c.2694G>A	c.(2692-2694)agG>agA	p.R898R	ITIH2_ENST00000379587.4_Splice_Site_p.R887R	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	898					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCCTTGCAGGGGCTTACAGA	0.493																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.e21-1		inter-alpha-trypsin inhibitor heavy chain 2							198.0	170.0	179.0					10																	7791150		2203	4300	6503	SO:0001630	splice_region_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7791150G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2694-1G>A	10.37:g.7791150G>A						ITIH2_ENST00000379587.4_Splice_Site_p.R887_splice	p.R898_splice	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			21	2860	+			898					Q14659|Q15484|Q5T986	Splice_Site	SNP	ENST00000358415.4	37	c.2693_splice	CCDS31141.1																																																																																				0.493	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Silent	110	204	0	0	0	0.870114	0	110	204				
RBM19	9904	broad.mit.edu	37	12	114395588	114395588	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:114395588T>C	ENST00000545145.2	-	6	917	c.839A>G	c.(838-840)gAg>gGg	p.E280G	RBM19_ENST00000392561.3_Splice_Site_p.E280G|RBM19_ENST00000261741.5_Splice_Site_p.E280G	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	280					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACACGCACCTCGGCTCTGGC	0.622																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.e6+1		RNA binding motif protein 19							113.0	99.0	104.0					12																	114395588		2203	4300	6503	SO:0001630	splice_region_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114395588T>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.840+1A>G	12.37:g.114395588T>C						RBM19_ENST00000392561.3_Splice_Site_p.E280_splice|RBM19_ENST00000261741.5_Splice_Site_p.E280_splice	p.E280_splice	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			6	917	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		280					A8K5X9|Q9BPY6|Q9UFN5	Splice_Site	SNP	ENST00000545145.2	37	c.840_splice	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906307	0.52333	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);	1.021420	0.07772	N	0.951959	T	0.04861	0.0131	N	0.08118	0	0.38981	D	0.95894	B	0.06786	0.001	B	0.04013	0.001	T	0.40794	-0.9544	10	0.30078	T	0.28	-18.1656	13.2404	0.59994	0.0:0.0:0.0:1.0	.	280	Q9Y4C8	RBM19_HUMAN	G	280	ENSP00000442053:E280G;ENSP00000376344:E280G;ENSP00000261741:E280G	ENSP00000261741:E280G	E	-	2	0	RBM19	112879971	0.997000	0.39634	0.893000	0.35052	0.027000	0.11550	3.209000	0.51122	2.126000	0.65437	0.533000	0.62120	GAG		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Missense_Mutation	49	115	0	0	0	0.870114	0	49	115				
ZNF57	126295	broad.mit.edu	37	19	2918270	2918270	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:2918270A>G	ENST00000306908.5	+	4	1799	c.1651A>G	c.(1651-1653)Agt>Ggt	p.S551G	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.S519G	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTAAAACCAGTGAGAGCAC	0.408																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1651-1653)Agt>Ggt		zinc finger protein 57							72.0	73.0	73.0					19																	2918270		2202	4299	6501	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2918270A>G	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1651A>G	19.37:g.2918270A>G	ENSP00000303696:p.Ser551Gly					AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.S519G	p.S551G	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1799	+			551					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1651A>G	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.748641	0.00669	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.05786	3.49;3.39	1.34	-2.68	0.06041	.	.	.	.	.	T	0.04048	0.0113	L	0.34521	1.04	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.42832	-0.9428	9	0.87932	D	0	.	0.0541	0.00013	0.3472:0.1863:0.1886:0.2779	.	551	Q68EA5	ZNF57_HUMAN	G	551;553;519	ENSP00000303696:S551G;ENSP00000430223:S519G	ENSP00000303696:S551G	S	+	1	0	ZNF57	2869270	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.442000	0.06871	-1.297000	0.02351	-0.876000	0.02978	AGT		0.408	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		59	49	0	0	0	0.870114	0	59	49				
BRD9	65980	broad.mit.edu	37	5	884146	884146	+	Silent	SNP	C	C	T	rs540220873		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:884146C>T	ENST00000467963.1	-	8	1039	c.873G>A	c.(871-873)acG>acA	p.T291T	BRD9_ENST00000435709.2_Silent_p.T175T|BRD9_ENST00000483173.1_Silent_p.T238T|BRD9_ENST00000323510.4_Silent_p.T195T|BRD9_ENST00000388890.4_Silent_p.T175T|BRD9_ENST00000494422.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	291					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CGGTACTGTCCGTCAAGCTGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		20238	0.001		0.0	False		,,,				2504	0.0					ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(583-585)acG>acA		bromodomain containing 9							119.0	93.0	102.0					5																	884146		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:884146C>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.873G>A	5.37:g.884146C>T						BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Silent_p.T175T|BRD9_ENST00000483173.1_Silent_p.T238T|BRD9_ENST00000467963.1_Silent_p.T291T|BRD9_ENST00000388890.4_Silent_p.T175T	p.T195T			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		5	584	-			291			Bromo.		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.585G>A	CCDS34127.2																																																																																				0.637	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		32	69	0	0	0	0.812448	0	32	69				
FZD10	11211	broad.mit.edu	37	12	130647929	130647929	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:130647929A>G	ENST00000229030.4	+	1	926	c.442A>G	c.(442-444)Atg>Gtg	p.M148V	FZD10_ENST00000539839.1_Missense_Mutation_p.H115R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	148	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTACCTGTGCATGGAGGCGCC	0.667																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(343-345)cAt>cGt		frizzled family receptor 10							66.0	69.0	68.0					12																	130647929		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647929A>G	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.442A>G	12.37:g.130647929A>G	ENSP00000229030:p.Met148Val					FZD10_ENST00000229030.4_Missense_Mutation_p.M148V	p.H115R	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	926	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			FZ.			Missense_Mutation	SNP	ENST00000229030.4	37	c.344A>G	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.45|11.45	1.642372|1.642372	0.29246|0.29246	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|T	.|0.74842	.|-0.88	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Frizzled domain (5);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.76205|0.76205	0.3955|0.3955	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.47106	.|0.89	.|P	.|0.50754	.|0.649	T|T	0.77978|0.77978	-0.2384|-0.2384	6|10	0.87932|0.52906	D|T	0|0.07	.|.	14.7374|14.7374	0.69424|0.69424	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|148	.|Q9ULW2	.|FZD10_HUMAN	R|V	115|148	.|ENSP00000229030:M148V	ENSP00000438460:H115R|ENSP00000229030:M148V	H|M	+|+	2|1	0|0	FZD10|FZD10	129213882|129213882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.164000|7.164000	0.77533|0.77533	1.877000|1.877000	0.54381|0.54381	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.667	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				41	64	0	0	0	0.870114	0	41	64				
MYH10	4628	broad.mit.edu	37	17	8409751	8409751	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:8409751G>C	ENST00000269243.4	-	25	3316	c.3178C>G	c.(3178-3180)Ctc>Gtc	p.L1060V	MYH10_ENST00000360416.3_Missense_Mutation_p.L1091V|MYH10_ENST00000396239.1_Missense_Mutation_p.L1081V|MYH10_ENST00000379980.4_Missense_Mutation_p.L1076V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCCCGTCGAGTTTTCTTTTG	0.512																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3271-3273)Ctc>Gtc		myosin, heavy chain 10, non-muscle							146.0	127.0	134.0					17																	8409751		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409751G>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3178C>G	17.37:g.8409751G>C	ENSP00000269243:p.Leu1060Val					MYH10_ENST00000269243.4_Missense_Mutation_p.L1060V|MYH10_ENST00000396239.1_Missense_Mutation_p.L1081V|MYH10_ENST00000379980.4_Missense_Mutation_p.L1076V	p.L1091V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3409	-			1060					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3271C>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293441	0.60086	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.87	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.42245	1.32	0.58432	D	0.999996	B;B;B	0.26195	0.144;0.048;0.144	B;B;B	0.36808	0.117;0.233;0.117	T	0.80659	-0.1284	10	0.87932	D	0	.	13.42	0.60992	0.076:0.0:0.924:0.0	.	1069;1091;1060	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1060;1091;1081;1076	ENSP00000269243:L1060V;ENSP00000353590:L1091V;ENSP00000379539:L1081V;ENSP00000369315:L1076V	ENSP00000269243:L1060V	L	-	1	0	MYH10	8350476	1.000000	0.71417	0.954000	0.39281	0.792000	0.44763	7.766000	0.85320	1.402000	0.46780	0.563000	0.77884	CTC		0.512	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			84	154	0	0	0	0.870114	0	84	154				
PCDHGA7	56108	broad.mit.edu	37	5	140762925	140762925	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140762925G>A	ENST00000518325.1	+	1	459	c.459G>A	c.(457-459)ccG>ccA	p.P153P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	153	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTTTCCGTTAAGCGAGG	0.478																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(457-459)ccG>ccA									42.0	48.0	46.0					5																	140762925		1980	4162	6142	SO:0001819	synonymous_variant	56108							g.chr5:140762925G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.459G>A	5.37:g.140762925G>A						PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P153P	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	459	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.459G>A	CCDS54927.1																																																																																				0.478	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		4	94	0	0	0	0.150653	0	4	94				
MCRS1	10445	broad.mit.edu	37	12	49953240	49953240	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:49953240C>T	ENST00000550165.1	-	13	1348	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.R170H|MCRS1_ENST00000357123.4_Missense_Mutation_p.R374H|MCRS1_ENST00000343810.4_Missense_Mutation_p.R361H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	361					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTCACCTCACGCGAGCGCAT	0.602																																						ENST00000550165.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						c.(1081-1083)cGt>cAt		microspherule protein 1							67.0	67.0	67.0					12																	49953240		2203	4300	6503	SO:0001583	missense	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49953240C>T	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1082G>A	12.37:g.49953240C>T	ENSP00000448056:p.Arg361His					MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.R170H|MCRS1_ENST00000357123.4_Missense_Mutation_p.R374H|MCRS1_ENST00000343810.4_Missense_Mutation_p.R361H	p.R361H			Q96EZ8	MCRS1_HUMAN			13	1348	-			361					O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	c.1082G>A	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	C	37	5.980823	0.97168	.	.	ENSG00000187778	ENST00000551598;ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.54	5.54	0.83059	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	L	0.51422	1.61	0.49051	D	0.999746	D;D	0.89917	0.999;1.0	P;D	0.68353	0.899;0.957	D	0.93754	0.7061	10	0.66056	D	0.02	-5.6074	17.3382	0.87288	0.0:1.0:0.0:0.0	.	361;374	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	H	70;170;361;361;374	ENSP00000448947:R70H;ENSP00000444982:R170H;ENSP00000345358:R361H;ENSP00000448056:R361H;ENSP00000349640:R374H	ENSP00000345358:R361H	R	-	2	0	MCRS1	48239507	0.829000	0.29322	0.011000	0.14972	0.518000	0.34316	5.652000	0.67959	2.764000	0.94973	0.650000	0.86243	CGT		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		20	44	0	0	0	0.624587	0	20	44				
COL6A2	1292	broad.mit.edu	37	21	47532364	47532364	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:47532364T>C	ENST00000300527.4	+	3	691	c.587T>C	c.(586-588)cTg>cCg	p.L196P	COL6A2_ENST00000409416.1_Missense_Mutation_p.L196P|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000357838.4_Missense_Mutation_p.L196P|COL6A2_ENST00000310645.5_Missense_Mutation_p.L196P|COL6A2_ENST00000397763.1_Missense_Mutation_p.L196P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	196	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACCAGAACCTGAAGGAGCAG	0.706																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(586-588)cTg>cCg		collagen, type VI, alpha 2							18.0	25.0	23.0					21																	47532364		2188	4271	6459	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532364T>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.587T>C	21.37:g.47532364T>C	ENSP00000300527:p.Leu196Pro					COL6A2_ENST00000409416.1_Missense_Mutation_p.L196P|COL6A2_ENST00000357838.4_Missense_Mutation_p.L196P|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.L196P|COL6A2_ENST00000310645.5_Missense_Mutation_p.L196P	p.L196P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	691	+	Breast(49;0.245)		196			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.587T>C	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	9.895	1.205334	0.22205	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.34	1.61	0.23674	von Willebrand factor, type A (3);	0.456339	0.21826	N	0.068557	T	0.60209	0.2251	N	0.22421	0.69	0.29721	N	0.838662	B;B;B	0.22346	0.068;0.067;0.024	B;B;B	0.21360	0.034;0.028;0.023	T	0.53173	-0.8476	10	0.34782	T	0.22	-11.4546	7.5576	0.27833	0.139:0.0:0.1445:0.7165	.	196;196;196	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	P	196	ENSP00000300527:L196P;ENSP00000350497:L196P;ENSP00000312529:L196P;ENSP00000387115:L196P;ENSP00000380870:L196P	ENSP00000300527:L196P	L	+	2	0	COL6A2	46356792	0.190000	0.23276	0.349000	0.25694	0.951000	0.60555	2.002000	0.40835	0.603000	0.29913	0.383000	0.25322	CTG		0.706	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			16	20	0	0	0	0.479597	0	16	20				
ERAP2	64167	broad.mit.edu	37	5	96251400	96251400	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:96251400T>C	ENST00000437043.3	+	18	3377	c.2666T>C	c.(2665-2667)tTg>tCg	p.L889S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.L844S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	889					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGATTTGACTTGGGCTCATAT	0.294																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(2665-2667)tTg>tCg		endoplasmic reticulum aminopeptidase 2							142.0	145.0	144.0					5																	96251400		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96251400T>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2666T>C	5.37:g.96251400T>C	ENSP00000400376:p.Leu889Ser					CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.L844S	p.L889S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	18	3377	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	889					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.2666T>C	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294287	0.40594	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.04654	3.58;3.58	3.32	3.32	0.38043	.	0.246011	0.27526	N	0.018977	T	0.06645	0.0170	L	0.58583	1.82	0.80722	D	1	B;B	0.29188	0.198;0.236	B;B	0.37943	0.07;0.261	T	0.15378	-1.0439	10	0.08837	T	0.75	.	8.6711	0.34152	0.0:0.0:0.0:1.0	.	844;889	Q6P179-3;Q6P179	.;ERAP2_HUMAN	S	889;844	ENSP00000400376:L889S;ENSP00000369235:L844S	ENSP00000369235:L844S	L	+	2	0	ERAP2	96277156	0.885000	0.30320	0.997000	0.53966	0.549000	0.35272	1.092000	0.30927	1.480000	0.48289	0.377000	0.23210	TTG		0.294	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		49	272	0	0	0	0.870114	0	49	272				
MARK1	4139	broad.mit.edu	37	1	220808856	220808856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:220808856C>T	ENST00000366917.4	+	12	1527	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	MARK1_ENST00000402574.1_Missense_Mutation_p.R286C|MARK1_ENST00000366918.4_Missense_Mutation_p.R399C					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCAGCGGCGTTTCAGTGA	0.463																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(856-858)Cgt>Tgt		MAP/microtubule affinity-regulating kinase 1							73.0	69.0	70.0					1																	220808856		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220808856C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1261C>T	1.37:g.220808856C>T	ENSP00000355884:p.Arg421Cys					MARK1_ENST00000366918.4_Missense_Mutation_p.R399C|MARK1_ENST00000366917.4_Missense_Mutation_p.R421C	p.R286C	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	12	1858	+			421			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.856C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414215	0.83449	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.79247	-1.14;-1.0;-1.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.972;0.998;0.985;0.998	D	0.90036	0.4138	10	0.87932	D	0	.	15.0828	0.72127	0.1417:0.8583:0.0:0.0	.	421;286;421;399	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	C	286;399;421	ENSP00000386017:R286C;ENSP00000355885:R399C;ENSP00000355884:R421C	ENSP00000355884:R421C	R	+	1	0	MARK1	218875479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.707000	0.61852	2.813000	0.96785	0.561000	0.74099	CGT		0.463	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			34	72	0	0	0	0.788014	0	34	72				
SIL1	64374	broad.mit.edu	37	5	138456826	138456826	+	Missense_Mutation	SNP	T	T	C	rs185697854		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:138456826T>C	ENST00000394817.2	-	3	281	c.142A>G	c.(142-144)Acc>Gcc	p.T48A	SIL1_ENST00000265195.5_Missense_Mutation_p.T48A|SIL1_ENST00000509534.1_Missense_Mutation_p.T55A	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	48	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTCTTTGGTGCTGCTCTTC	0.527									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(142-144)Acc>Gcc		SIL1 nucleotide exchange factor							139.0	146.0	144.0					5																	138456826		2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138456826T>C	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.142A>G	5.37:g.138456826T>C	ENSP00000378294:p.Thr48Ala					SIL1_ENST00000509534.1_Missense_Mutation_p.T55A|SIL1_ENST00000265195.5_Missense_Mutation_p.T48A	p.T48A	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	281	-			48			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.142A>G	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.060009	0.36373	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639;ENST00000513453;ENST00000507002;ENST00000505830;ENST00000505353	T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.02;-0.01;-0.01;-0.01;-0.01	5.19	2.72	0.32119	.	0.615629	0.15867	N	0.240710	T	0.34948	0.0915	N	0.03324	-0.35	0.09310	N	1	B;B	0.22683	0.073;0.073	B;B	0.25291	0.059;0.059	T	0.31586	-0.9938	10	0.06236	T	0.91	-2.4987	6.1199	0.20148	0.0:0.0871:0.1695:0.7434	.	55;48	D6REA1;Q9H173	.;SIL1_HUMAN	A	48;48;27;55;48;48;58;58;48	ENSP00000378294:T48A;ENSP00000265195:T48A;ENSP00000426858:T55A;ENSP00000427371:T48A;ENSP00000424014:T48A;ENSP00000421890:T58A;ENSP00000426460:T58A;ENSP00000423662:T48A	ENSP00000265195:T48A	T	-	1	0	SIL1	138484725	0.526000	0.26298	0.337000	0.25536	0.988000	0.76386	0.920000	0.28705	0.967000	0.38186	0.459000	0.35465	ACC		0.527	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		69	141	0	0	0	0.870114	0	69	141				
IQCK	124152	broad.mit.edu	37	16	19800174	19800174	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:19800174T>A	ENST00000320394.6	+	8	1319	c.620T>A	c.(619-621)aTc>aAc	p.I207N	IQCK_ENST00000433597.2_Missense_Mutation_p.I119N|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.I207N|IQCK_ENST00000541926.1_Intron	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	207										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGGCCGCCAATCCCACTCTCG	0.483																																						ENST00000320394.6																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(619-621)aTc>aAc		IQ motif containing K							112.0	112.0	112.0					16																	19800174		2197	4300	6497	SO:0001583	missense	124152							g.chr16:19800174T>A	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.620T>A	16.37:g.19800174T>A	ENSP00000324901:p.Ile207Asn					IQCK_ENST00000541926.1_Intron|IQCK_ENST00000433597.2_Missense_Mutation_p.I119N|IQCK_ENST00000564186.1_Missense_Mutation_p.I207N|IQCK_ENST00000562762.1_3'UTR	p.I207N	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN			8	1319	+			207					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.620T>A	CCDS10580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.289674|4.289674	0.80914|0.80914	.|.	.|.	ENSG00000174628|ENSG00000174628	ENST00000320394;ENST00000433597|ENST00000308214	T;T|T	0.21361|0.20463	2.01;2.01|2.07	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.222217|.	0.31834|.	N|.	0.006997|.	T|T	0.36771|0.36771	0.0979|0.0979	M|M	0.64997|0.64997	1.995|1.995	0.40538|0.40538	D|D	0.980998|0.980998	D|.	0.67145|.	0.996|.	D|.	0.65874|.	0.939|.	T|T	0.07177|0.07177	-1.0786|-1.0786	9|6	.|.	.|.	.|.	-10.7645|-10.7645	14.3215|14.3215	0.66489|0.66489	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207|.	Q8N0W5|.	IQCK_HUMAN|.	N|K	207;119|163	ENSP00000324901:I207N;ENSP00000406013:I119N|ENSP00000309261:N163K	.|.	I|N	+|+	2|3	0|2	IQCK|IQCK	19707675|19707675	0.961000|0.961000	0.32948|0.32948	0.973000|0.973000	0.42090|0.42090	0.976000|0.976000	0.68499|0.68499	3.330000|3.330000	0.52068|0.52068	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.483	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		13	139	0	0	0	0.479597	0	13	139				
ACSL1	2180	broad.mit.edu	37	4	185697722	185697722	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:185697722T>C	ENST00000515030.1	-	7	997	c.672A>G	c.(670-672)atA>atG	p.I224M	ACSL1_ENST00000504900.1_Missense_Mutation_p.I224M|ACSL1_ENST00000437665.3_Missense_Mutation_p.I53M|ACSL1_ENST00000504342.1_Missense_Mutation_p.I224M|ACSL1_ENST00000281455.2_Missense_Mutation_p.I224M|ACSL1_ENST00000513317.1_Missense_Mutation_p.I224M|ACSL1_ENST00000507295.1_Missense_Mutation_p.I190M|ACSL1_ENST00000454703.2_Missense_Mutation_p.I53M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	224					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATGACAACTATGATTTTAA	0.488																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(670-672)atA>atG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						152.0	145.0	148.0					4																	185697722		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185697722T>C	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.672A>G	4.37:g.185697722T>C	ENSP00000422607:p.Ile224Met					ACSL1_ENST00000454703.2_Missense_Mutation_p.I53M|ACSL1_ENST00000437665.3_Missense_Mutation_p.I53M|ACSL1_ENST00000507295.1_Missense_Mutation_p.I190M|ACSL1_ENST00000504342.1_Missense_Mutation_p.I224M|ACSL1_ENST00000513317.1_Missense_Mutation_p.I224M|ACSL1_ENST00000281455.2_Missense_Mutation_p.I224M|ACSL1_ENST00000504900.1_Missense_Mutation_p.I224M	p.I224M			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	7	997	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	224					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.672A>G	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489389	0.64074	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.87	-11.7	0.00046	AMP-dependent synthetase/ligase (1);	0.137493	0.64402	D	0.000006	T	0.31734	0.0806	H	0.95079	3.62	0.28683	N	0.905029	P;P;P;P	0.50272	0.799;0.588;0.933;0.588	P;P;D;P	0.65773	0.582;0.626;0.938;0.626	T	0.23261	-1.0193	10	0.72032	D	0.01	-8.8536	5.7031	0.17893	0.2714:0.1201:0.4931:0.1153	.	190;224;224;224	E7EPM6;B7Z452;D6RER0;P33121	.;.;.;ACSL1_HUMAN	M	53;224;224;190;53;224;224;224	ENSP00000407165:I53M;ENSP00000422607:I224M;ENSP00000281455:I224M;ENSP00000426244:I190M;ENSP00000405687:I53M;ENSP00000425006:I224M;ENSP00000426150:I224M;ENSP00000424935:I224M	ENSP00000281455:I224M	I	-	3	3	ACSL1	185934716	0.063000	0.20901	0.000000	0.03702	0.912000	0.54170	-0.713000	0.05007	-1.626000	0.01552	0.533000	0.62120	ATA		0.488	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		56	43	0	0	0	0.870114	0	56	43				
ZNF777	27153	broad.mit.edu	37	7	149129497	149129497	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:149129497C>T	ENST00000247930.4	-	6	2189	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	622					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGGGTGACTTGGGACGCG	0.667																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1864-1866)aaG>aaA		zinc finger protein 777							84.0	98.0	93.0					7																	149129497		2130	4251	6381	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129497C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1866G>A	7.37:g.149129497C>T							p.K622K	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2189	-	Melanoma(164;0.165)		622					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1866G>A	CCDS43675.1																																																																																				0.667	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		43	72	0	0	0	0.870114	0	43	72				
COG2	22796	broad.mit.edu	37	1	230805234	230805234	+	Missense_Mutation	SNP	G	G	A	rs201839796		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:230805234G>A	ENST00000366669.4	+	7	842	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	COG2_ENST00000535166.1_Missense_Mutation_p.A127T|COG2_ENST00000534989.1_Missense_Mutation_p.A184T|COG2_ENST00000366668.3_Missense_Mutation_p.A243T	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	243					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GACACGGGACGCGGAGGCCTT	0.488																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(550-552)Gcg>Acg		component of oligomeric golgi complex 2							94.0	78.0	83.0					1																	230805234		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805234G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.727G>A	1.37:g.230805234G>A	ENSP00000355629:p.Ala243Thr					COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366668.3_Missense_Mutation_p.A243T|COG2_ENST00000366669.4_Missense_Mutation_p.A243T|COG2_ENST00000535166.1_Missense_Mutation_p.A127T	p.A184T			Q14746	COG2_HUMAN			7	885	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	243					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.550G>A	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698511	0.96802	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.56	5.56	0.83823	.	0.047507	0.85682	D	0.000000	T	0.58452	0.2123	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.939	T	0.55425	-0.8143	10	0.32370	T	0.25	-17.2375	19.5159	0.95165	0.0:0.0:1.0:0.0	.	243;243	Q86U99;Q14746	.;COG2_HUMAN	T	243;127;243;184	ENSP00000355629:A243T;ENSP00000445724:A127T;ENSP00000355628:A243T;ENSP00000440349:A184T	ENSP00000355628:A243T	A	+	1	0	COG2	228871857	1.000000	0.71417	0.286000	0.24833	0.952000	0.60782	9.588000	0.98232	2.621000	0.88768	0.655000	0.94253	GCG		0.488	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		39	77	0	0	0	0.847076	0	39	77				
MRPS22	56945	broad.mit.edu	37	3	139062900	139062900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:139062900G>A	ENST00000495075.1	+	3	464	c.32G>A	c.(31-33)tGg>tAg	p.W11*	MRPS22_ENST00000310776.4_Nonsense_Mutation_p.W11*|MRPS22_ENST00000465056.1_Nonsense_Mutation_p.W11*|MRPS22_ENST00000478464.1_5'Flank			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	11						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GTATTGCTGTGGAGCCTCTTG	0.592																																						ENST00000495075.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(31-33)tGg>tAg		mitochondrial ribosomal protein S22							54.0	54.0	54.0					3																	139062900		2203	4300	6503	SO:0001587	stop_gained	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139062900G>A	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.32G>A	3.37:g.139062900G>A	ENSP00000418008:p.Trp11*					MRPS22_ENST00000465056.1_Nonsense_Mutation_p.W11*|MRPS22_ENST00000310776.4_Nonsense_Mutation_p.W11*	p.W11*			P82650	RT22_HUMAN			3	464	+			11					Q9H3I1	Nonsense_Mutation	SNP	ENST00000495075.1	37	c.32G>A	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397357	0.96009	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373	.	.	.	4.01	0.917	0.19380	.	0.369990	0.21989	N	0.066189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.985	4.3433	0.11120	0.1118:0.0:0.4892:0.399	.	.	.	.	X	11;11;11;7	.	ENSP00000310785:W11X	W	+	2	0	MRPS22	140545590	0.144000	0.22641	0.000000	0.03702	0.002000	0.02628	2.620000	0.46410	0.459000	0.27016	0.591000	0.81541	TGG		0.592	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		23	39	0	0	0	0.693898	0	23	39				
RNASEL	6041	broad.mit.edu	37	1	182550456	182550456	+	Silent	SNP	G	G	A	rs183141948	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:182550456G>A	ENST00000367559.3	-	5	2062	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	RNASEL_ENST00000444138.1_Silent_p.S603S|RNASEL_ENST00000539397.1_Silent_p.S603S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	603	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTTGATGTCGGATTCATTTC	0.428													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15620	0.0		0.0	False		,,,				2504	0.0					ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1807-1809)tcC>tcT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)		G		0,4406		0,0,2203	256.0	239.0	244.0		1809	-10.8	0.5	1		244	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNASEL	NM_021133.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		603/742	182550456	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182550456G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1809C>T	1.37:g.182550456G>A						RNASEL_ENST00000539397.1_Silent_p.S603S|RNASEL_ENST00000444138.1_Silent_p.S603S	p.S603S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			5	2062	-			603			KEN.		Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.1809C>T	CCDS1347.1																																																																																				0.428	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		6	340	0	0	0	0.248553	0	6	340				
MYOM2	9172	broad.mit.edu	37	8	2077161	2077161	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:2077161A>G	ENST00000262113.4	+	32	3882	c.3741A>G	c.(3739-3741)atA>atG	p.I1247M	MYOM2_ENST00000523438.1_Missense_Mutation_p.I672M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1247					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGAAGGAATACGACTTCAGT	0.448																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3739-3741)atA>atG		myomesin 2							86.0	82.0	83.0					8																	2077161		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2077161A>G		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3741A>G	8.37:g.2077161A>G	ENSP00000262113:p.Ile1247Met					MYOM2_ENST00000523438.1_Missense_Mutation_p.I672M	p.I1247M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	32	3882	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1247					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.3741A>G	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	a	10.88	1.475467	0.26511	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.37235	1.21;1.21	5.6	-6.94	0.01633	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.77486	2.375	0.21355	N	0.999719	B	0.15141	0.012	B	0.27076	0.076	T	0.38090	-0.9677	10	0.56958	D	0.05	.	10.1963	0.43056	0.1677:0.5989:0.0:0.2334	.	1247	P54296	MYOM2_HUMAN	M	1247;672	ENSP00000262113:I1247M;ENSP00000428396:I672M	ENSP00000262113:I1247M	I	+	3	3	MYOM2	2064568	0.442000	0.25633	0.000000	0.03702	0.456000	0.32438	0.033000	0.13754	-1.158000	0.02811	-0.524000	0.04348	ATA		0.448	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		40	96	0	0	0	0.870114	0	40	96				
MADD	8567	broad.mit.edu	37	11	47305943	47305943	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:47305943C>G	ENST00000311027.5	+	12	2149	c.1984C>G	c.(1984-1986)Cat>Gat	p.H662D	MADD_ENST00000395336.3_Missense_Mutation_p.H662D|MADD_ENST00000395344.3_Missense_Mutation_p.H662D|MADD_ENST00000402799.1_Missense_Mutation_p.H662D|MADD_ENST00000406482.1_Missense_Mutation_p.H662D|MADD_ENST00000342922.4_Missense_Mutation_p.H662D|MADD_ENST00000402192.2_Missense_Mutation_p.H662D|MADD_ENST00000407859.3_Missense_Mutation_p.H662D|MADD_ENST00000349238.3_Missense_Mutation_p.H662D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCTCTGACACATGCAGCACT	0.582																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1984-1986)Cat>Gat		MAP-kinase activating death domain							79.0	82.0	81.0					11																	47305943		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47305943C>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1984C>G	11.37:g.47305943C>G	ENSP00000310933:p.His662Asp					MADD_ENST00000406482.1_Missense_Mutation_p.H662D|MADD_ENST00000395344.3_Missense_Mutation_p.H662D|MADD_ENST00000402799.1_Missense_Mutation_p.H662D|MADD_ENST00000402192.2_Missense_Mutation_p.H662D|MADD_ENST00000311027.5_Missense_Mutation_p.H662D|MADD_ENST00000349238.3_Missense_Mutation_p.H662D|MADD_ENST00000395336.3_Missense_Mutation_p.H662D|MADD_ENST00000407859.3_Missense_Mutation_p.H662D	p.H662D	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	12	2341	+			662						Missense_Mutation	SNP	ENST00000311027.5	37	c.1984C>G	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571025	0.86542	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05717	3.45;3.44;3.44;3.46;3.47;3.4;3.44;3.47;3.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.65815	0.99;0.99;0.995;0.994;0.994;0.994;0.995;0.994;0.991;0.99	P;D;D;P;P;D;D;D;D;D	0.83275	0.843;0.972;0.991;0.854;0.896;0.988;0.996;0.919;0.979;0.991	T	0.00020	-1.2351	10	0.66056	D	0.02	-17.3981	20.8794	0.99867	0.0:1.0:0.0:0.0	.	662;662;662;662;662;662;662;662;662;662	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	D	662	ENSP00000343902:H662D;ENSP00000385585:H662D;ENSP00000384435:H662D;ENSP00000304505:H662D;ENSP00000310933:H662D;ENSP00000384204:H662D;ENSP00000378753:H662D;ENSP00000378745:H662D;ENSP00000384287:H662D	ENSP00000310933:H662D	H	+	1	0	MADD	47262519	1.000000	0.71417	0.177000	0.23020	0.973000	0.67179	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	CAT		0.582	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			36	54	0	0	0	0.819951	0	36	54				
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						ENST00000395471.3																			1	Substitution - Missense(1)	p.V116I(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(346-348)Gta>Ata		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron	p.V116I			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1151	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		4	127	0	0	0	0.150653	0	4	127				
TRIT1	54802	broad.mit.edu	37	1	40307451	40307451	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:40307451C>A	ENST00000316891.5	-	11	1383	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	TRIT1_ENST00000537223.1_Missense_Mutation_p.G153W|TRIT1_ENST00000545233.1_Missense_Mutation_p.G211W|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Missense_Mutation_p.G75W|TRIT1_ENST00000372818.1_Missense_Mutation_p.G431W|TRIT1_ENST00000537440.1_Missense_Mutation_p.G153W|TRIT1_ENST00000441669.2_Missense_Mutation_p.G375W	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	457					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCATTCTGCCCTGGGGATCCC	0.473																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(1369-1371)Ggg>Tgg		tRNA isopentenyltransferase 1							317.0	303.0	308.0					1																	40307451		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40307451C>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1369G>T	1.37:g.40307451C>A	ENSP00000321810:p.Gly457Trp					TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Missense_Mutation_p.G375W|TRIT1_ENST00000537440.1_Missense_Mutation_p.G153W|TRIT1_ENST00000372818.1_Missense_Mutation_p.G431W|TRIT1_ENST00000545233.1_Missense_Mutation_p.G211W|TRIT1_ENST00000541099.1_Missense_Mutation_p.G75W|TRIT1_ENST00000537223.1_Missense_Mutation_p.G153W	p.G457W	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	1383	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	457					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.1369G>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727669	0.30593	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223;ENST00000541099	T;T	0.48522	0.83;0.81	5.93	2.89	0.33648	.	0.739611	0.12849	N	0.434113	T	0.49695	0.1572	N	0.24115	0.695	0.09310	N	0.999999	P;D;D;D	0.67145	0.89;0.973;0.996;0.99	P;P;P;P	0.61874	0.604;0.777;0.895;0.841	T	0.36625	-0.9740	10	0.87932	D	0	-0.6498	9.7927	0.40715	0.283:0.5806:0.1364:0.0	.	457;431;375;153	Q9H3H1;Q9H3H1-4;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.;.	W	431;375;369;457;431;350;211;153;153;75	ENSP00000321810:G457W;ENSP00000361905:G431W	ENSP00000046894:G431W	G	-	1	0	TRIT1	40080038	0.005000	0.15991	0.017000	0.16124	0.080000	0.17528	1.005000	0.29834	0.821000	0.34540	0.655000	0.94253	GGG		0.473	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		8	367	1	0	0.0381472	0.278610	0.038514	8	367				
NAV1	89796	broad.mit.edu	37	1	201779752	201779752	+	Missense_Mutation	SNP	G	G	A	rs369401084		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:201779752G>A	ENST00000367296.4	+	24	5083	c.4663G>A	c.(4663-4665)Gtc>Atc	p.V1555I	NAV1_ENST00000367295.1_Missense_Mutation_p.V1161I|NAV1_ENST00000367302.1_Missense_Mutation_p.V1508I|NAV1_ENST00000367297.4_Missense_Mutation_p.V1547I|NAV1_ENST00000367300.3_Missense_Mutation_p.V1495I|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.V1552I|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1555					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCGGCGCCTCGTCCTCTCGGG	0.622																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4663-4665)Gtc>Atc		neuron navigator 1		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	55.0	48.0	50.0		3481,4663	2.8	1.0	1		50	0,8600		0,0,4300	no	missense,missense	NAV1	NM_001167738.1,NM_020443.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1161/1484,1555/1878	201779752	1,13005	2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779752G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4663G>A	1.37:g.201779752G>A	ENSP00000356265:p.Val1555Ile					NAV1_ENST00000295624.6_Missense_Mutation_p.V1552I|NAV1_ENST00000367295.1_Missense_Mutation_p.V1161I|NAV1_ENST00000367300.3_Missense_Mutation_p.V1495I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.V1547I|NAV1_ENST00000367302.1_Missense_Mutation_p.V1508I	p.V1555I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			24	5083	+			1555					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.4663G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551016	0.13374	2.27E-4	0.0	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.85	2.83	0.33086	.	0.222920	0.35805	N	0.002976	T	0.59851	0.2224	N	0.01874	-0.695	0.39738	D	0.971703	B;B	0.18310	0.027;0.003	B;B	0.14578	0.011;0.006	T	0.58470	-0.7631	10	0.02654	T	1	-28.1902	4.4719	0.11717	0.4304:0.0:0.5696:0.0	.	1161;1552	Q8NEY1-5;Q8NEY1-3	.;.	I	1508;1555;1552;1547;1495;1161	ENSP00000356271:V1508I;ENSP00000356265:V1555I;ENSP00000295624:V1552I;ENSP00000356266:V1547I;ENSP00000356269:V1495I;ENSP00000356264:V1161I	ENSP00000295624:V1552I	V	+	1	0	NAV1	200046375	0.995000	0.38212	0.988000	0.46212	0.995000	0.86356	2.691000	0.47010	1.253000	0.44018	0.585000	0.79938	GTC		0.622	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		4	36	0	0	0	0.150653	0	4	36				
COL4A3BP	10087	broad.mit.edu	37	5	74754945	74754945	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:74754945C>T	ENST00000405807.4	-	3	714	c.293G>A	c.(292-294)cGt>cAt	p.R98H	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R98H|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.R226H	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCCTGAGCACGAAGATACCA	0.388																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(676-678)cGt>cAt		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							201.0	167.0	178.0					5																	74754945		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74754945C>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.293G>A	5.37:g.74754945C>T	ENSP00000383996:p.Arg98His					COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R98H|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R98H	p.R226H	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	4	970	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	98					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.677G>A	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406290	0.96051	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.13089	2.62;2.62;2.62	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.55263	-0.8168	10	0.87932	D	0	-0.0844	18.9443	0.92616	0.0:1.0:0.0:0.0	.	98;226;98	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	H	98;226;98	ENSP00000383996:R98H;ENSP00000369862:R226H;ENSP00000261415:R98H	ENSP00000261415:R98H	R	-	2	0	COL4A3BP	74790701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	2.562000	0.86427	0.655000	0.94253	CGT		0.388	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		65	109	0	0	0	0.870114	0	65	109				
ZMYND12	84217	broad.mit.edu	37	1	42914182	42914182	+	Missense_Mutation	SNP	A	A	G	rs144825054		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:42914182A>G	ENST00000372565.3	-	3	649	c.380T>C	c.(379-381)gTa>gCa	p.V127A	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	127						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACAAGCTCTACGGAGCTCAG	0.522																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(379-381)gTa>gCa		zinc finger, MYND-type containing 12		A	,ALA/VAL	0,4406		0,0,2203	77.0	69.0	72.0		,380	5.6	1.0	1	dbSNP_134	72	4,8596	3.0+/-9.4	0,4,4296	no	intron,missense	ZMYND12	NM_001146192.1,NM_032257.4	,64	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	,probably-damaging	,127/366	42914182	4,13002	2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42914182A>G	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.380T>C	1.37:g.42914182A>G	ENSP00000361646:p.Val127Ala					ZMYND12_ENST00000433602.2_Intron	p.V127A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			3	649	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	127					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.380T>C	CCDS467.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470699	0.43942	0.0	4.65E-4	ENSG00000066185	ENST00000372565	T	0.62941	-0.01	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.63428	1.95	0.80722	D	1	P	0.45348	0.856	B	0.34991	0.193	T	0.56607	-0.7951	10	0.06236	T	0.91	-14.6936	13.6973	0.62587	1.0:0.0:0.0:0.0	.	127	Q9H0C1	ZMY12_HUMAN	A	127	ENSP00000361646:V127A	ENSP00000361646:V127A	V	-	2	0	ZMYND12	42686769	0.555000	0.26530	0.981000	0.43875	0.312000	0.27988	4.651000	0.61447	2.118000	0.64928	0.459000	0.35465	GTA		0.522	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		20	21	0	0	0	0.557998	0	20	21				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	54	0	0	0	0.184627	0	4	54				
KRTAP19-2	337969	broad.mit.edu	37	21	31859576	31859576	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:31859576C>A	ENST00000334055.3	-	1	179	c.92G>T	c.(91-93)aGa>aTa	p.R31I		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	31						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCACAGCCTCTGTGGCCACA	0.512																																						ENST00000334055.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(91-93)aGa>aTa		keratin associated protein 19-2							143.0	139.0	140.0					21																	31859576		2203	4300	6503	SO:0001583	missense	337969					intermediate filament		g.chr21:31859576C>A	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.92G>T	21.37:g.31859576C>A	ENSP00000335660:p.Arg31Ile						p.R31I	NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN			1	179	-			31						Missense_Mutation	SNP	ENST00000334055.3	37	c.92G>T	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	9.572	1.121272	0.20877	.	.	ENSG00000186965	ENST00000334055	T	0.10668	2.85	3.93	3.93	0.45458	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	1	D	0.55385	0.971	P	0.52109	0.69	T	0.03898	-1.0994	8	0.87932	D	0	.	11.6309	0.51173	0.0:1.0:0.0:0.0	.	31	Q3LHN2	KR192_HUMAN	I	31	ENSP00000335660:R31I	ENSP00000335660:R31I	R	-	2	0	KRTAP19-2	30781447	0.044000	0.20184	0.006000	0.13384	0.029000	0.11900	1.860000	0.39428	2.184000	0.69523	0.591000	0.81541	AGA		0.512	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			39	86	1	0	1.15505e-17	0.847076	1.2471e-17	39	86				
TTN	7273	broad.mit.edu	37	2	179400235	179400235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:179400235G>A	ENST00000591111.1	-	308	96408	c.96184C>T	c.(96184-96186)Cga>Tga	p.R32062*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R31135*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R24763*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R24638*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R24830*|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R33703*			Q8WZ42	TITIN_HUMAN	titin	32062	Fibronectin type-III 132. {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)			ACAGAATCTCGTGAGACATCA	0.438																																						ENST00000589042.1																			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.(101107-101109)Cga>Tga		titin							84.0	88.0	87.0					2																	179400235		2045	4207	6252	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400235G>A	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.96184C>T	2.37:g.179400235G>A	ENSP00000465570:p.Arg32062*					TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R24763*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R31135*|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R24638*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R32062*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R24830*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R33703*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	101331	-			32062			Ig-like 148.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.101107C>T		.	.	.	.	.	.	.	.	.	.	G	70	111.293840	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.59	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4089	0.49915	0.0:0.0:0.4406:0.5594	.	.	.	.	X	31135;24638;24830;24763;24635	.	ENSP00000340554:R24830X	R	-	1	2	TTN	179108481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.551000	0.45820	1.419000	0.47118	0.557000	0.71058	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	73	0	0	0	0.740014	0	32	73				
RELN	5649	broad.mit.edu	37	7	103126801	103126801	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:103126801C>T	ENST00000428762.1	-	61	9985	c.9826G>A	c.(9826-9828)Gca>Aca	p.A3276T	RELN_ENST00000343529.5_Missense_Mutation_p.A3276T|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.A3276T|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'Flank	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3276					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGACTCTTGCGGACTCAAAA	0.498																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9826-9828)Gca>Aca		reelin							81.0	80.0	80.0					7																	103126801		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103126801C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9826G>A	7.37:g.103126801C>T	ENSP00000392423:p.Ala3276Thr					RELN_ENST00000343529.5_Missense_Mutation_p.A3276T|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.A3276T	p.A3276T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	61	9985	-			3276					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9826G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701134	0.68501	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	5.86	5.86	0.93980	.	0.308306	0.35838	N	0.002953	T	0.16128	0.0388	N	0.14661	0.345	0.33828	D	0.629875	B;B	0.27997	0.148;0.197	B;B	0.24848	0.056;0.04	T	0.10497	-1.0627	10	0.38643	T	0.18	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	3276;3276	P78509-2;P78509	.;RELN_HUMAN	T	3276;3276;3276;793;3276	ENSP00000392423:A3276T;ENSP00000345694:A3276T;ENSP00000388446:A3276T	ENSP00000345694:A3276T	A	-	1	0	RELN	102914037	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	5.765000	0.68834	2.775000	0.95449	0.655000	0.94253	GCA		0.498	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	171	0	0	0	0.184627	0	4	171				
PDIA2	64714	broad.mit.edu	37	16	336667	336667	+	Missense_Mutation	SNP	G	G	A	rs371087103		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:336667G>A	ENST00000219406.6	+	9	1372	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	PDIA2_ENST00000404312.1_Missense_Mutation_p.E449K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	452	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACGGCCAACGAGCTGGATGC	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		17217	0.0		0.0	False		,,,				2504	0.001					ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1354-1356)Gag>Aag		protein disulfide isomerase family A, member 2							43.0	46.0	45.0					16																	336667		2158	4240	6398	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:336667G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1354G>A	16.37:g.336667G>A	ENSP00000219406:p.Glu452Lys					PDIA2_ENST00000404312.1_Missense_Mutation_p.E449K	p.E452K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			9	1372	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	452			Thioredoxin 2.		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.1354G>A	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	19.96	3.922965	0.73213	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.17370	2.28;2.28;3.97	4.58	4.58	0.56647	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.058122	0.64402	D	0.000002	T	0.37019	0.0988	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17745	-1.0359	10	0.87932	D	0	.	16.156	0.81666	0.0:0.0:1.0:0.0	.	452	Q13087	PDIA2_HUMAN	K	452;421;449;81	ENSP00000219406:E452K;ENSP00000384410:E449K;ENSP00000405081:E81K	ENSP00000219406:E452K	E	+	1	0	PDIA2	276668	1.000000	0.71417	0.974000	0.42286	0.184000	0.23303	7.761000	0.85260	2.116000	0.64780	0.486000	0.48141	GAG		0.612	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		21	34	0	0	0	0.667858	0	21	34				
PRSS33	260429	broad.mit.edu	37	16	2834653	2834653	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:2834653T>C	ENST00000293851.5	-	6	994	c.835A>G	c.(835-837)Agc>Ggc	p.S279G	PRSS33_ENST00000570702.1_Missense_Mutation_p.S279G|PRSS33_ENST00000576886.1_3'UTR	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						CATTAGAAGCTGACGCGAGCC	0.627																																					NSCLC(194;489 2153 16702 19171 27758)	ENST00000293851.5																			0				prostate(1)	1						c.(835-837)Agc>Ggc		protease, serine, 33							20.0	23.0	22.0					16																	2834653		1998	4183	6181	SO:0001583	missense	260429				proteolysis		serine-type endopeptidase activity	g.chr16:2834653T>C	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"""Serine peptidases / Serine peptidases"""	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.835A>G	16.37:g.2834653T>C	ENSP00000293851:p.Ser279Gly					PRSS33_ENST00000570702.1_Missense_Mutation_p.S279G|PRSS33_ENST00000576886.1_3'UTR	p.S279G	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN			6	994	-			279			Peptidase S1.		A6NNQ3|Q8N171	Missense_Mutation	SNP	ENST00000293851.5	37	c.835A>G	CCDS42110.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284598	0.40394	.	.	ENSG00000103355	ENST00000293851	D	0.88586	-2.4	4.7	2.41	0.29592	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.79493	0.4455	N	0.26092	0.79	0.22693	N	0.998842	P	0.40431	0.717	B	0.35813	0.211	T	0.70263	-0.4920	9	0.72032	D	0.01	.	6.5651	0.22507	0.0:0.2048:0.0:0.7952	.	279	Q8NF86	PRS33_HUMAN	G	279	ENSP00000293851:S279G	ENSP00000293851:S279G	S	-	1	0	PRSS33	2774654	0.649000	0.27322	0.521000	0.27850	0.018000	0.09664	0.038000	0.13862	0.676000	0.31285	0.449000	0.29647	AGC		0.627	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1	NM_152891		3	9	0	0	0	0.115264	0	3	9				
PCDHGA3	56112	broad.mit.edu	37	5	140725001	140725001	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140725001A>T	ENST00000253812.6	+	1	1401	c.1401A>T	c.(1399-1401)agA>agT	p.R467S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCCAGAGGAGCCTCCA	0.537																																						ENST00000253812.6																			0				breast(1)	1						c.(1399-1401)agA>agT									117.0	132.0	127.0					5																	140725001		2125	4271	6396	SO:0001583	missense	56112							g.chr5:140725001A>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1401A>T	5.37:g.140725001A>T	ENSP00000253812:p.Arg467Ser					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R467S	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1401	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1401A>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.741827	0.49151	.	.	ENSG00000254245	ENST00000253812	T	0.49139	0.79	5.36	1.78E-5	0.14040	Cadherin (3);Cadherin-like (1);	0.000000	0.36167	U	0.002754	T	0.48554	0.1506	L	0.47190	1.495	0.27358	N	0.956048	D;P	0.59357	0.985;0.848	P;P	0.58721	0.844;0.669	T	0.41197	-0.9522	10	0.30854	T	0.27	.	7.6172	0.28165	0.2904:0.0:0.5705:0.1391	.	467;467	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	S	467	ENSP00000253812:R467S	ENSP00000253812:R467S	R	+	3	2	PCDHGA3	140705185	0.000000	0.05858	0.988000	0.46212	0.992000	0.81027	-0.492000	0.06467	0.052000	0.16007	0.460000	0.39030	AGA		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		90	160	0	0	0	0.870114	0	90	160				
MOB3C	148932	broad.mit.edu	37	1	47078581	47078581	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:47078581C>T	ENST00000319928.3	-	2	643	c.413G>A	c.(412-414)cGt>cAt	p.R138H	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_Missense_Mutation_p.R161H|MOB3C_ENST00000271139.8_Missense_Mutation_p.R190H|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	138							metal ion binding (GO:0046872)	p.R190H(1)									CTCACCAACACGCGTGGGAAA	0.577																																						ENST00000371940.1																			1	Substitution - Missense(1)	p.R190H(1)	large_intestine(1)								c.(481-483)cGt>cAt		MOB kinase activator 3C							34.0	38.0	37.0					1																	47078581		2183	4291	6474	SO:0001583	missense	148932						metal ion binding	g.chr1:47078581C>T	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.413G>A	1.37:g.47078581C>T	ENSP00000315113:p.Arg138His					MOB3C_ENST00000319928.3_Missense_Mutation_p.R138H|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.R190H	p.R161H			Q70IA8	MOL2C_HUMAN			1	3556	-			138					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.482G>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758726	0.69763	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.26	4.14	0.48551	.	0.048730	0.85682	D	0.000000	T	0.57636	0.2067	L	0.56124	1.755	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.60052	-0.7338	9	0.59425	D	0.04	-15.8032	13.8511	0.63496	0.0:0.9122:0.0:0.0878	.	138	Q70IA8	MOB3C_HUMAN	H	138;190;161	.	ENSP00000271139:R190H	R	-	2	0	MOBKL2C	46851168	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	6.056000	0.71111	2.462000	0.83206	0.557000	0.71058	CGT		0.577	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		12	9	0	0	0	0.435327	0	12	9				
GPR107	57720	broad.mit.edu	37	9	132897302	132897302	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:132897302A>G	ENST00000372406.1	+	20	2213		c.e20-1		GPR107_ENST00000372410.3_Splice_Site|GPR107_ENST00000347136.6_Splice_Site	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCCTTGTTCAGTGTGACAAC	0.498																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.e20-1		G protein-coupled receptor 107							106.0	92.0	97.0					9																	132897302		2203	4300	6503	SO:0001630	splice_region_variant	57720					integral to membrane		g.chr9:132897302A>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1707-1A>G	9.37:g.132897302A>G						GPR107_ENST00000372410.3_Splice_Site|GPR107_ENST00000347136.6_Splice_Site		NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			20	2213	+		Ovarian(14;0.000531)						A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	ENST00000372406.1	37		CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641965	0.29157	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7113	0.57092	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR107	131937123	1.000000	0.71417	0.801000	0.32222	0.103000	0.19146	6.672000	0.74477	2.018000	0.59344	0.379000	0.24179	.		0.498	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		Intron	10	10	0	0	0	0.335167	0	10	10				
BAG6	7917	broad.mit.edu	37	6	31615405	31615405	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:31615405C>T	ENST00000375964.6	-	7	1082	c.769G>A	c.(769-771)Gcg>Acg	p.A257T	BAG6_ENST00000439687.2_Missense_Mutation_p.A251T|BAG6_ENST00000211379.5_Missense_Mutation_p.A251T|BAG6_ENST00000375976.4_Missense_Mutation_p.A251T|BAG6_ENST00000404765.2_Missense_Mutation_p.A251T|BAG6_ENST00000362049.6_Missense_Mutation_p.A251T	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	257	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTGGGCCCGCTGGGGCTGGG	0.592																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(751-753)Gcg>Acg		BCL2-associated athanogene 6							89.0	112.0	104.0					6																	31615405		1510	2708	4218	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31615405C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.769G>A	6.37:g.31615405C>T	ENSP00000365131:p.Ala257Thr					BAG6_ENST00000211379.5_Missense_Mutation_p.A251T|BAG6_ENST00000439687.2_Missense_Mutation_p.A251T|BAG6_ENST00000375976.4_Missense_Mutation_p.A251T|BAG6_ENST00000375964.6_Missense_Mutation_p.A257T|BAG6_ENST00000362049.6_Missense_Mutation_p.A251T	p.A251T			P46379	BAG6_HUMAN			7	1040	-			257			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.751G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346378	0.24426	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080;ENST00000434444;ENST00000452994;ENST00000456622;ENST00000428326;ENST00000451898;ENST00000433828;ENST00000424480	T;T;T;T;T;T;T	0.44482	1.5;1.44;1.5;1.5;0.92;1.51;0.93	5.97	2.16	0.27623	.	0.646184	0.15161	N	0.277141	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	0.999995	B;B;B;B;B	0.15930	0.008;0.015;0.001;0.003;0.005	B;B;B;B;B	0.13407	0.004;0.009;0.001;0.004;0.009	T	0.39702	-0.9601	10	0.13853	T	0.58	.	4.9706	0.14113	0.1458:0.6196:0.0:0.2346	.	251;251;251;257;251	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	T	251;257;251;251;251;251;251;251;233;251;233;251;233;251;251	ENSP00000365143:A251T;ENSP00000365131:A257T;ENSP00000211379:A251T;ENSP00000384494:A251T;ENSP00000402856:A251T;ENSP00000354875:A251T;ENSP00000397978:A251T	ENSP00000211379:A251T	A	-	1	0	BAG6	31723384	0.041000	0.20044	0.119000	0.21687	0.884000	0.51177	0.173000	0.16724	0.112000	0.17975	-0.150000	0.13652	GCG		0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		97	134	0	0	0	0.870114	0	97	134				
DCUN1D3	123879	broad.mit.edu	37	16	20871211	20871211	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:20871211A>G	ENST00000324344.4	-	3	1197	c.912T>C	c.(910-912)acT>acC	p.T304T	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.T304T	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	304					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGAGCCACTAAGTCTGCTCCT	0.542																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(910-912)acT>acC		DCN1, defective in cullin neddylation 1, domain containing 3							55.0	48.0	51.0					16																	20871211		2201	4300	6501	SO:0001819	synonymous_variant	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871211A>G	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.912T>C	16.37:g.20871211A>G						ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.T304T	p.T304T	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	1197	-			304					B3KVY4	Silent	SNP	ENST00000324344.4	37	c.912T>C	CCDS10592.1																																																																																				0.542	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		15	25	0	0	0	0.479597	0	15	25				
ZNF319	57567	broad.mit.edu	37	16	58031166	58031166	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:58031166C>T	ENST00000299237.2	-	2	1626	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTGTGTGTGCGCTCATGCTG	0.682																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1003-1005)cGc>cAc		zinc finger protein 319							38.0	36.0	36.0					16																	58031166		2198	4299	6497	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031166C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1004G>A	16.37:g.58031166C>T	ENSP00000299237:p.Arg335His						p.R335H	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1626	-			335					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1004G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152917	0.57259	.	.	ENSG00000166188	ENST00000299237	T	0.25749	1.78	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.58624	-0.7604	10	0.87932	D	0	-43.1315	17.7991	0.88581	0.0:1.0:0.0:0.0	.	335	Q9P2F9	ZN319_HUMAN	H	335	ENSP00000299237:R335H	ENSP00000299237:R335H	R	-	2	0	ZNF319	56588667	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.805000	0.86005	2.456000	0.83038	0.655000	0.94253	CGC		0.682	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			5	23	0	0	0	0.307466	0	5	23				
ZNF433	163059	broad.mit.edu	37	19	12126007	12126007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:12126007C>A	ENST00000344980.6	-	4	1845	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Nonsense_Mutation_p.E524*|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TAAGGTTTCTCTCCAGTGTGA	0.458																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1570-1572)Gag>Tag		zinc finger protein 433							99.0	103.0	102.0					19																	12126007		2202	4300	6502	SO:0001587	stop_gained	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126007C>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1675G>T	19.37:g.12126007C>A	ENSP00000339767:p.Glu559*					ZNF433_ENST00000344980.6_Nonsense_Mutation_p.E559*|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	p.E524*			Q8N7K0	ZN433_HUMAN			5	1861	-			559					Q86VX3	Nonsense_Mutation	SNP	ENST00000344980.6	37	c.1570G>T	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	38	7.099001	0.98063	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.3795	0.44104	0.0:1.0:0.0:0.0	.	.	.	.	X	524;559	.	ENSP00000339767:E559X	E	-	1	0	ZNF433	11987007	0.850000	0.29656	0.482000	0.27366	0.914000	0.54420	3.203000	0.51075	1.062000	0.40625	0.298000	0.19748	GAG		0.458	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		70	142	1	0	2.23399e-28	0.870114	2.46591e-28	70	142				
TRIP12	9320	broad.mit.edu	37	2	230654396	230654396	+	Silent	SNP	C	C	T	rs146874504	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:230654396C>T	ENST00000283943.5	-	30	4579	c.4401G>A	c.(4399-4401)ccG>ccA	p.P1467P	TRIP12_ENST00000389044.4_Silent_p.P1515P|TRIP12_ENST00000389045.3_Silent_p.P1197P	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1467					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATCTAATGACGGGTCTTCAA	0.358																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4399-4401)ccG>ccA		thyroid hormone receptor interactor 12		C		2,4404	4.2+/-10.8	0,2,2201	182.0	176.0	178.0		4401	-10.6	0.9	2	dbSNP_134	178	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TRIP12	NM_004238.1		0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384		1467/1993	230654396	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230654396C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4401G>A	2.37:g.230654396C>T						TRIP12_ENST00000389044.4_Silent_p.P1515P|TRIP12_ENST00000389045.3_Silent_p.P1197P	p.P1467P	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	30	4579	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1467					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.4401G>A	CCDS33391.1																																																																																				0.358	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		103	181	0	0	0	0.870114	0	103	181				
C1QTNF5	114902	broad.mit.edu	37	11	119210050	119210050	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:119210050G>C	ENST00000528368.1	-	3	954	c.723C>G	c.(721-723)gtC>gtG	p.V241V	MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000445041.2_Silent_p.V241V|MFRP_ENST00000555262.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	241						collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACTAAGCAAAGACTGGGGAGC	0.567																																						ENST00000445041.2																			0				endometrium(1)|lung(2)	3						c.(721-723)gtC>gtG		C1q and tumor necrosis factor related protein 5							85.0	82.0	83.0					11																	119210050		2199	4295	6494	SO:0001819	synonymous_variant	114902				embryo development	integral to membrane		g.chr11:119210050G>C	AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.723C>G	11.37:g.119210050G>C						C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000528368.1_Silent_p.V241V|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR	p.V241V	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	3518	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	0			CUB 1.		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Silent	SNP	ENST00000528368.1	37	c.723C>G	CCDS8420.1																																																																																				0.567	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645		28	54	0	0	0	0.760397	0	28	54				
PLA2G4D	283748	broad.mit.edu	37	15	42364521	42364521	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:42364521A>T	ENST00000290472.3	-	14	1481	c.1387T>A	c.(1387-1389)Ttg>Atg	p.L463M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	463	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TTGAGGCTCAAGTAGAGGGGC	0.567																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1387-1389)Ttg>Atg		phospholipase A2, group IVD (cytosolic)							190.0	180.0	184.0					15																	42364521		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364521A>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1387T>A	15.37:g.42364521A>T	ENSP00000290472:p.Leu463Met						p.L463M	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	14	1481	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	463			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1387T>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.783600	0.70222	.	.	ENSG00000159337	ENST00000290472	T	0.12039	2.72	5.19	0.0231	0.14135	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.227300	0.29451	N	0.012107	T	0.32164	0.0820	M	0.77103	2.36	0.32844	D	0.505779	D	0.89917	1.0	D	0.76071	0.987	T	0.38693	-0.9649	10	0.49607	T	0.09	-10.5939	9.9536	0.41653	0.5666:0.0:0.4334:0.0	.	463	Q86XP0	PA24D_HUMAN	M	463	ENSP00000290472:L463M	ENSP00000290472:L463M	L	-	1	2	PLA2G4D	40151813	0.017000	0.18338	0.998000	0.56505	0.957000	0.61999	-0.988000	0.03739	-0.009000	0.14296	-0.266000	0.10368	TTG		0.567	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		81	183	0	0	0	0.870114	0	81	183				
TRGV2	6974	broad.mit.edu	37	7	38402598	38402598	+	RNA	SNP	T	T	C	rs3956758		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:38402598T>C	ENST00000426402.2	-	0	410									T cell receptor gamma variable 2																		CAACACAACCTTGGAGTTGTA	0.458																																						ENST00000426402.2																			0																				107.0	98.0	101.0					7																	38402598		1922	4145	6067			6974							g.chr7:38402598T>C	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402598T>C														0	410	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.458	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		22	123	0	0	0	0.760397	0	22	123				
RNF217	154214	broad.mit.edu	37	6	125397823	125397823	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:125397823A>G	ENST00000521654.2	+	4	1302	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	RNF217_ENST00000275184.6_Silent_p.E78E|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.E199E|RNF217_ENST00000359704.2_Silent_p.E142E			Q8TC41	RN217_HUMAN	ring finger protein 217	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGCGAACTGAAGGATGTGACC	0.408																																						ENST00000521654.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(1300-1302)gaA>gaG		ring finger protein 217							127.0	111.0	116.0					6																	125397823		2203	4300	6503	SO:0001819	synonymous_variant	154214				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr6:125397823A>G	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1302A>G	6.37:g.125397823A>G						RNF217_ENST00000275184.6_Silent_p.E78E|RNF217_ENST00000359704.2_Silent_p.E142E|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.E199E	p.E434E			Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	4	1302	+			142					H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37	c.1302A>G																																																																																					0.408	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		45	103	0	0	0	0.870114	0	45	103				
DNAH17	8632	broad.mit.edu	37	17	76430163	76430163	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76430163C>A	ENST00000585328.1	-	75	12281	c.12157G>T	c.(12157-12159)Gac>Tac	p.D4053Y	DNAH17_ENST00000389840.5_Missense_Mutation_p.D4052Y|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4052	AAA 6. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGGTGAGGTCCCCGTTGTTG	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(12154-12156)Gac>Tac		dynein, axonemal, heavy chain 17							262.0	214.0	230.0					17																	76430163		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76430163C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12157G>T	17.37:g.76430163C>A	ENSP00000465516:p.Asp4053Tyr					DNAH17_ENST00000585328.1_Missense_Mutation_p.D4053Y|DNAH17_ENST00000586052.1_5'UTR	p.D4052Y					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		75	12278	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.12154G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.175587	0.94807	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.34859	1.34	5.64	5.64	0.86602	.	0.199132	0.35013	N	0.003510	T	0.80904	0.4713	H	0.99887	4.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.90189	0.4248	10	0.87932	D	0	.	19.7564	0.96294	0.0:1.0:0.0:0.0	.	4053	E7EUM8	.	Y	4053;4052	ENSP00000374490:D4052Y	ENSP00000300671:D4053Y	D	-	1	0	DNAH17	73941758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.683000	0.91414	0.555000	0.69702	GAC		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	175	1	0	0.014758	0.184627	0.0149538	5	175				
RBM42	79171	broad.mit.edu	37	19	36128233	36128233	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36128233C>T	ENST00000262633.4	+	9	1414	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	RBM42_ENST00000588161.1_Missense_Mutation_p.R407C|RBM42_ENST00000586618.1_Missense_Mutation_p.R141C|RBM42_ENST00000589871.1_Missense_Mutation_p.R415C|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.R383C|RBM42_ENST00000360475.4_Missense_Mutation_p.R408C	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	437	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACTACGTGCGCGCCATGCG	0.632																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1309-1311)Cgc>Tgc		RNA binding motif protein 42							97.0	78.0	84.0					19																	36128233		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36128233C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1309C>T	19.37:g.36128233C>T	ENSP00000262633:p.Arg437Cys					RBM42_ENST00000588161.1_Missense_Mutation_p.R407C|RBM42_ENST00000360475.4_Missense_Mutation_p.R408C|RBM42_ENST00000586618.1_Missense_Mutation_p.R141C|RBM42_ENST00000589871.1_Missense_Mutation_p.R415C|RBM42_ENST00000592202.1_Missense_Mutation_p.R383C|RBM42_ENST00000589559.1_Intron	p.R437C	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		9	1414	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		437			Necessary for interaction with HNRNPK (By similarity).|RRM.		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.1309C>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067102	0.55539	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.17691	2.26;2.26	5.78	3.56	0.40772	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.995	D;P;D;P	0.74674	0.981;0.656;0.984;0.832	T	0.25745	-1.0123	10	0.87932	D	0	-5.743	9.1981	0.37240	0.2834:0.5771:0.1395:0.0	.	403;408;407;437	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	C	437;408	ENSP00000262633:R437C;ENSP00000353663:R408C	ENSP00000262633:R437C	R	+	1	0	RBM42	40820073	0.978000	0.34361	0.878000	0.34440	0.972000	0.66771	1.454000	0.35178	1.431000	0.47355	0.655000	0.94253	CGC		0.632	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		21	49	0	0	0	0.667858	0	21	49				
MYH8	4626	broad.mit.edu	37	17	10304593	10304593	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:10304593T>C	ENST00000403437.2	-	24	3201	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1036					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTGCTTACATCATCCACTTG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e24+1		myosin, heavy chain 8, skeletal muscle, perinatal							153.0	150.0	151.0					17																	10304593		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304593T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3108+1A>G	17.37:g.10304593T>C						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.D1036_splice	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			24	3201	-			1036					Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.3108_splice	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005344	0.74932	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.92647	-3.08	5.64	5.64	0.86602	.	0.000000	0.42964	U	0.000630	D	0.96445	0.8840	H	0.94582	3.555	0.80722	D	1	D	0.62365	0.991	P	0.55871	0.786	D	0.97371	0.9976	10	0.72032	D	0.01	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	1036	P13535	MYH8_HUMAN	G	1036	ENSP00000384330:D1036G	ENSP00000252173:D1036G	D	-	2	0	MYH8	10245318	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.585000	0.82584	2.367000	0.80283	0.528000	0.53228	GAT		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	8	324	0	0	0	0.307466	0	8	324				
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	rs143032407	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGTGCCATGCGGGACGCGTG	0.597																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4645-4647)cGc>cAc		T-cell lymphoma invasion and metastasis 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80.0	72.0	75.0		4646	4.9	1.0	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1549/1592	32492816	2,13004	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492816C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4646G>A	21.37:g.32492816C>T	ENSP00000286827:p.Arg1549His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	p.R1549H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	5117	-			1549					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4646G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	TIAM1	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC		0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		39	75	0	0	0	0.847076	0	39	75				
MALAT1	378938	broad.mit.edu	37	11	65272262	65272262	+	lincRNA	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:65272262C>A	ENST00000534336.1	+	0	7030					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTCTCTCTCCCCTCCCTTGGT	0.418																																						ENST00000534336.1																			0																				84.0	82.0	82.0					11																	65272262		874	1988	2862			378938							g.chr11:65272262C>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272262C>A								NR_002819.2						0	7030	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.418	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		29	68	1	0	6.00712e-18	0.760397	6.49419e-18	29	68				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	5	72	0	0	0	0.248553	0	5	72				
TRPM2	7226	broad.mit.edu	37	21	45795728	45795728	+	Missense_Mutation	SNP	G	G	A	rs201506177		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45795728G>A	ENST00000397928.1	+	6	1229	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A262T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A262T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A262T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	262					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGCTTCCCCGCCGAGTACAT	0.602																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(784-786)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80.0	67.0	71.0		784	3.9	0.6	21		71	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	262/1504	45795728	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45795728G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.784G>A	21.37:g.45795728G>A	ENSP00000381023:p.Ala262Thr					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A262T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A262T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A262T	p.A262T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			6	1229	+			262					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.784G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987725	0.53934	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.82923	2.615	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.20240	-1.0281	10	0.62326	D	0.03	-22.6467	12.6761	0.56895	0.0797:0.0:0.9203:0.0	.	262;262	E9PGK7;O94759	.;TRPM2_HUMAN	T	262	ENSP00000300482:A262T;ENSP00000381023:A262T;ENSP00000300481:A262T;ENSP00000381026:A262T	ENSP00000300481:A262T	A	+	1	0	TRPM2	44620156	1.000000	0.71417	0.586000	0.28679	0.011000	0.07611	7.219000	0.78000	1.226000	0.43582	0.563000	0.77884	GCC		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		15	25	0	0	0	0.457914	0	15	25				
RORC	6097	broad.mit.edu	37	1	151785790	151785790	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151785790G>A	ENST00000318247.6	-	8	1206	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RORC_ENST00000356728.6_Missense_Mutation_p.R346W|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.R421W	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	367	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTAGGCCCGGCACATCCTA	0.567																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1036-1038)Cgg>Tgg		RAR-related orphan receptor C							195.0	192.0	193.0					1																	151785790		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151785790G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1099C>T	1.37:g.151785790G>A	ENSP00000327025:p.Arg367Trp					RORC_ENST00000318247.6_Missense_Mutation_p.R367W|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.R421W	p.R346W	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1190	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		367			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.1036C>T	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236436	0.79800	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.96554	-4.05;-4.05;-4.05	4.62	2.67	0.31697	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.088762	0.45361	U	0.000374	D	0.97461	0.9169	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97583	1.0112	10	0.87932	D	0	.	12.1998	0.54319	0.0:0.0:0.6913:0.3087	.	367;421;367;346	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	W	346;421;367	ENSP00000349164:R346W;ENSP00000376461:R421W;ENSP00000327025:R367W	ENSP00000327025:R367W	R	-	1	2	RORC	150052414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.368000	0.66133	0.510000	0.28216	0.563000	0.77884	CGG		0.567	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			108	207	0	0	0	0.870114	0	108	207				
ZNF32	7580	broad.mit.edu	37	10	44139700	44139700	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:44139700T>C	ENST00000395797.1	-	3	808	c.620A>G	c.(619-621)cAc>cGc	p.H207R	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.H207R|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GACTCTGATGTGAACAATTAA	0.478																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(619-621)cAc>cGc		zinc finger protein 32							140.0	133.0	135.0					10																	44139700		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139700T>C	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.620A>G	10.37:g.44139700T>C	ENSP00000379143:p.His207Arg					ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.H207R|ZNF32-AS3_ENST00000458063.1_RNA	p.H207R	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	808	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	207					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.620A>G	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765139	0.69878	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	D;D	0.86865	-2.18;-2.18	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000090	D	0.95056	0.8399	H	0.95679	3.705	0.53688	D	0.999971	D	0.71674	0.998	D	0.85130	0.997	D	0.95959	0.8960	10	0.87932	D	0	-10.9251	12.7252	0.57166	0.0:0.0:0.0:1.0	.	207	P17041	ZNF32_HUMAN	R	207	ENSP00000363556:H207R;ENSP00000379143:H207R	ENSP00000363556:H207R	H	-	2	0	ZNF32	43459706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.319000	0.78375	0.533000	0.62120	CAC		0.478	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		6	166	0	0	0	0.217242	0	6	166				
APBB1	322	broad.mit.edu	37	11	6431909	6431909	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:6431909G>A	ENST00000609360.1	-	2	768	c.669C>T	c.(667-669)agC>agT	p.S223S	APBB1_ENST00000311051.3_Silent_p.S223S|APBB1_ENST00000389906.2_Silent_p.S223S|APBB1_ENST00000299402.6_Silent_p.S223S	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	223					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGTAGCCCAGCTTGAGTCCT	0.612																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(667-669)agC>agT		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							59.0	59.0	59.0					11																	6431909		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6431909G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.669C>T	11.37:g.6431909G>A						APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Silent_p.S223S|APBB1_ENST00000311051.3_Silent_p.S223S	p.S223S	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	768	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	223					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.669C>T																																																																																					0.612	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		20	50	0	0	0	0.654019	0	20	50				
HADHA	3030	broad.mit.edu	37	2	26416536	26416536	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:26416536C>T	ENST00000380649.3	-	17	1924	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	599					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCCGCCACATGTTTCGCT	0.547																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	GRCh37	CM040221	HADHA	M		c.(1795-1797)Gtg>Atg		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						179.0	168.0	172.0					2																	26416536		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26416536C>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1795G>A	2.37:g.26416536C>T	ENSP00000370023:p.Val599Met						p.V599M	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			17	1924	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		599					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.1795G>A	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095424	0.94197	.	.	ENSG00000084754	ENST00000380649;ENST00000492433	D;D	0.90788	-2.73;-2.73	5.97	5.97	0.96955	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.97166	0.9841	10	0.87932	D	0	-18.8182	18.9877	0.92779	0.0:1.0:0.0:0.0	.	599;599	E9KL44;P40939	.;ECHA_HUMAN	M	599;85	ENSP00000370023:V599M;ENSP00000438039:V85M	ENSP00000370023:V599M	V	-	1	0	HADHA	26270040	1.000000	0.71417	0.953000	0.39169	0.990000	0.78478	7.671000	0.83941	2.828000	0.97474	0.655000	0.94253	GTG		0.547	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		112	188	0	0	0	0.870114	0	112	188				
CTNNA2	1496	broad.mit.edu	37	2	80097023	80097023	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:80097023A>G	ENST00000402739.4	+	4	552	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	CTNNA2_ENST00000466387.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M217V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	183					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGGAAAGAGATGGTGAAACT	0.413																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(547-549)Atg>Gtg		catenin (cadherin-associated protein), alpha 2							115.0	108.0	110.0					2																	80097023		1849	4107	5956	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80097023A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.547A>G	2.37:g.80097023A>G	ENSP00000384638:p.Met183Val					CTNNA2_ENST00000361291.4_Missense_Mutation_p.M217V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M183V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M183V	p.M183V			P26232	CTNA2_HUMAN			9	1271	+			183					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.547A>G		.	.	.	.	.	.	.	.	.	.	A	6.727	0.502812	0.12822	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.91	5.91	0.95273	Vinculin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	N	0.11560	0.145	0.58432	D	0.99999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.07597	-1.0764	10	0.21540	T	0.41	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	183;183;183	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	V	183;183;217;183;183;183	ENSP00000418191:M183V;ENSP00000419295:M183V;ENSP00000355398:M217V;ENSP00000384638:M183V;ENSP00000444675:M183V;ENSP00000441705:M183V	ENSP00000355398:M217V	M	+	1	0	CTNNA2	79950531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.949000	0.93012	2.266000	0.75297	0.533000	0.62120	ATG		0.413	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		4	185	0	0	0	0.150653	0	4	185				
PEMT	10400	broad.mit.edu	37	17	17425656	17425656	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:17425656G>T	ENST00000395783.1	-	3	326	c.147C>A	c.(145-147)ccC>ccA	p.P49P	PEMT_ENST00000395781.2_Silent_p.P86P|PEMT_ENST00000395782.1_Silent_p.P49P|PEMT_ENST00000435340.2_Silent_p.P64P|PEMT_ENST00000255389.5_Silent_p.P86P	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	49					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		AGGCCAGGTAGGGGGATCCGA	0.572																																						ENST00000395781.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7						c.(256-258)ccC>ccA		phosphatidylethanolamine N-methyltransferase							122.0	90.0	101.0					17																	17425656		2203	4300	6503	SO:0001819	synonymous_variant	10400				cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity	g.chr17:17425656G>T	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.147C>A	17.37:g.17425656G>T						PEMT_ENST00000395782.1_Silent_p.P49P|PEMT_ENST00000435340.2_Silent_p.P64P|PEMT_ENST00000255389.5_Silent_p.P86P|PEMT_ENST00000395783.1_Silent_p.P49P	p.P86P	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN		Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)	3	339	-			49					A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	c.258C>A	CCDS11187.1																																																																																				0.572	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169		5	28	1	0	0.00116845	0.217242	0.00119258	5	28				
NRP2	8828	broad.mit.edu	37	2	206562300	206562300	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:206562300G>A	ENST00000357785.5	+	2	137	c.106G>A	c.(106-108)Gat>Aat	p.D36N	NRP2_ENST00000355117.4_Missense_Mutation_p.D36N|NRP2_ENST00000540841.1_Missense_Mutation_p.D36N|NRP2_ENST00000540178.1_Missense_Mutation_p.D36N|NRP2_ENST00000357118.4_Missense_Mutation_p.D36N|NRP2_ENST00000360409.3_Missense_Mutation_p.D36N|NRP2_ENST00000272849.3_Missense_Mutation_p.D36N|NRP2_ENST00000417189.1_Missense_Mutation_p.D36N|NRP2_ENST00000412873.2_Missense_Mutation_p.D36N			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAATTCCAAAGATGCTGGCTA	0.512																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(106-108)Gat>Aat		neuropilin 2							313.0	299.0	303.0					2																	206562300		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562300G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.106G>A	2.37:g.206562300G>A	ENSP00000350432:p.Asp36Asn					NRP2_ENST00000540841.1_Missense_Mutation_p.D36N|NRP2_ENST00000540178.1_Missense_Mutation_p.D36N|NRP2_ENST00000355117.4_Missense_Mutation_p.D36N|NRP2_ENST00000412873.2_Missense_Mutation_p.D36N|NRP2_ENST00000357118.4_Missense_Mutation_p.D36N|NRP2_ENST00000357785.5_Missense_Mutation_p.D36N|NRP2_ENST00000272849.3_Missense_Mutation_p.D36N|NRP2_ENST00000417189.1_Missense_Mutation_p.D36N	p.D36N	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			2	897	+			36			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.106G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945512	0.53079	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.37	5.37	0.77165	CUB (5);	0.092424	0.64402	D	0.000001	T	0.28134	0.0694	N	0.13327	0.33	0.48632	D	0.999689	B;B;P;B;B;B	0.52842	0.007;0.013;0.956;0.026;0.026;0.004	B;B;D;B;B;B	0.79108	0.031;0.031;0.992;0.057;0.057;0.021	T	0.14924	-1.0455	10	0.48119	T	0.1	-18.4585	19.1206	0.93362	0.0:0.0:1.0:0.0	.	36;36;36;36;36;36	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	N	36	ENSP00000353582:D36N;ENSP00000439658:D36N;ENSP00000439261:D36N;ENSP00000347238:D36N;ENSP00000404279:D36N;ENSP00000387519:D36N;ENSP00000349632:D36N;ENSP00000350432:D36N;ENSP00000407626:D36N;ENSP00000272849:D36N	ENSP00000272849:D36N	D	+	1	0	NRP2	206270545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.497000	0.84241	0.655000	0.94253	GAT		0.512	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			7	688	0	0	0	0.307466	0	7	688				
UQCC1	55245	broad.mit.edu	37	20	33961989	33961989	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33961989A>T	ENST00000374385.5	-	5	581	c.404T>A	c.(403-405)cTa>cAa	p.L135Q	UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000374384.2_Missense_Mutation_p.L135Q|UQCC1_ENST00000374380.2_Missense_Mutation_p.L67Q|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.L135Q|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000397556.3_Missense_Mutation_p.L36Q|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000407996.2_Intron	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	135				LR -> MG (in Ref. 2; BAB14217). {ECO:0000305}.		cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TAACTTACTTAGAAAGAATTC	0.343																																						ENST00000397554.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17						c.(403-405)cTa>cAa									72.0	71.0	71.0					20																	33961989		2203	4300	6503	SO:0001583	missense	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33961989A>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.404T>A	20.37:g.33961989A>T	ENSP00000363506:p.Leu135Gln					UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_Missense_Mutation_p.L36Q|UQCC_ENST00000374385.5_Missense_Mutation_p.L135Q|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000542501.1_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.L135Q|UQCC_ENST00000374380.2_Missense_Mutation_p.L67Q|UQCC_ENST00000349714.5_Intron|UQCC_ENST00000374377.5_Intron	p.L135Q			Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		5	414	-			135	LR -> MG (in Ref. 2; BAB14217).				B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.404T>A	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	A	7.936	0.741649	0.15642	.	.	ENSG00000101019	ENST00000374384;ENST00000374380;ENST00000374385;ENST00000397556;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T	0.40476	1.58;1.58;1.03;1.59;1.56	4.61	2.26	0.28386	.	0.467396	0.19948	N	0.102499	T	0.22704	0.0548	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.19445	0.001;0.036;0.003;0.036;0.001	B;B;B;B;B	0.19666	0.004;0.026;0.008;0.018;0.007	T	0.05289	-1.0894	10	0.13108	T	0.6	-16.0003	5.3059	0.15803	0.4762:0.1405:0.0:0.3833	.	67;127;135;135;135	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1	.;.;.;.;UQCC_HUMAN	Q	135;67;135;36;103;149;135	ENSP00000363505:L135Q;ENSP00000363506:L135Q;ENSP00000399713:L103Q;ENSP00000398531:L149Q;ENSP00000380686:L135Q	ENSP00000363501:L67Q	L	-	2	0	UQCC	33425403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.334000	0.43920	0.331000	0.23511	0.455000	0.32223	CTA		0.343	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		64	112	0	0	0	0.870114	0	64	112				
NNT	23530	broad.mit.edu	37	5	43609438	43609438	+	Silent	SNP	T	T	A	rs143463864	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:43609438T>A	ENST00000264663.5	+	2	362	c.141T>A	c.(139-141)ccT>ccA	p.P47P	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Silent_p.P47P	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	47					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GTAAAGCGCCTGTAAAACCAG	0.383																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(139-141)ccT>ccA		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						73.0	76.0	75.0					5																	43609438		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43609438T>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.141T>A	5.37:g.43609438T>A						NNT_ENST00000344920.4_Silent_p.P47P|NNT_ENST00000512996.2_Intron	p.P47P	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			2	362	+	Lung NSC(6;2.58e-06)		47					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.141T>A	CCDS3949.1																																																																																				0.383	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		3	107	0	0	0	0.115264	0	3	107				
LPP	4026	broad.mit.edu	37	3	188590487	188590487	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:188590487A>G	ENST00000312675.4	+	10	1892	c.1646A>G	c.(1645-1647)cAg>cGg	p.Q549R	LPP_ENST00000543006.1_Missense_Mutation_p.Q549R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	549	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCCCCGGGCCAGGAGGAGACT	0.547			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1645-1647)cAg>cGg		LIM domain containing preferred translocation partner in lipoma							139.0	119.0	126.0					3																	188590487		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590487A>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1646A>G	3.37:g.188590487A>G	ENSP00000318089:p.Gln549Arg					LPP_ENST00000543006.1_Missense_Mutation_p.Q549R	p.Q549R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	10	1892	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	549			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1646A>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250274	0.80024	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.56611	0.45;0.45	5.51	5.51	0.81932	Zinc finger, LIM-type (4);	0.050693	0.85682	D	0.000000	T	0.49898	0.1584	L	0.33189	0.99	0.80722	D	1	P;B	0.35468	0.503;0.41	B;B	0.44224	0.175;0.444	T	0.43829	-0.9367	10	0.25106	T	0.35	.	14.8155	0.70031	1.0:0.0:0.0:0.0	.	402;549	B7Z8W0;Q93052	.;LPP_HUMAN	R	549	ENSP00000318089:Q549R;ENSP00000438891:Q549R	ENSP00000318089:Q549R	Q	+	2	0	LPP	190073181	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.339000	0.96797	2.105000	0.64084	0.533000	0.62120	CAG		0.547	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		31	123	0	0	0	0.827153	0	31	123				
UMODL1	89766	broad.mit.edu	37	21	43519186	43519186	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:43519186A>G	ENST00000408910.2	+	7	1082	c.1082A>G	c.(1081-1083)cAg>cGg	p.Q361R	UMODL1_ENST00000400424.2_Missense_Mutation_p.Q289R|UMODL1_ENST00000400427.1_Missense_Mutation_p.Q289R|UMODL1_ENST00000408989.2_Missense_Mutation_p.Q361R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	361	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACACAGAGCCAGGCACTGGCA	0.577																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(865-867)cAg>cGg		uromodulin-like 1							54.0	62.0	59.0					21																	43519186		2080	4206	6286	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519186A>G		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1082A>G	21.37:g.43519186A>G	ENSP00000386147:p.Gln361Arg					UMODL1_ENST00000408989.2_Missense_Mutation_p.Q361R|UMODL1_ENST00000408910.2_Missense_Mutation_p.Q361R|UMODL1_ENST00000400424.1_Missense_Mutation_p.Q289R	p.Q289R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			7	1262	+			361			EGF-like 1; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.866A>G	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.610490	0.00835	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.29	-8.58	0.00897	Fibronectin, type III (2);	2.568640	0.01630	N	0.023509	T	0.15046	0.0363	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.17433	0.0;0.018;0.001	T	0.22591	-1.0212	10	0.18276	T	0.48	3.0446	0.0615	0.00015	0.3153:0.2304:0.2017:0.2526	.	289;361;361	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	R	289;289;361;361;207	ENSP00000383279:Q289R;ENSP00000383276:Q289R;ENSP00000386126:Q361R;ENSP00000386147:Q361R	ENSP00000369829:Q207R	Q	+	2	0	UMODL1	42392255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.959000	0.03853	-2.385000	0.00590	-1.293000	0.01348	CAG		0.577	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			25	73	0	0	0	0.667858	0	25	73				
PIK3C3	5289	broad.mit.edu	37	18	39609379	39609379	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:39609379C>T	ENST00000262039.4	+	15	1767	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R46C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R498C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	561					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGCAGTACAACGCGAAAGTGG	0.408										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(1681-1683)Cgc>Tgc		phosphatidylinositol 3-kinase, catalytic subunit type 3							148.0	132.0	138.0					18																	39609379		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39609379C>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1681C>T	18.37:g.39609379C>T	ENSP00000262039:p.Arg561Cys	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Missense_Mutation_p.R498C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R46C	p.R561C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			15	1767	+			561					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1681C>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304099	0.81136	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.81163	-1.46;-1.46	6.17	5.28	0.74379	Protein kinase-like domain (1);	0.154679	0.53938	D	0.000054	D	0.88683	0.6503	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.65443	0.935;0.786	D	0.89155	0.3526	9	.	.	.	.	14.9422	0.71003	0.2676:0.7324:0.0:0.0	.	498;561	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	C	561;498	ENSP00000262039:R561C;ENSP00000381845:R498C	.	R	+	1	0	PIK3C3	37863377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.499000	0.45372	1.564000	0.49628	0.655000	0.94253	CGC		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		34	82	0	0	0	0.779181	0	34	82				
KPTN	11133	broad.mit.edu	37	19	47980969	47980969	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:47980969A>C	ENST00000338134.3	-	9	964	c.857T>G	c.(856-858)gTg>gGg	p.V286G	KPTN_ENST00000536339.1_Missense_Mutation_p.V46G|KPTN_ENST00000595484.1_5'Flank	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	286					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACCGATACACCACTGCTGG	0.517																																						ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(856-858)gTg>gGg		kaptin (actin binding protein)							96.0	106.0	103.0					19																	47980969		2158	4252	6410	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47980969A>C	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.857T>G	19.37:g.47980969A>C	ENSP00000337850:p.Val286Gly					KPTN_ENST00000536339.1_Missense_Mutation_p.V46G	p.V286G	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	9	964	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	286					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.857T>G	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007530	0.75046	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	T;T	0.66638	-0.22;1.59	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.84414	0.0567	10	0.87932	D	0	-25.8122	12.7382	0.57236	1.0:0.0:0.0:0.0	.	286	Q9Y664	KPTN_HUMAN	G	286;46	ENSP00000337850:V286G;ENSP00000442579:V46G	ENSP00000337850:V286G	V	-	2	0	KPTN	52672781	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.103000	0.71492	1.967000	0.57214	0.459000	0.35465	GTG		0.517	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			11	33	0	0	0	0.387290	0	11	33				
ADAMTS18	170692	broad.mit.edu	37	16	77331255	77331255	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:77331255G>A	ENST00000282849.5	-	18	3150	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	911					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGCAGAATGAGGAATTGAC	0.393																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2731-2733)tCa>tTa		ADAM metallopeptidase with thrombospondin type 1 motif, 18							177.0	172.0	173.0					16																	77331255		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331255G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2732C>T	16.37:g.77331255G>A	ENSP00000282849:p.Ser911Leu						p.S911L	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			18	3150	-			911					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2732C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942885	0.92526	.	.	ENSG00000140873	ENST00000282849	T	0.60797	0.16	6.06	6.06	0.98353	.	0.204017	0.42682	D	0.000674	T	0.67524	0.2902	M	0.73372	2.23	0.52099	D	0.999947	P;P	0.45902	0.617;0.868	B;P	0.47251	0.198;0.542	T	0.70008	-0.4990	10	0.72032	D	0.01	.	19.6164	0.95636	0.0:0.0:1.0:0.0	.	911;911	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	911	ENSP00000282849:S911L	ENSP00000282849:S911L	S	-	2	0	ADAMTS18	75888756	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.795000	0.62489	2.871000	0.98454	0.655000	0.94253	TCA		0.393	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			68	106	0	0	0	0.870114	0	68	106				
KDM2A	22992	broad.mit.edu	37	11	66999421	66999421	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66999421C>T	ENST00000529006.2	+	12	1915	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.A490V	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	490					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCTCTCATTGCTGATGTAAAG	0.458																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1468-1470)gCt>gTt		lysine (K)-specific demethylase 2A							188.0	184.0	186.0					11																	66999421		2047	4198	6245	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66999421C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1469C>T	11.37:g.66999421C>T	ENSP00000432786:p.Ala490Val					KDM2A_ENST00000398645.2_Missense_Mutation_p.A490V|KDM2A_ENST00000526258.1_3'UTR	p.A490V	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			12	1915	+			490					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1469C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595457	0.46318	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.45276	0.9;2.22	5.91	5.91	0.95273	.	0.469117	0.24771	N	0.035736	T	0.34919	0.0914	L	0.34521	1.04	0.80722	D	1	B	0.23937	0.094	B	0.15870	0.014	T	0.04825	-1.0924	10	0.31617	T	0.26	-11.9829	17.4691	0.87641	0.0:1.0:0.0:0.0	.	490	Q9Y2K7	KDM2A_HUMAN	V	490	ENSP00000381640:A490V;ENSP00000432786:A490V	ENSP00000381640:A490V	A	+	2	0	KDM2A	66755997	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	3.622000	0.54217	2.817000	0.96982	0.643000	0.83706	GCT		0.458	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		146	287	0	0	0	0.870114	0	146	287				
N4BP1	9683	broad.mit.edu	37	16	48595100	48595100	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:48595100G>T	ENST00000262384.3	-	2	1690	c.1454C>A	c.(1453-1455)aCa>aAa	p.T485K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	485					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAGGGTCTGTGTTACAAAT	0.418																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(1453-1455)aCa>aAa		NEDD4 binding protein 1							145.0	147.0	146.0					16																	48595100		1898	4114	6012	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595100G>T	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1454C>A	16.37:g.48595100G>T	ENSP00000262384:p.Thr485Lys					RP11-44I10.3_ENST00000563994.1_RNA	p.T485K	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	1690	-		all_cancers(37;0.179)|all_lung(18;0.11)	485					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1454C>A	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	3.060	-0.193478	0.06259	.	.	ENSG00000102921	ENST00000262384	T	0.42131	0.98	6.08	-6.77	0.01727	.	2.063510	0.01406	N	0.013785	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.47649	-0.9101	10	0.06099	T	0.92	5.2431	18.8001	0.92013	0.4027:0.0:0.5973:0.0	.	485	O75113	N4BP1_HUMAN	K	485	ENSP00000262384:T485K	ENSP00000262384:T485K	T	-	2	0	N4BP1	47152601	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.171000	0.09883	-1.069000	0.03153	-0.312000	0.09012	ACA		0.418	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		50	100	1	0	4.10826e-27	0.870114	4.52286e-27	50	100				
SPEN	23013	broad.mit.edu	37	1	16261593	16261593	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:16261593T>C	ENST00000375759.3	+	11	9062	c.8858T>C	c.(8857-8859)aTt>aCt	p.I2953T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2953					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACCCCAAGCATTGTCACCACA	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(8857-8859)aTt>aCt		spen family transcriptional repressor							63.0	66.0	65.0					1																	16261593		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261593T>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8858T>C	1.37:g.16261593T>C	ENSP00000364912:p.Ile2953Thr						p.I2953T	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9062	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2953					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8858T>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847860	0.32606	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.58	5.58	0.84498	.	.	.	.	.	T	0.13713	0.0332	L	0.44542	1.39	0.25222	N	0.989893	P	0.49447	0.924	P	0.47044	0.535	T	0.14172	-1.0482	9	0.12766	T	0.61	-17.2117	13.7044	0.62629	0.0:0.0:0.0:1.0	.	2953	Q96T58	MINT_HUMAN	T	2953	ENSP00000364912:I2953T	ENSP00000364912:I2953T	I	+	2	0	SPEN	16134180	0.998000	0.40836	0.995000	0.50966	0.914000	0.54420	3.081000	0.50120	2.116000	0.64780	0.459000	0.35465	ATT		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		21	19	0	0	0	0.667858	0	21	19				
CCDC178	374864	broad.mit.edu	37	18	30825388	30825388	+	Missense_Mutation	SNP	G	G	A	rs146565345	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:30825388G>A	ENST00000383096.3	-	15	1596	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	CCDC178_ENST00000402325.1_Missense_Mutation_p.R472W|CCDC178_ENST00000583930.1_Missense_Mutation_p.R472W|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.R472W|CCDC178_ENST00000403303.1_Missense_Mutation_p.R472W|CCDC178_ENST00000300227.8_Missense_Mutation_p.R472W|CCDC178_ENST00000406524.2_Missense_Mutation_p.R472W			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	472																	GATTTTTTCCGTATGCTGTAA	0.234													G|||	5	0.000998403	0.0015	0.0	5008	,	,		17240	0.001		0.002	False		,,,				2504	0.0					ENST00000383096.3																			0											c.(1414-1416)Cgg>Tgg		coiled-coil domain containing 178		G	TRP/ARG,TRP/ARG	17,4385		0,17,2184	56.0	51.0	53.0		1414,1414	2.3	0.4	18	dbSNP_134	53	7,8575		0,7,4284	yes	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	101,101	0,24,6468	AA,AG,GG		0.0816,0.3862,0.1848	probably-damaging,probably-damaging	472/868,472/830	30825388	24,12960	2201	4291	6492	SO:0001583	missense	374864							g.chr18:30825388G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1414C>T	18.37:g.30825388G>A	ENSP00000372576:p.Arg472Trp					CCDC178_ENST00000402325.1_Missense_Mutation_p.R472W|CCDC178_ENST00000403303.1_Missense_Mutation_p.R472W|CCDC178_ENST00000583930.1_Missense_Mutation_p.R472W|CCDC178_ENST00000406524.2_Missense_Mutation_p.R472W|CCDC178_ENST00000579947.1_Missense_Mutation_p.R472W|CCDC178_ENST00000300227.8_Missense_Mutation_p.R472W|CCDC178_ENST00000579916.1_Intron	p.R472W							15	1596	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1414C>T	CCDS42424.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.714	-0.786183	0.02907	0.003862	8.16E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.75	2.33	0.28932	.	.	.	.	.	T	0.40932	0.1137	L	0.42245	1.32	0.20703	N	0.999865	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.56751	0.805;0.805;0.805;0.805	T	0.19128	-1.0315	9	0.87932	D	0	-0.5487	5.0078	0.14297	0.0:0.0961:0.1867:0.7172	.	472;472;472;472	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	W	472	ENSP00000385591:R472W;ENSP00000372576:R472W;ENSP00000300227:R472W;ENSP00000385867:R472W;ENSP00000385234:R472W	ENSP00000300227:R472W	R	-	1	2	C18orf34	29079386	0.600000	0.26899	0.438000	0.26821	0.013000	0.08279	1.203000	0.32284	0.400000	0.25396	-0.375000	0.07067	CGG		0.234	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		12	21	0	0	0	0.387290	0	12	21				
ZIK1	284307	broad.mit.edu	37	19	58096319	58096319	+	Splice_Site	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:58096319G>A	ENST00000597850.1	+	2	248		c.e2-1		ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000536878.2_Intron|ZIK1_ENST00000599456.1_Intron|ZIK1_ENST00000598726.1_Intron	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTTTCCACAGGTTACTGTGT	0.552																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e2-1		zinc finger protein interacting with K protein 1							115.0	99.0	105.0					19																	58096319		2203	4300	6503	SO:0001630	splice_region_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58096319G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.34-1G>A	19.37:g.58096319G>A						ZIK1_ENST00000536878.2_Intron|ZIK1_ENST00000599456.1_Intron|ZIK1_ENST00000598726.1_Intron|ZIK1_ENST00000307468.4_Intron		NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	248	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)						O43339|Q3SY51|Q3SY53	Splice_Site	SNP	ENST00000597850.1	37		CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	4.017	0.000562	0.07819	.	.	ENSG00000171649	ENST00000307468	.	.	.	2.75	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.23798	N	0.996819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6394	0.22901	0.0:0.0:0.6888:0.3112	.	.	.	.	.	-1	.	.	.	+	.	.	ZIK1	62788131	0.005000	0.15991	0.004000	0.12327	0.008000	0.06430	0.734000	0.26101	0.675000	0.31264	0.491000	0.48974	.		0.552	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	Intron	39	82	0	0	0	0.870114	0	39	82				
RASL10B	91608	broad.mit.edu	37	17	34068079	34068079	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:34068079A>G	ENST00000268864.3	+	4	744	c.367A>G	c.(367-369)Atc>Gtc	p.I123V		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	123	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGACGCCCATCATCATCGT	0.647																																						ENST00000268864.3																			0				breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(367-369)Atc>Gtc		RAS-like, family 10, member B							50.0	45.0	47.0					17																	34068079		2203	4300	6503	SO:0001583	missense	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34068079A>G	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.367A>G	17.37:g.34068079A>G	ENSP00000268864:p.Ile123Val						p.I123V	NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	744	+			123			Small GTPase-like.		B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	c.367A>G	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346522	0.41599	.	.	ENSG00000141150	ENST00000268864	T	0.80480	-1.38	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000010	T	0.69691	0.3139	L	0.31207	0.915	0.43698	D	0.996155	B	0.30361	0.277	B	0.33454	0.164	T	0.66268	-0.5966	10	0.27785	T	0.31	.	10.0235	0.42057	0.8306:0.1694:0.0:0.0	.	123	Q96S79	RSLAB_HUMAN	V	123	ENSP00000268864:I123V	ENSP00000268864:I123V	I	+	1	0	RASL10B	31092192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.536000	0.90627	2.036000	0.60181	0.459000	0.35465	ATC		0.647	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		25	38	0	0	0	0.706142	0	25	38				
PYGO1	26108	broad.mit.edu	37	15	55841138	55841138	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:55841138T>C	ENST00000302000.6	-	2	199	c.105A>G	c.(103-105)ccA>ccG	p.P35P	PYGO1_ENST00000563719.1_Silent_p.P35P	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	35					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTCTTATCTGGGCTTCCTA	0.368																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(103-105)ccA>ccG		pygopus family PHD finger 1							162.0	158.0	159.0					15																	55841138		2193	4292	6485	SO:0001819	synonymous_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55841138T>C	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.105A>G	15.37:g.55841138T>C						PYGO1_ENST00000563719.1_Silent_p.P35P	p.P35P	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	2	199	-			35					A7Y2D6	Silent	SNP	ENST00000302000.6	37	c.105A>G	CCDS10155.1																																																																																				0.368	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		48	91	0	0	0	0.870114	0	48	91				
NDUFAF5	79133	broad.mit.edu	37	20	13797837	13797837	+	Missense_Mutation	SNP	C	C	T	rs150559783	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:13797837C>T	ENST00000378106.5	+	11	1138	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.P312L	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	340					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										CTTATGCCACCGGGGAAAAAA	0.318																																						ENST00000378106.5																			0											c.(1018-1020)cCg>cTg		NADH dehydrogenase (ubiquinone) complex I, assembly factor 5		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	84.0	97.0	93.0		935,1019	3.3	0.1	20	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	C20orf7	NM_001039375.2,NM_024120.4	98,98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	312/318,340/346	13797837	2,13004	2203	4300	6503	SO:0001583	missense	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13797837C>T		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.1019C>T	20.37:g.13797837C>T	ENSP00000367346:p.Pro340Leu					NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.P312L	p.P340L	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN			11	1138	+			340					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.1019C>T	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	C	2.580	-0.297730	0.05532	0.0	2.33E-4	ENSG00000101247	ENST00000378106;ENST00000463598	T;T	0.79940	-1.32;-1.0	5.54	3.3	0.37823	.	0.733633	0.13805	N	0.361529	T	0.66147	0.2760	N	0.24115	0.695	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.003	T	0.51764	-0.8664	10	0.30078	T	0.28	-27.3466	6.9315	0.24444	0.6403:0.2847:0.075:0.0	.	312;340	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	L	340;312	ENSP00000367346:P340L;ENSP00000420497:P312L	ENSP00000367346:P340L	P	+	2	0	C20orf7	13745837	0.011000	0.17503	0.120000	0.21714	0.001000	0.01503	2.249000	0.43169	0.398000	0.25338	-0.998000	0.02512	CCG		0.318	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		10	285	0	0	0	0.411799	0	10	285				
RORC	6097	broad.mit.edu	37	1	151789698	151789698	+	Silent	SNP	G	G	A	rs200606878		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151789698G>A	ENST00000318247.6	-	3	236	c.129C>T	c.(127-129)taC>taT	p.Y43Y	RORC_ENST00000356728.6_Silent_p.Y22Y|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Silent_p.Y97Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	43					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGATAACCCCGTAGTGGATCC	0.532																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(64-66)taC>taT		RAR-related orphan receptor C							142.0	114.0	124.0					1																	151789698		2203	4300	6503	SO:0001819	synonymous_variant	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151789698G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.129C>T	1.37:g.151789698G>A						RORC_ENST00000318247.6_Silent_p.Y43Y|RORC_ENST00000392697.3_Silent_p.Y97Y	p.Y22Y	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	220	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		43			Modulating (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.66C>T	CCDS1004.1																																																																																				0.532	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			22	57	0	0	0	0.639603	0	22	57				
OR10G7	390265	broad.mit.edu	37	11	123909474	123909474	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909474T>A	ENST00000330487.5	-	1	243	c.235A>T	c.(235-237)Atg>Ttg	p.M79L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCATCAGCATTTTGGGCACC	0.537																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(235-237)Atg>Ttg		olfactory receptor, family 10, subfamily G, member 7							131.0	141.0	138.0					11																	123909474		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909474T>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.235A>T	11.37:g.123909474T>A	ENSP00000329689:p.Met79Leu						p.M79L	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	243	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	79					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.235A>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	T	9.342	1.063227	0.19987	.	.	ENSG00000182634	ENST00000330487	T	0.04862	3.54	3.39	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.114545	0.40222	N	0.001142	T	0.04952	0.0133	L	0.33485	1.01	0.27114	N	0.962294	B	0.02656	0.0	B	0.06405	0.002	T	0.33904	-0.9850	10	0.31617	T	0.26	.	7.6275	0.28220	0.0:0.1079:0.0:0.8921	.	79	Q8NGN6	O10G7_HUMAN	L	79	ENSP00000329689:M79L	ENSP00000329689:M79L	M	-	1	0	OR10G7	123414684	0.000000	0.05858	1.000000	0.80357	0.854000	0.48673	-1.627000	0.02033	0.516000	0.28340	0.374000	0.22700	ATG		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		21	298	0	0	0	0.681144	0	21	298				
MYO15A	51168	broad.mit.edu	37	17	18059537	18059537	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:18059537C>T	ENST00000205890.5	+	48	8826	c.8488C>T	c.(8488-8490)Ccc>Tcc	p.P2830S	MYO15A_ENST00000418233.3_Missense_Mutation_p.P94S|MYO15A_ENST00000585180.1_Missense_Mutation_p.A92V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2830	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTGACCATGCCCTCCCAGAA	0.562																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8488-8490)Ccc>Tcc		myosin XVA							103.0	105.0	105.0					17																	18059537		2073	4210	6283	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18059537C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8488C>T	17.37:g.18059537C>T	ENSP00000205890:p.Pro2830Ser					MYO15A_ENST00000418233.3_Missense_Mutation_p.P94S|MYO15A_ENST00000585180.1_Missense_Mutation_p.A92V	p.P2830S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			48	8826	+	all_neural(463;0.228)		2830			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8488C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200654	0.58126	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.88046	-2.33	4.59	4.59	0.56863	.	.	.	.	.	D	0.91865	0.7425	M	0.61703	1.905	0.80722	D	1	D;B;D	0.89917	1.0;0.435;1.0	D;B;D	0.76071	0.987;0.218;0.973	D	0.91168	0.4966	9	0.36615	T	0.2	.	16.3768	0.83409	0.0:1.0:0.0:0.0	.	29;94;2830	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	S	2830;29	ENSP00000205890:P2830S	ENSP00000205890:P2830S	P	+	1	0	MYO15A	18000262	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.709000	0.68384	2.092000	0.63282	0.462000	0.41574	CCC		0.562	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		35	78	0	0	0	0.796494	0	35	78				
ROBO2	6092	broad.mit.edu	37	3	77542422	77542422	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:77542422T>A	ENST00000461745.1	+	5	1595	c.695T>A	c.(694-696)aTt>aAt	p.I232N	ROBO2_ENST00000487694.3_Missense_Mutation_p.I248N|ROBO2_ENST00000332191.8_Missense_Mutation_p.I232N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	232	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGAGGCCAATTAACCAGGTG	0.378																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(694-696)aTt>aAt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							127.0	114.0	118.0					3																	77542422		1854	4109	5963	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542422T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.695T>A	3.37:g.77542422T>A	ENSP00000417164:p.Ile232Asn					ROBO2_ENST00000487694.3_Missense_Mutation_p.I248N|ROBO2_ENST00000332191.8_Missense_Mutation_p.I232N	p.I232N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1595	+			232			Ig-like C2-type 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.695T>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036683	0.75617	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.66099	-0.19;-0.19;-0.19	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	U	0.000454	T	0.56031	0.1958	N	0.04508	-0.205	0.36368	D	0.861141	D;D;D	0.62365	0.966;0.991;0.966	P;P;P	0.61477	0.889;0.876;0.763	T	0.60414	-0.7268	9	0.16896	T	0.51	.	16.2851	0.82714	0.0:0.0:0.0:1.0	.	248;232;232	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	248;248;248;232;232	ENSP00000417335:I248N;ENSP00000417164:I232N;ENSP00000327536:I232N	ENSP00000327536:I232N	I	+	2	0	ROBO2	77625112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.982000	0.88131	2.252000	0.74401	0.402000	0.26972	ATT		0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		68	55	0	0	0	0.870114	0	68	55				
TRIB1	10221	broad.mit.edu	37	8	126445606	126445606	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:126445606G>A	ENST00000520847.1	+	0	164				TRIB1_ENST00000311922.3_Silent_p.Q136Q|TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000519576.1_5'Flank					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CTTACATCCAGCTGCCATCGC	0.507																																						ENST00000520847.1																			0				NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8								tribbles pseudokinase 1							196.0	199.0	198.0					8																	126445606		2203	4300	6503			10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126445606G>A	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8			8.37:g.126445606G>A						TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000311922.3_Silent_p.Q136Q				Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		0	164	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)								Translation_Start_Site	SNP	ENST00000520847.1	37																																																																																						0.507	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381431.1	NM_025195		10	452	0	0	0	0.411799	0	10	452				
TMTC1	83857	broad.mit.edu	37	12	29920872	29920872	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:29920872T>C	ENST00000539277.1	-	2	497	c.439A>G	c.(439-441)Acg>Gcg	p.T147A	TMTC1_ENST00000381224.2_Missense_Mutation_p.T39A|TMTC1_ENST00000551659.1_Missense_Mutation_p.T147A|TMTC1_ENST00000256062.5_Missense_Mutation_p.T39A|TMTC1_ENST00000552618.1_Missense_Mutation_p.T147A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	147						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGCAATGCCGTTACAAAAGCA	0.368																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(115-117)Acg>Gcg		transmembrane and tetratricopeptide repeat containing 1							142.0	120.0	127.0					12																	29920872		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29920872T>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.439A>G	12.37:g.29920872T>C	ENSP00000442046:p.Thr147Ala					TMTC1_ENST00000551659.1_Missense_Mutation_p.T147A|TMTC1_ENST00000552618.1_Missense_Mutation_p.T147A|TMTC1_ENST00000539277.1_Missense_Mutation_p.T147A|TMTC1_ENST00000381224.2_Missense_Mutation_p.T39A	p.T39A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			2	588	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		147					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.115A>G	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	2.657	-0.280649	0.05642	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;D;D;D;T	0.93859	0.42;-3.3;-3.3;-3.3;2.22	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	N	0.01751	-0.74	0.46396	D	0.999029	B;B	0.32051	0.354;0.145	B;B	0.31946	0.138;0.065	T	0.81059	-0.1104	9	.	.	.	-17.2453	12.9883	0.58604	0.0:0.0:0.0:1.0	.	39;147	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	A	39;147;147;147;39	ENSP00000256062:T39A;ENSP00000448112:T147A;ENSP00000449043:T147A;ENSP00000442046:T147A;ENSP00000370622:T39A	.	T	-	1	0	TMTC1	29812139	1.000000	0.71417	0.266000	0.24541	0.430000	0.31655	4.945000	0.63568	2.088000	0.63022	0.533000	0.62120	ACG		0.368	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		39	85	0	0	0	0.859065	0	39	85				
ABCG4	64137	broad.mit.edu	37	11	119025497	119025497	+	Silent	SNP	G	G	A	rs375767553		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:119025497G>A	ENST00000449422.2	+	6	746	c.558G>A	c.(556-558)acG>acA	p.T186T	ABCG4_ENST00000307417.3_Silent_p.T186T|ABCG4_ENST00000531739.1_Silent_p.T186T	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	186	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGATCCTGACGGCACTGGGCC	0.647																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(556-558)acG>acA		ATP-binding cassette, sub-family G (WHITE), member 4		G	,	1,4399	2.1+/-5.4	0,1,2199	92.0	87.0	89.0		558,558	-6.6	0.9	11		89	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	ABCG4	NM_001142505.1,NM_022169.4	,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,	186/647,186/647	119025497	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025497G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.558G>A	11.37:g.119025497G>A						ABCG4_ENST00000449422.2_Silent_p.T186T|ABCG4_ENST00000531739.1_Silent_p.T186T	p.T186T	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	922	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	186			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.558G>A	CCDS8415.1																																																																																				0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		46	117	0	0	0	0.870114	0	46	117				
TBC1D3	729873	broad.mit.edu	37	17	36352528	36352528	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:36352528T>C	ENST00000537432.1	-	4	322		c.e4-2		RP11-1407O15.2_ENST00000544906.1_Splice_Site|RP11-1407O15.2_ENST00000312412.4_Splice_Site			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACACTGACCTGGCAGACAAT	0.413																																						ENST00000537432.1																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.e4-2		TBC1 domain family, member 3																																				SO:0001630	splice_region_variant	729873					intracellular	Rab GTPase activator activity	g.chr17:36352528T>C		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.167-2A>G	17.37:g.36352528T>C						RP11-1407O15.2_ENST00000544906.1_Splice_Site|RP11-1407O15.2_ENST00000312412.4_Splice_Site				Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	322	-	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)						A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Splice_Site	SNP	ENST00000537432.1	37		CCDS45658.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885264	0.33255	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000523089;ENST00000518004	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3798	0.44104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-1407O15.2	33606327	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.653000	0.83643	1.145000	0.42336	0.163000	0.16589	.		0.413	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391	Intron	9	183	0	0	0	0.361761	0	9	183				
HEATR4	399671	broad.mit.edu	37	14	73987615	73987615	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:73987615G>A	ENST00000553558.1	-	4	1331	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	HEATR4_ENST00000334988.2_Missense_Mutation_p.P337L|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.P290L	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	337										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCAGCTCGGGGAGTCACCTG	0.532																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1009-1011)cCc>cTc		HEAT repeat containing 4							164.0	149.0	154.0					14																	73987615		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73987615G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1010C>T	14.37:g.73987615G>A	ENSP00000450444:p.Pro337Leu					HEATR4_ENST00000560393.1_Missense_Mutation_p.P290L|HEATR4_ENST00000334988.2_Missense_Mutation_p.P337L	p.P337L	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	4	1331	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1010C>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462599	0.12402	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T;T	0.41400	1.0;1.01	5.39	-0.0115	0.13992	.	0.522115	0.17585	N	0.168983	T	0.30039	0.0752	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.24297	-1.0164	10	0.87932	D	0	-0.1981	10.1951	0.43049	0.081:0.5537:0.3653:0.0	.	337	Q86WZ0	HEAT4_HUMAN	L	337;290	ENSP00000450444:P337L;ENSP00000335447:P290L	ENSP00000335447:P290L	P	-	2	0	HEATR4	73057368	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.116000	0.10724	-0.299000	0.08909	-0.175000	0.13238	CCC		0.532	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		83	117	0	0	0	0.870114	0	83	117				
ELAC2	60528	broad.mit.edu	37	17	12905673	12905673	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:12905673C>T	ENST00000338034.4	-	14	1461	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	ELAC2_ENST00000395962.2_Missense_Mutation_p.E389K|ELAC2_ENST00000609345.1_5'Flank|ELAC2_ENST00000426905.3_Missense_Mutation_p.E368K	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	408					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGGGGCCCTCCTTCTGAAAG	0.572																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1222-1224)Gag>Aag		elaC ribonuclease Z 2							77.0	75.0	76.0					17																	12905673		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12905673C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1222G>A	17.37:g.12905673C>T	ENSP00000337445:p.Glu408Lys					ELAC2_ENST00000395962.2_Missense_Mutation_p.E389K|ELAC2_ENST00000426905.3_Missense_Mutation_p.E368K	p.E408K	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			14	1461	-			408					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1222G>A	CCDS11164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.993931|1.993931	0.35131|0.35131	.|.	.|.	ENSG00000006744|ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438|ENST00000446899	T;T;T|.	0.63417|.	0.39;-0.03;-0.04|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.415439|.	0.28365|.	N|.	0.015602|.	T|T	0.54029|0.54029	0.1833|0.1833	L|L	0.48642|0.48642	1.525|1.525	0.20196|0.20196	N|N	0.999922|0.999922	P;B;P;B;P;B;B;D|.	0.71674|.	0.554;0.027;0.692;0.027;0.565;0.224;0.048;0.998|.	B;B;B;B;B;B;B;D|.	0.66084|.	0.159;0.017;0.158;0.027;0.159;0.076;0.014;0.941|.	T|T	0.48747|0.48747	-0.9008|-0.9008	10|5	0.16896|.	T|.	0.51|.	-10.2366|-10.2366	17.2701|17.2701	0.87098|0.87098	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368;391;389;206;408;168;393;36|.	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3|.	.;.;.;.;RNZ2_HUMAN;.;.;.|.	K|E	368;408;389;86|187	ENSP00000405223:E368K;ENSP00000337445:E408K;ENSP00000379291:E389K|.	ENSP00000337445:E408K|.	E|G	-|-	1|2	0|0	ELAC2|ELAC2	12846398|12846398	0.691000|0.691000	0.27709|0.27709	0.172000|0.172000	0.22920|0.22920	0.015000|0.015000	0.08874|0.08874	3.072000|3.072000	0.50049|0.50049	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.572	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			16	29	0	0	0	0.557998	0	16	29				
PLSCR4	57088	broad.mit.edu	37	3	145917688	145917688	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:145917688G>A	ENST00000354952.2	-	6	776	c.536C>T	c.(535-537)aCt>aTt	p.T179I	PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.T179I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.T179I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	179					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATACAATCAGTGACCCGGAG	0.493																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(535-537)aCt>aTt		phospholipid scramblase 4							102.0	97.0	99.0					3																	145917688		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145917688G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.536C>T	3.37:g.145917688G>A	ENSP00000347038:p.Thr179Ile					PLSCR4_ENST00000493382.1_Missense_Mutation_p.T179I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.T179I|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron	p.T179I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			6	776	-			179					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.536C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384448	0.25031	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.87	3.09	0.35607	.	0.409827	0.23844	N	0.044018	T	0.20170	0.0485	L	0.41415	1.275	0.80722	D	1	P	0.52842	0.956	P	0.51582	0.674	T	0.09509	-1.0671	10	0.12766	T	0.61	.	6.6099	0.22745	0.3522:0.0:0.6478:0.0	.	179	Q9NRQ2	PLS4_HUMAN	I	179	ENSP00000347038:T179I;ENSP00000399315:T179I;ENSP00000419040:T179I;ENSP00000417896:T179I;ENSP00000418173:T179I	ENSP00000347038:T179I	T	-	2	0	PLSCR4	147400378	0.002000	0.14202	0.998000	0.56505	0.469000	0.32828	0.141000	0.16076	0.775000	0.33450	-0.136000	0.14681	ACT		0.493	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		3	78	0	0	0	0.115264	0	3	78				
BMP4	652	broad.mit.edu	37	14	54417384	54417384	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:54417384C>T	ENST00000245451.4	-	4	986	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	BMP4_ENST00000417573.1_Missense_Mutation_p.R198Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R198Q|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000559087.1_Missense_Mutation_p.R198Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	198					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCCAGTAGTCGTGTGATGAG	0.562																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(592-594)cGa>cAa		bone morphogenetic protein 4							85.0	81.0	83.0					14																	54417384		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417384C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.593G>A	14.37:g.54417384C>T	ENSP00000245451:p.Arg198Gln					BMP4_ENST00000558984.1_Missense_Mutation_p.R198Q|BMP4_ENST00000559087.1_Missense_Mutation_p.R198Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R198Q	p.R198Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	986	-			198					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.593G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917643	0.73098	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.69806	-0.43;-0.43	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.059641	0.64402	D	0.000002	T	0.64472	0.2601	L	0.45698	1.435	0.45554	D	0.998502	B	0.31625	0.332	B	0.35312	0.2	T	0.64892	-0.6300	10	0.48119	T	0.1	.	17.6708	0.88217	0.0:1.0:0.0:0.0	.	198	P12644	BMP4_HUMAN	Q	198	ENSP00000245451:R198Q;ENSP00000394165:R198Q	ENSP00000245451:R198Q	R	-	2	0	BMP4	53487134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.645000	0.61404	2.653000	0.90120	0.655000	0.94253	CGA		0.562	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		40	75	0	0	0	0.834066	0	40	75				
DSCAM	1826	broad.mit.edu	37	21	41416060	41416060	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:41416060T>C	ENST00000400454.1	-	31	5805	c.5328A>G	c.(5326-5328)gcA>gcG	p.A1776A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1776					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTACTGATCCTGCAGCCCTGG	0.632																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5326-5328)gcA>gcG		Down syndrome cell adhesion molecule							127.0	135.0	133.0					21																	41416060		2181	4284	6465	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41416060T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5328A>G	21.37:g.41416060T>C							p.A1776A	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			31	5805	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1776					O60468	Silent	SNP	ENST00000400454.1	37	c.5328A>G	CCDS42929.1																																																																																				0.632	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	119	0	0	0	0.278610	0	6	119				
SIPA1L2	57568	broad.mit.edu	37	1	232581504	232581504	+	Missense_Mutation	SNP	T	T	C	rs535183446	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:232581504T>C	ENST00000366630.1	-	10	3482	c.3124A>G	c.(3124-3126)Atg>Gtg	p.M1042V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M1042V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.M116V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1042					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TATTCCACCATAGGGATCCGG	0.572													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17843	0.0		0.0	False		,,,				2504	0.0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3124-3126)Atg>Gtg		signal-induced proliferation-associated 1 like 2							91.0	92.0	91.0					1																	232581504		1891	4115	6006	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232581504T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3124A>G	1.37:g.232581504T>C	ENSP00000355589:p.Met1042Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M1042V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.M116V	p.M1042V			Q9P2F8	SI1L2_HUMAN			10	3482	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1042					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3124A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	2.279	-0.365186	0.05103	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.62232	0.04;0.04;0.04	5.37	2.85	0.33270	.	0.095855	0.64402	D	0.000002	T	0.33059	0.0850	N	0.04880	-0.145	0.39944	D	0.974459	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.07462	-1.0771	10	0.13470	T	0.59	-26.0963	6.6697	0.23062	0.0:0.0745:0.2978:0.6278	.	1042;116	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1042;1042;116	ENSP00000355589:M1042V;ENSP00000262861:M1042V;ENSP00000309102:M116V	ENSP00000262861:M1042V	M	-	1	0	SIPA1L2	230648127	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.221000	0.51215	0.857000	0.35407	0.529000	0.55759	ATG		0.572	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	272	0	0	0	0.248553	0	6	272				
PCDHB7	56129	broad.mit.edu	37	5	140554727	140554727	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140554727A>C	ENST00000231137.3	+	1	2485	c.2311A>C	c.(2311-2313)Aac>Cac	p.N771H	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	771					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTATCCCCAACCTGCTACC	0.493																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2311-2313)Aac>Cac									76.0	112.0	99.0					5																	140554727		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554727A>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2311A>C	5.37:g.140554727A>C	ENSP00000231137:p.Asn771His						p.N771H	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2485	+			771					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2311A>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594197	0.28445	.	.	ENSG00000113212	ENST00000231137	T	0.18502	2.21	4.09	4.09	0.47781	.	.	.	.	.	T	0.23289	0.0563	M	0.81341	2.54	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13442	-1.0509	9	0.54805	T	0.06	.	8.7051	0.34349	0.9065:0.0:0.0935:0.0	.	771	Q9Y5E2	PCDB7_HUMAN	H	771	ENSP00000231137:N771H	ENSP00000231137:N771H	N	+	1	0	PCDHB7	140534911	0.002000	0.14202	0.002000	0.10522	0.088000	0.18126	2.066000	0.41452	1.617000	0.50277	0.374000	0.22700	AAC		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		10	69	0	0	0	0.608945	0	10	69				
PEX7	5191	broad.mit.edu	37	6	137191121	137191121	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:137191121T>C	ENST00000318471.4	+	7	808	c.727T>C	c.(727-729)Tat>Cat	p.Y243H	PEX7_ENST00000541292.1_Missense_Mutation_p.Y243H	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	243					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGGTCATACCTATGCTATTAG	0.338																																						ENST00000541292.1																			0				lung(7)|prostate(1)	8						c.(727-729)Tat>Cat		peroxisomal biogenesis factor 7							201.0	199.0	200.0					6																	137191121		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191121T>C	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.727T>C	6.37:g.137191121T>C	ENSP00000315680:p.Tyr243His					PEX7_ENST00000318471.4_Missense_Mutation_p.Y243H	p.Y243H			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	813	+	Colorectal(23;0.24)		243					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.727T>C	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496278	0.64186	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.80909	-1.43;-1.43	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055199	0.85682	D	0.000000	T	0.56877	0.2015	N	0.21097	0.63	0.51233	D	0.999918	P	0.35923	0.528	B	0.36134	0.218	T	0.61252	-0.7100	10	0.17832	T	0.49	-15.2269	15.1954	0.73084	0.0:0.0:0.0:1.0	.	243	O00628	PEX7_HUMAN	H	243	ENSP00000441004:Y243H;ENSP00000315680:Y243H	ENSP00000315680:Y243H	Y	+	1	0	PEX7	137232814	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.818000	0.69236	2.220000	0.72140	0.482000	0.46254	TAT		0.338	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		170	265	0	0	0	0.870114	0	170	265				
PDCD11	22984	broad.mit.edu	37	10	105173796	105173796	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:105173796G>C	ENST00000369797.3	+	10	1353	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	420	S1 motif 4. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CACAAGTGTAGAATTATTGAC	0.453																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1258-1260)aGa>aCa		programmed cell death 11							149.0	130.0	137.0					10																	105173796		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105173796G>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1259G>C	10.37:g.105173796G>C	ENSP00000358812:p.Arg420Thr						p.R420T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	10	1353	+		Colorectal(252;0.0747)|Breast(234;0.128)	420			S1 motif 4.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1259G>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585527	0.86748	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.18502	2.21	5.55	5.55	0.83447	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.82323	2.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.30937	-0.9961	10	0.29301	T	0.29	-14.1806	17.6727	0.88223	0.0:0.0:1.0:0.0	.	420	Q14690	RRP5_HUMAN	T	420	ENSP00000358812:R420T	ENSP00000358812:R420T	R	+	2	0	PDCD11	105163786	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.780000	0.75063	2.624000	0.88883	0.561000	0.74099	AGA		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			6	233	0	0	0	0.217242	0	6	233				
PLA2G4B	100137049	broad.mit.edu	37	15	42132730	42132730	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:42132730T>C	ENST00000452633.1	+	4	443	c.91T>C	c.(91-93)Tct>Cct	p.S31P	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31P|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S262P|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S262P|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262P			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	31	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGTGACCCCCTCTGACTGCTA	0.622																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(784-786)Tct>Cct									66.0	69.0	68.0					15																	42132730		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42132730T>C	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.91T>C	15.37:g.42132730T>C	ENSP00000396045:p.Ser31Pro					JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31P|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S31P|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262P	p.S262P	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			8	793	+			31			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.784T>C	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763217	0.31228	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.04	1.42	0.22433	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.463445	0.21983	N	0.066264	T	0.66237	0.2769	M	0.78285	2.405	0.38110	D	0.937526	B;B;B	0.18461	0.01;0.004;0.028	B;B;B	0.22152	0.038;0.011;0.011	T	0.58476	-0.7630	10	0.29301	T	0.29	-12.1795	7.6173	0.28165	0.0:0.338:0.0:0.662	.	31;262;262	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	P	262;262;31;31	ENSP00000371886:S262P;ENSP00000342785:S262P;ENSP00000416610:S31P;ENSP00000396045:S31P	ENSP00000342785:S262P	S	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920022	0.114000	0.22134	0.999000	0.59377	0.460000	0.32559	0.210000	0.17455	0.134000	0.18681	0.533000	0.62120	TCT		0.622	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		27	55	0	0	0	0.706142	0	27	55				
NPAS4	266743	broad.mit.edu	37	11	66192164	66192164	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66192164T>C	ENST00000311034.2	+	7	1979	c.1803T>C	c.(1801-1803)gaT>gaC	p.D601D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	601					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTCTGTGGATGTCCCCCTGG	0.582																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1801-1803)gaT>gaC		neuronal PAS domain protein 4							67.0	76.0	73.0					11																	66192164		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192164T>C	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1803T>C	11.37:g.66192164T>C							p.D601D	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1979	+			601					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1803T>C	CCDS8138.1																																																																																				0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		77	106	0	0	0	0.870114	0	77	106				
KCNT2	343450	broad.mit.edu	37	1	196274362	196274362	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:196274362A>G	ENST00000294725.9	-	22	3511		c.e22+1		KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGGGGTCTTACCTTTTCCAG	0.333																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e21+1		potassium channel, subfamily T, member 2							113.0	105.0	108.0					1																	196274362		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274362A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2595+1T>C	1.37:g.196274362A>G						KCNT2_ENST00000294725.8_Splice_Site|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site				Q6UVM3	KCNT2_HUMAN			21	2625	-								Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37		CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266200	0.80358	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.324	0.66507	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194540985	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.063000	0.93927	2.031000	0.59945	0.528000	0.53228	.		0.333	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	41	63	0	0	0	0.819951	0	41	63				
XKR4	114786	broad.mit.edu	37	8	56436132	56436132	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:56436132C>T	ENST00000327381.6	+	3	1399	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	433						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGATTGTGTTCGACATGGTGG	0.443																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1297-1299)ttC>ttT		XK, Kell blood group complex subunit-related family, member 4							228.0	210.0	216.0					8																	56436132		2203	4300	6503	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56436132C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1299C>T	8.37:g.56436132C>T							p.F433F	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1399	+			433					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.1299C>T	CCDS34893.1																																																																																				0.443	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		23	419	0	0	0	0.639603	0	23	419				
FAM184A	79632	broad.mit.edu	37	6	119301393	119301393	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:119301393C>T	ENST00000338891.7	-	10	2654	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E	FAM184A_ENST00000352896.5_Silent_p.E617E|FAM184A_ENST00000521531.1_Silent_p.E737E|FAM184A_ENST00000368475.4_Silent_p.E617E|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	737						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GATGTTGCTCCTCTAATTCTT	0.418																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2209-2211)gaG>gaA		family with sequence similarity 184, member A							151.0	139.0	143.0					6																	119301393		1900	4131	6031	SO:0001819	synonymous_variant	79632							g.chr6:119301393C>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2211G>A	6.37:g.119301393C>T						RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.E617E|FAM184A_ENST00000368475.4_Silent_p.E617E|FAM184A_ENST00000521531.1_Silent_p.E737E	p.E737E	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			10	2654	-			737					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.2211G>A	CCDS43499.1																																																																																				0.418	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		66	118	0	0	0	0.870114	0	66	118				
ABL2	27	broad.mit.edu	37	1	179090956	179090956	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:179090956A>G	ENST00000502732.1	-	5	937	c.734T>C	c.(733-735)gTa>gCa	p.V245A	ABL2_ENST00000512653.1_Missense_Mutation_p.V230A|ABL2_ENST00000408940.3_Missense_Mutation_p.V209A|ABL2_ENST00000511413.1_Missense_Mutation_p.V245A|ABL2_ENST00000344730.3_Missense_Mutation_p.V230A|ABL2_ENST00000504405.1_Missense_Mutation_p.V209A|ABL2_ENST00000392043.3_Missense_Mutation_p.V224A|ABL2_ENST00000367623.4_Missense_Mutation_p.V224A|ABL2_ENST00000507173.1_Missense_Mutation_p.V224A	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	245	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTGATGGTGTACAAGCTCTGC	0.463			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(733-735)gTa>gCa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						69.0	61.0	64.0					1																	179090956		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090956A>G	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.734T>C	1.37:g.179090956A>G	ENSP00000427562:p.Val245Ala					ABL2_ENST00000507173.1_Missense_Mutation_p.V224A|ABL2_ENST00000511413.1_Missense_Mutation_p.V245A|ABL2_ENST00000344730.3_Missense_Mutation_p.V230A|ABL2_ENST00000504405.1_Missense_Mutation_p.V209A|ABL2_ENST00000367623.4_Missense_Mutation_p.V224A|ABL2_ENST00000392043.3_Missense_Mutation_p.V224A|ABL2_ENST00000512653.1_Missense_Mutation_p.V230A|ABL2_ENST00000408940.3_Missense_Mutation_p.V209A	p.V245A	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			5	937	-			245			SH2.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.734T>C	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373766	0.82573	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.2	5.2	0.72013	SH2 motif (5);	0.000000	0.47093	D	0.000254	T	0.72342	0.3448	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.87578	0.992;0.994;0.994;0.996;0.996;0.993;0.997;0.998;0.996;0.998;0.996	T	0.82554	-0.0399	10	0.87932	D	0	.	14.2342	0.65913	1.0:0.0:0.0:0.0	.	224;224;245;209;209;224;209;245;230;209;230	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	A	245;209;230;230;209;224;224;245;224	ENSP00000427562:V245A;ENSP00000386152:V209A;ENSP00000339209:V230A;ENSP00000423578:V230A;ENSP00000426831:V209A;ENSP00000356595:V224A;ENSP00000423413:V224A;ENSP00000424697:V245A;ENSP00000375897:V224A	ENSP00000339209:V230A	V	-	2	0	ABL2	177357579	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.248000	0.95456	1.958000	0.56883	0.533000	0.62120	GTA		0.463	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		20	41	0	0	0	0.639603	0	20	41				
TMEM38B	55151	broad.mit.edu	37	9	108536277	108536277	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:108536277C>A	ENST00000374692.3	+	6	909	c.792C>A	c.(790-792)tcC>tcA	p.S264S	TMEM38B_ENST00000374688.1_Silent_p.S210S	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	264						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.S264S(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AGTCACCTTCCAATGGCGTTG	0.408																																						ENST00000374688.1																			1	Substitution - coding silent(1)	p.S264S(1)	lung(1)	kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(628-630)tcC>tcA		transmembrane protein 38B							98.0	95.0	96.0					9																	108536277		2203	4299	6502	SO:0001819	synonymous_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108536277C>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.792C>A	9.37:g.108536277C>A						TMEM38B_ENST00000374692.3_Silent_p.S264S	p.S210S			Q9NVV0	TM38B_HUMAN			6	1340	+			264					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	c.630C>A	CCDS6768.1																																																																																				0.408	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		66	49	1	0	6.26901e-30	0.870114	6.94719e-30	66	49				
FAM83C	128876	broad.mit.edu	37	20	33875605	33875605	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33875605G>A	ENST00000374408.3	-	4	1073	c.977C>T	c.(976-978)cCt>cTt	p.P326L	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	326										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TAGGGCCACAGGGGGAGGACG	0.657																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(976-978)cCt>cTt		family with sequence similarity 83, member C							83.0	70.0	75.0					20																	33875605		2200	4297	6497	SO:0001583	missense	128876							g.chr20:33875605G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.977C>T	20.37:g.33875605G>A	ENSP00000363529:p.Pro326Leu						p.P326L	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1073	-			326					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.977C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	3.975	-0.007618	0.07773	.	.	ENSG00000125998	ENST00000374408	T	0.08807	3.05	5.05	3.04	0.35103	.	1.017300	0.07891	N	0.971184	T	0.11922	0.0290	M	0.70595	2.14	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30937	-0.9961	10	0.49607	T	0.09	-1.5115	5.9766	0.19382	0.1658:0.0:0.6813:0.1529	.	326	Q9BQN1	FA83C_HUMAN	L	326	ENSP00000363529:P326L	ENSP00000363529:P326L	P	-	2	0	FAM83C	33339019	0.001000	0.12720	0.006000	0.13384	0.053000	0.15095	0.804000	0.27098	0.612000	0.30071	0.561000	0.74099	CCT		0.657	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			5	5	0	0	0	0.217242	0	5	5				
KLHL7	55975	broad.mit.edu	37	7	23191797	23191797	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:23191797A>G	ENST00000339077.5	+	7	1148	c.905A>G	c.(904-906)cAa>cGa	p.Q302R	KLHL7_ENST00000545443.1_Missense_Mutation_p.Q280R|KLHL7_ENST00000542558.1_Missense_Mutation_p.Q77R|KLHL7_ENST00000322231.7_Missense_Mutation_p.Q280R|KLHL7_ENST00000539124.1_Missense_Mutation_p.Q226R|KLHL7_ENST00000409689.1_Missense_Mutation_p.Q254R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	302					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAGGCTCTCAACCACAGTCT	0.393																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(838-840)cAa>cGa		kelch-like family member 7							114.0	108.0	110.0					7																	23191797		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23191797A>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.905A>G	7.37:g.23191797A>G	ENSP00000343273:p.Gln302Arg					KLHL7_ENST00000545443.1_Missense_Mutation_p.Q280R|KLHL7_ENST00000409689.1_Missense_Mutation_p.Q254R|KLHL7_ENST00000542558.1_Missense_Mutation_p.Q77R|KLHL7_ENST00000539124.1_Missense_Mutation_p.Q226R|KLHL7_ENST00000339077.4_Missense_Mutation_p.Q302R	p.Q280R			Q8IXQ5	KLHL7_HUMAN			8	1329	+			302					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.839A>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.549912	0.65311	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443;ENST00000414163	T;T;T;T;T;T;T	0.77489	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-1.1	5.78	5.78	0.91487	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	L	0.38175	1.15	0.58432	D	0.999996	B;B;B	0.20459	0.002;0.045;0.022	B;B;B	0.15052	0.0;0.011;0.012	T	0.65463	-0.6162	10	0.37606	T	0.19	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	77;302;280	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	R	143;268;280;302;226;77;254;280;70	ENSP00000322958:Q280R;ENSP00000343273:Q302R;ENSP00000441136:Q226R;ENSP00000442367:Q77R;ENSP00000386263:Q254R;ENSP00000442366:Q280R;ENSP00000404181:Q70R	ENSP00000322958:Q280R	Q	+	2	0	KLHL7	23158322	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	8.358000	0.90090	2.220000	0.72140	0.533000	0.62120	CAA		0.393	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		51	130	0	0	0	0.870114	0	51	130				
C1orf122	127687	broad.mit.edu	37	1	38274716	38274716	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:38274716G>A	ENST00000373042.4	+	3	563	c.304G>A	c.(304-306)Gat>Aat	p.D102N	C1orf122_ENST00000468084.1_Missense_Mutation_p.D39N|C1orf122_ENST00000373043.1_Missense_Mutation_p.D39N|C1orf122_ENST00000446260.2_Silent_p.R130R|YRDC_ENST00000373044.2_5'Flank			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	102										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				CTTTCCAAAGGATGCTGGCGA	0.612																																						ENST00000373043.1																			0				kidney(2)|lung(2)	4						c.(115-117)Gat>Aat		chromosome 1 open reading frame 122							51.0	61.0	58.0					1																	38274716		2203	4299	6502	SO:0001583	missense	127687							g.chr1:38274716G>A	AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.304G>A	1.37:g.38274716G>A	ENSP00000362133:p.Asp102Asn					C1orf122_ENST00000468084.1_Missense_Mutation_p.D39N|C1orf122_ENST00000525096.2_Intron|C1orf122_ENST00000446260.2_Silent_p.R130R|C1orf122_ENST00000373042.4_Missense_Mutation_p.D102N	p.D39N			Q6ZSJ8	CA122_HUMAN			2	1821	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)	102					A2RQF4|E9PQ13|Q56A71	Missense_Mutation	SNP	ENST00000373042.4	37	c.115G>A	CCDS427.2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236050	0.58886	.	.	ENSG00000197982	ENST00000373043;ENST00000468084;ENST00000373042	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	T	0.40171	0.1106	N	0.08118	0	0.80722	D	1	B	0.23185	0.081	B	0.27380	0.079	T	0.39941	-0.9589	8	0.87932	D	0	.	13.3637	0.60671	0.0:0.0:1.0:0.0	.	102	Q6ZSJ8	CA122_HUMAN	N	39;39;102	.	ENSP00000362133:D102N	D	+	1	0	C1orf122	38047303	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.018000	0.57174	2.873000	0.98535	0.563000	0.77884	GAT		0.612	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012471.2	NM_198446		41	39	0	0	0	0.870114	0	41	39				
BZRAP1	9256	broad.mit.edu	37	17	56388049	56388049	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:56388049C>A	ENST00000343736.4	-	20	3686	c.3523G>T	c.(3523-3525)Ggt>Tgt	p.G1175C	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1115C|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1175C			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1175						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTTCTCACCCAGGGTAGAT	0.667																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3523-3525)Ggt>Tgt		benzodiazapine receptor (peripheral) associated protein 1							26.0	21.0	23.0					17																	56388049		2201	4296	6497	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56388049C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3523G>T	17.37:g.56388049C>A	ENSP00000345824:p.Gly1175Cys					BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1175C|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1115C	p.G1175C	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			20	4393	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1175					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3523G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066698	0.55539	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04862	3.54;3.54;3.55	5.81	1.46	0.22682	.	0.807473	0.11802	N	0.528036	T	0.11024	0.0269	L	0.46157	1.445	0.09310	N	1	P;D;D	0.58268	0.855;0.982;0.977	B;P;P	0.57620	0.443;0.824;0.717	T	0.23440	-1.0188	10	0.38643	T	0.18	.	4.0035	0.09590	0.1658:0.5744:0.0:0.2598	.	1175;1115;1175	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	C	1175;1175;1115	ENSP00000347929:G1175C;ENSP00000345824:G1175C;ENSP00000268893:G1115C	ENSP00000268893:G1115C	G	-	1	0	BZRAP1	53743048	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.822000	0.27352	0.808000	0.34231	0.462000	0.41574	GGT		0.667	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	24	1	0	0.27861	0.278610	0.279609	7	24				
NR1H4	9971	broad.mit.edu	37	12	100957204	100957204	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:100957204G>A	ENST00000551379.1	+	9	1426	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	NR1H4_ENST00000548884.1_Missense_Mutation_p.M452I|NR1H4_ENST00000392986.3_Missense_Mutation_p.M456I|NR1H4_ENST00000549996.1_Missense_Mutation_p.M405I|NR1H4_ENST00000188403.7_Missense_Mutation_p.M462I			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	466	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AGATGCTGATGTCATGGAGAG	0.493																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(1354-1356)atG>atA		nuclear receptor subfamily 1, group H, member 4							132.0	121.0	125.0					12																	100957204		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100957204G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1398G>A	12.37:g.100957204G>A	ENSP00000447149:p.Met466Ile					NR1H4_ENST00000392986.3_Missense_Mutation_p.M456I|NR1H4_ENST00000188403.7_Missense_Mutation_p.M462I|NR1H4_ENST00000549996.1_Missense_Mutation_p.M405I|NR1H4_ENST00000551379.1_Missense_Mutation_p.M466I	p.M452I	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			11	1897	+			466			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.1356G>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384080	0.25031	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.59	5.59	0.84812	Nuclear hormone receptor, ligand-binding (2);	0.192391	0.64402	D	0.000003	D	0.88735	0.6517	N	0.11106	0.095	0.50813	D	0.999894	B;B;B;B;B	0.33964	0.38;0.008;0.38;0.434;0.003	B;B;B;B;B	0.36289	0.153;0.016;0.153;0.221;0.009	D	0.86098	0.1554	10	0.12430	T	0.62	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	405;466;462;456;452	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	I	452;456;405;466;462	ENSP00000448506:M452I;ENSP00000376712:M456I;ENSP00000448978:M405I;ENSP00000447149:M466I;ENSP00000188403:M462I	ENSP00000188403:M462I	M	+	3	0	NR1H4	99481335	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.462000	0.60121	2.793000	0.96121	0.561000	0.74099	ATG		0.493	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		104	184	0	0	0	0.870114	0	104	184				
DHRS4	10901	broad.mit.edu	37	14	24424296	24424296	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24424296G>A	ENST00000313250.5	+	2	384	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43I|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61I|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61I|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61I|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61I|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43I|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61I|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43I|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43I|DHRS4_ENST00000558581.1_Missense_Mutation_p.V61I	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	61					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CCATGTGGTCGTCAGCAGCCG	0.657																																						ENST00000313250.5																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(181-183)Gtc>Atc		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424296G>A	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.181G>A	14.37:g.24424296G>A	ENSP00000326219:p.Val61Ile					DHRS4_ENST00000558581.1_Missense_Mutation_p.V61I|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61I|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43I|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61I|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43I|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61I|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61I|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43I|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43I|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61I	p.V61I	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	384	+			61					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.181G>A	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164056	0.06502	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.87729	0.86;2.08;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	3.48	-1.8	0.07907	NAD(P)-binding domain (1);	0.405922	0.24573	N	0.037373	T	0.64940	0.2644	N	0.10837	0.055	0.44762	D	0.99776	B;B;B;B;B;B	0.22800	0.075;0.003;0.035;0.035;0.042;0.002	B;B;B;B;B;B	0.23716	0.012;0.008;0.023;0.023;0.048;0.014	T	0.55915	-0.8065	10	0.02654	T	1	.	5.0132	0.14322	0.4921:0.1577:0.3502:0.0	.	61;61;61;61;61;61	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	I	61;43;43;43;43;61;61;61	ENSP00000326219:V61I;ENSP00000404147:V43I;ENSP00000380263:V43I;ENSP00000311993:V43I;ENSP00000372209:V43I;ENSP00000380265:V61I;ENSP00000380264:V61I;ENSP00000440508:V61I	ENSP00000311993:V43I	V	+	1	0	DHRS4	23494136	0.020000	0.18652	0.741000	0.31004	0.893000	0.52053	0.065000	0.14466	-0.742000	0.04790	0.479000	0.44913	GTC		0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			48	26	0	0	0	0.870114	0	48	26				
MORC1	27136	broad.mit.edu	37	3	108836867	108836867	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:108836867G>A	ENST00000483760.1	-	1	83	c.40C>T	c.(40-42)Cgt>Tgt	p.R14C	MORC1_ENST00000232603.5_Missense_Mutation_p.R14C					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAATCCAGACGCAGCTGGGCC	0.657																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(40-42)Cgt>Tgt		MORC family CW-type zinc finger 1							32.0	25.0	27.0					3																	108836867		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108836867G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.40C>T	3.37:g.108836867G>A	ENSP00000417282:p.Arg14Cys					MORC1_ENST00000483760.1_Missense_Mutation_p.R14C	p.R14C	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			1	122	-			14						Missense_Mutation	SNP	ENST00000483760.1	37	c.40C>T		.	.	.	.	.	.	.	.	.	.	G	10.56	1.385337	0.25031	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05580	3.42;3.43	4.86	3.07	0.35406	.	0.563324	0.16155	N	0.227065	T	0.01905	0.0060	N	0.01576	-0.805	0.28832	N	0.897114	P;B	0.40931	0.733;0.0	B;B	0.31547	0.132;0.0	T	0.33752	-0.9856	10	0.54805	T	0.06	-2.338	6.1636	0.20378	0.0948:0.0:0.7207:0.1846	.	14;14	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	14	ENSP00000232603:R14C;ENSP00000417282:R14C	ENSP00000232603:R14C	R	-	1	0	MORC1	110319557	0.903000	0.30736	0.883000	0.34634	0.279000	0.26890	1.778000	0.38614	0.769000	0.33313	0.561000	0.74099	CGT		0.657	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			3	10	0	0	0	0.150653	0	3	10				
TMPRSS4	56649	broad.mit.edu	37	11	117984053	117984053	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:117984053G>T	ENST00000437212.3	+	9	1027	c.813G>T	c.(811-813)ctG>ctT	p.L271L	TMPRSS4_ENST00000523251.1_Silent_p.L231L|TMPRSS4_ENST00000534111.1_Silent_p.L269L|TMPRSS4_ENST00000522307.1_Silent_p.L124L|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522824.1_Silent_p.L266L			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	271	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCCCATCCCTGGCTGTGGCCA	0.537																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(805-807)ctG>ctT		transmembrane protease, serine 4							178.0	158.0	165.0					11																	117984053		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117984053G>T	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.813G>T	11.37:g.117984053G>T						TMPRSS4_ENST00000522307.1_Silent_p.L124L|TMPRSS4_ENST00000523251.1_Silent_p.L231L|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000437212.3_Silent_p.L271L|TMPRSS4_ENST00000522824.1_Silent_p.L266L	p.L269L	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	9	1072	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	271			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.807G>T	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	0.812	-0.751744	0.03041	.	.	ENSG00000137648	ENST00000524218	.	.	.	5.21	2.34	0.29019	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	4.9911	0.14214	0.2566:0.1524:0.591:0.0	.	.	.	.	L	16	.	.	W	+	2	0	TMPRSS4	117489263	0.160000	0.22878	0.944000	0.38274	0.083000	0.17756	0.264000	0.18497	0.219000	0.20840	-0.150000	0.13652	TGG		0.537	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		6	181	1	0	0.00116845	0.217242	0.00119258	6	181				
CES5A	221223	broad.mit.edu	37	16	55886920	55886920	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:55886920C>T	ENST00000290567.9	-	10	1267	c.1146G>A	c.(1144-1146)ttG>ttA	p.L382L	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000521992.1_Silent_p.L411L|CES5A_ENST00000520435.1_Silent_p.L352L|CES5A_ENST00000319165.9_Silent_p.L382L|CES5A_ENST00000518005.1_Silent_p.L276L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	382						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCACAAGGTGCAAATACTGAG	0.473																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1231-1233)ttG>ttA		carboxylesterase 5A							113.0	105.0	108.0					16																	55886920		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55886920C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1146G>A	16.37:g.55886920C>T						CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Silent_p.L382L|CES5A_ENST00000319165.9_Silent_p.L382L|CES5A_ENST00000520435.1_Silent_p.L352L|CES5A_ENST00000518005.1_Silent_p.L276L	p.L411L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			11	1378	-			382					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1233G>A	CCDS45490.1																																																																																				0.473	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		5	124	0	0	0	0.248553	0	5	124				
INPP4B	8821	broad.mit.edu	37	4	143007357	143007357	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:143007357G>T	ENST00000513000.1	-	25	2860	c.2427C>A	c.(2425-2427)ctC>ctA	p.L809L	INPP4B_ENST00000508116.1_Silent_p.L809L|INPP4B_ENST00000262992.4_Silent_p.L809L|INPP4B_ENST00000308502.4_Silent_p.L809L|INPP4B_ENST00000509777.1_Silent_p.L809L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	809					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TATTTTGAAGGAGATTTTCTA	0.338																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2425-2427)ctC>ctA		inositol polyphosphate-4-phosphatase, type II, 105kDa							91.0	95.0	94.0					4																	143007357		2201	4298	6499	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143007357G>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2427C>A	4.37:g.143007357G>T						INPP4B_ENST00000508116.1_Silent_p.L809L|INPP4B_ENST00000262992.4_Silent_p.L809L|INPP4B_ENST00000308502.4_Silent_p.L809L|INPP4B_ENST00000509777.1_Silent_p.L809L	p.L809L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			25	2860	-	all_hematologic(180;0.158)		809					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.2427C>A	CCDS3757.1																																																																																				0.338	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		18	37	1	0	2.4624e-09	0.575678	2.58875e-09	18	37				
CSMD1	64478	broad.mit.edu	37	8	3855604	3855604	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:3855604G>A	ENST00000520002.1	-	5	1194	c.639C>T	c.(637-639)cgC>cgT	p.R213R	CSMD1_ENST00000602723.1_Silent_p.R213R|CSMD1_ENST00000539096.1_Silent_p.R213R|CSMD1_ENST00000400186.3_Silent_p.R213R|CSMD1_ENST00000542608.1_Silent_p.R213R|CSMD1_ENST00000537824.1_Silent_p.R213R|CSMD1_ENST00000602557.1_Silent_p.R213R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	213	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.R213R(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTGGTCCCGCGTAAGGTTC	0.567																																						ENST00000602557.1																			1	Substitution - coding silent(1)	p.R213R(1)	large_intestine(1)	breast(20)|large_intestine(5)	25						c.(637-639)cgC>cgT		CUB and Sushi multiple domains 1							32.0	34.0	33.0					8																	3855604		2083	4252	6335	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3855604G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.639C>T	8.37:g.3855604G>A						CSMD1_ENST00000520002.1_Silent_p.R213R|CSMD1_ENST00000539096.1_Silent_p.R213R|CSMD1_ENST00000542608.1_Silent_p.R213R|CSMD1_ENST00000602723.1_Silent_p.R213R|CSMD1_ENST00000537824.1_Silent_p.R213R|CSMD1_ENST00000400186.3_Silent_p.R213R	p.R213R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	5	1194	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	213			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.639C>T																																																																																					0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	10	0	0	0	0.150653	0	4	10				
MSRB3	253827	broad.mit.edu	37	12	65857074	65857074	+	Missense_Mutation	SNP	C	C	T	rs144038296	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:65857074C>T	ENST00000355192.3	+	6	677	c.551C>T	c.(550-552)cCg>cTg	p.P184L	MSRB3_ENST00000308259.5_Missense_Mutation_p.P177L|MSRB3_ENST00000535664.1_Missense_Mutation_p.P177L	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	184					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTCGCCAGCCCGGCCCAGGCA	0.483																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(529-531)cCg>cTg		methionine sulfoxide reductase B3		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	54.0	51.0	52.0		530,530,530,551	4.6	0.6	12	dbSNP_134	52	0,8600		0,0,4300	yes	missense,missense,missense,missense	MSRB3	NM_001031679.2,NM_001193460.1,NM_001193461.1,NM_198080.3	98,98,98,98	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign	177/186,177/186,177/186,184/193	65857074	4,13002	2203	4300	6503	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65857074C>T	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.551C>T	12.37:g.65857074C>T	ENSP00000347324:p.Pro184Leu					MSRB3_ENST00000355192.3_Missense_Mutation_p.P184L|MSRB3_ENST00000535664.1_Missense_Mutation_p.P177L	p.P177L	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	804	+			184					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.530C>T	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210388	0.39003	9.08E-4	0.0	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.64085	-0.08;-0.07;-0.07	5.52	4.62	0.57501	.	0.690842	0.15040	N	0.283930	T	0.33498	0.0865	N	0.04260	-0.245	0.58432	D	0.999995	P;P	0.48640	0.913;0.683	B;B	0.31191	0.125;0.084	T	0.22138	-1.0225	9	.	.	.	-6.0314	14.4155	0.67148	0.1478:0.8521:0.0:0.0	.	184;177	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	184;177;177	ENSP00000347324:P184L;ENSP00000312274:P177L;ENSP00000441650:P177L	.	P	+	2	0	MSRB3	64143341	0.921000	0.31238	0.568000	0.28447	0.082000	0.17680	2.435000	0.44811	1.471000	0.48121	0.655000	0.94253	CCG		0.483	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		5	94	0	0	0	0.184627	0	5	94				
KIAA1324L	222223	broad.mit.edu	37	7	86542277	86542277	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:86542277G>T	ENST00000450689.2	-	14	2160	c.1975C>A	c.(1975-1977)Cct>Act	p.P659T	KIAA1324L_ENST00000444627.1_Silent_p.G612G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P492T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P419T|KIAA1324L_ENST00000490995.1_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	659						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTACTCCCAGGCCCGCATGGA	0.438																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1975-1977)Cct>Act		KIAA1324-like							90.0	79.0	82.0					7																	86542277		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86542277G>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1975C>A	7.37:g.86542277G>T	ENSP00000413445:p.Pro659Thr					KIAA1324L_ENST00000444627.1_Silent_p.G612G|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P419T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P492T	p.P659T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			14	2160	-	Esophageal squamous(14;0.0058)		659					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1975C>A	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.622890|4.622890	0.87460|0.87460	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000416314	.|T;T;T	.|0.63913	.|-0.07;-0.07;-0.07	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81460|0.81460	0.4827|0.4827	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.999;0.999	.|D;D;D	.|0.70487	.|0.969;0.913;0.913	T|T	0.80643|0.80643	-0.1291|-0.1291	5|10	.|0.39692	.|T	.|0.17	.|.	19.0872|19.0872	0.93209|0.93209	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|659;419;492	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	D|T	619|659;419;492	.|ENSP00000413445:P659T;ENSP00000297222:P419T;ENSP00000402390:P492T	.|ENSP00000297222:P419T	A|P	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86380213|86380213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.230000|9.230000	0.95299|0.95299	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		29	56	1	0	3.99451e-17	0.740014	4.30178e-17	29	56				
SSH3	54961	broad.mit.edu	37	11	67075160	67075160	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:67075160C>T	ENST00000308127.4	+	7	921	c.743C>T	c.(742-744)gCt>gTt	p.A248V	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.A248V|SSH3_ENST00000308298.7_Missense_Mutation_p.A248V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	248					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGTGGACGGCTATGGCCGAC	0.652																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(742-744)gCt>gTt		slingshot protein phosphatase 3							36.0	40.0	39.0					11																	67075160		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075160C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.743C>T	11.37:g.67075160C>T	ENSP00000312081:p.Ala248Val					SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Missense_Mutation_p.A248V|SSH3_ENST00000376757.5_Missense_Mutation_p.A248V	p.A248V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		7	921	+			248					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.743C>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840812	0.51057	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.35421	3.66;1.31;3.75	4.5	3.59	0.41128	.	0.000000	0.64402	D	0.000012	T	0.36138	0.0956	L	0.61218	1.895	0.50171	D	0.99985	P;B	0.51537	0.946;0.243	B;B	0.43155	0.41;0.168	T	0.23511	-1.0186	10	0.52906	T	0.07	-11.1636	10.3047	0.43674	0.0:0.9042:0.0:0.0958	.	102;248	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	V	248	ENSP00000312081:A248V;ENSP00000310055:A248V;ENSP00000365948:A248V	ENSP00000312081:A248V	A	+	2	0	SSH3	66831736	0.992000	0.36948	1.000000	0.80357	0.563000	0.35712	1.599000	0.36751	1.040000	0.40099	0.462000	0.41574	GCT		0.652	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		13	28	0	0	0	0.639603	0	13	28				
IQCK	124152	broad.mit.edu	37	16	19775436	19775436	+	Splice_Site	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:19775436T>G	ENST00000320394.6	+	7	1304		c.e7+2		IQCK_ENST00000433597.2_Splice_Site|CTD-2380F24.1_ENST00000565817.1_RNA|CTD-2380F24.1_ENST00000568843.1_RNA|IQCK_ENST00000562762.1_Splice_Site|CTD-2380F24.1_ENST00000564490.1_RNA|IQCK_ENST00000564186.1_Splice_Site|IQCK_ENST00000541926.1_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AAAGCAACAGTGAGTATGACA	0.388																																						ENST00000320394.6																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e7+2		IQ motif containing K							69.0	66.0	67.0					16																	19775436		2197	4300	6497	SO:0001630	splice_region_variant	124152							g.chr16:19775436T>G	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.605+2T>G	16.37:g.19775436T>G						IQCK_ENST00000541926.1_Splice_Site|CTD-2380F24.1_ENST00000565817.1_RNA|CTD-2380F24.1_ENST00000564490.1_RNA|IQCK_ENST00000433597.2_Splice_Site|IQCK_ENST00000564186.1_Splice_Site|CTD-2380F24.1_ENST00000568843.1_RNA|IQCK_ENST00000562762.1_Splice_Site		NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN			7	1304	+								B2RDU0|O43327|Q8NFF4	Splice_Site	SNP	ENST00000320394.6	37		CCDS10580.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371747	0.24857	.	.	ENSG00000174628	ENST00000320394;ENST00000541926;ENST00000433597	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6471	0.62288	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCK	19682937	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	4.694000	0.61760	2.152000	0.67230	0.528000	0.53228	.		0.388	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	Intron	14	33	0	0	0	0.457914	0	14	33				
GP2	2813	broad.mit.edu	37	16	20327330	20327330	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:20327330T>C	ENST00000381362.4	-	10	1534	c.1458A>G	c.(1456-1458)gtA>gtG	p.V486V	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Silent_p.V339V|GP2_ENST00000341642.5_Silent_p.V336V|GP2_ENST00000302555.5_Silent_p.V483V	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	486					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGATGGCCGGTACTTCACTGC	0.478																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1447-1449)gtA>gtG		glycoprotein 2 (zymogen granule membrane)							119.0	110.0	113.0					16																	20327330		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327330T>C	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1458A>G	16.37:g.20327330T>C						GP2_ENST00000381360.5_Silent_p.V339V|GP2_ENST00000381362.4_Silent_p.V486V|GP2_ENST00000341642.5_Silent_p.V336V	p.V483V			P55259	GP2_HUMAN			9	1598	-			486			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.1449A>G	CCDS42128.1																																																																																				0.478	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		7	121	0	0	0	0.248553	0	7	121				
SLC6A10P	386757	broad.mit.edu	37	16	32893939	32893939	+	RNA	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:32893939C>A	ENST00000330048.5	-	0	1318					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GTCTTCATGGCGGAAGATCTC	0.597																																						ENST00000330048.5																			0																																																			386757							g.chr16:32893939C>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893939C>A								NR_003083.2						0	1318	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.597	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			7	224	1	0	8.16721e-17	0.750413	8.78419e-17	7	224				
LNX2	222484	broad.mit.edu	37	13	28155884	28155884	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs112460239		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:28155884C>T	ENST00000316334.3	-	0	86					NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2						protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TTCCACTTCACGCTTGGTTTC	0.368																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31								ligand of numb-protein X 2		G		1,4405		0,1,2202	81.0	69.0	73.0			-1.4	0.0	13	dbSNP_132	73	0,8598		0,0,4299	no	utr-5	LNX2	NM_153371.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077			28155884	1,13003	2203	4299	6502			222484						zinc ion binding	g.chr13:28155884C>T	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.-44G>A	13.37:g.28155884C>T								NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	0	86	-		Lung SC(185;0.0156)						Q5W0P0|Q6ZMH2|Q96SH4	Translation_Start_Site	SNP	ENST00000316334.3	37		CCDS9323.1																																																																																				0.368	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			28	59	0	0	0	0.681144	0	28	59				
RMND5B	64777	broad.mit.edu	37	5	177575020	177575020	+	Missense_Mutation	SNP	G	G	A	rs200559247	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:177575020G>A	ENST00000515098.1	+	12	1520	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	RMND5B_ENST00000313386.4_Missense_Mutation_p.R390H|RMND5B_ENST00000542098.1_Missense_Mutation_p.R377H			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	390								p.R390H(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGAAACGCATCATATTC	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		20361	0.004		0.0	False		,,,				2504	0.0					ENST00000515098.1																			1	Substitution - Missense(1)	p.R390H(1)	large_intestine(1)	endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(1168-1170)cGc>cAc		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							86.0	81.0	83.0					5																	177575020		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177575020G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.1169G>A	5.37:g.177575020G>A	ENSP00000420875:p.Arg390His					RMND5B_ENST00000313386.4_Missense_Mutation_p.R390H|RMND5B_ENST00000542098.1_Missense_Mutation_p.R377H	p.R390H			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1520	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	390					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.1169G>A	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981874	0.53827	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.51	5.51	0.81932	.	0.063089	0.64402	D	0.000002	T	0.62036	0.2395	M	0.61703	1.905	0.47547	D	0.999451	D;D;B	0.64830	0.989;0.994;0.221	B;P;B	0.50617	0.443;0.646;0.023	T	0.65928	-0.6049	9	0.66056	D	0.02	-23.0526	10.3737	0.44068	0.0887:0.0:0.9113:0.0	.	377;377;390	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	H	390;390;377	.	ENSP00000320623:R390H	R	+	2	0	RMND5B	177507626	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.490000	0.60319	2.595000	0.87683	0.563000	0.77884	CGC		0.532	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		48	91	0	0	0	0.870114	0	48	91				
FAM35A	54537	broad.mit.edu	37	10	88911131	88911131	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:88911131T>C	ENST00000298784.1	+	3	134	c.20T>C	c.(19-21)gTc>gCc	p.V7A	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.V7A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	7										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GGATCTCAAGTCCACATTTTT	0.338																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(19-21)gTc>gCc		family with sequence similarity 35, member A							35.0	35.0	35.0					10																	88911131		2196	4300	6496	SO:0001583	missense	54537							g.chr10:88911131T>C	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.20T>C	10.37:g.88911131T>C	ENSP00000298784:p.Val7Ala					FAM35A_ENST00000298784.1_Missense_Mutation_p.V7A	p.V7A			Q86V20	FA35A_HUMAN			3	134	+			7					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.20T>C	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	19.75	3.886339	0.72410	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.29917	1.56;1.55;1.55	4.17	4.17	0.49024	.	0.098775	0.34314	N	0.004070	T	0.41259	0.1151	L	0.52573	1.65	0.29341	N	0.866043	D	0.58268	0.982	P	0.55615	0.78	T	0.37103	-0.9720	10	0.72032	D	0.01	-4.6393	12.0026	0.53240	0.0:0.0:0.0:1.0	.	7	Q86V20	FA35A_HUMAN	A	7	ENSP00000298786:V7A;ENSP00000298784:V7A;ENSP00000351064:V7A	ENSP00000298784:V7A	V	+	2	0	FAM35A	88901111	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.971000	0.63749	1.759000	0.51996	0.333000	0.21579	GTC		0.338	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		37	69	0	0	0	0.812448	0	37	69				
JADE3	9767	broad.mit.edu	37	X	46913820	46913820	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:46913820A>G	ENST00000218343.4	+	9	1531	c.1233A>G	c.(1231-1233)gtA>gtG	p.V411V	PHF16_ENST00000397189.1_Silent_p.V411V	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ATTCCTTGGTACGAGTGGAAG	0.522																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(1231-1233)gtA>gtG									69.0	65.0	66.0					X																	46913820		2203	4300	6503	SO:0001819	synonymous_variant	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913820A>G																												ENST00000218343.4:c.1233A>G	X.37:g.46913820A>G						PHF16_ENST00000397189.1_Silent_p.V411V	p.V411V	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			9	1531	+			411						Silent	SNP	ENST00000218343.4	37	c.1233A>G	CCDS14271.1																																																																																				0.522	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			30	14	0	0	0	0.804634	0	30	14				
CRYM	1428	broad.mit.edu	37	16	21272583	21272583	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:21272583T>C	ENST00000219599.3	-	9	1137	c.872A>G	c.(871-873)aAg>aGg	p.K291R	CRYM_ENST00000396023.2_Missense_Mutation_p.K291R|CRYM_ENST00000543948.1_Missense_Mutation_p.K291R|CRYM_ENST00000415987.2_Missense_Mutation_p.K249R	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	291					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		ACCCAAAGACTTGAACACGGT	0.512																																						ENST00000219599.3																			0				large_intestine(1)|lung(3)	4						c.(871-873)aAg>aGg		crystallin, mu	Levothyroxine(DB00451)						164.0	135.0	145.0					16																	21272583		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21272583T>C		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.872A>G	16.37:g.21272583T>C	ENSP00000219599:p.Lys291Arg					CRYM_ENST00000415987.2_Missense_Mutation_p.K249R|CRYM_ENST00000543948.1_Missense_Mutation_p.K291R|CRYM_ENST00000396023.2_Missense_Mutation_p.K291R	p.K291R	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	9	1137	-			291					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.872A>G	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888423	0.91814	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	D;D;D;T	0.81739	-1.53;-1.53;-1.53;-1.49	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90566	0.7043	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91985	0.5598	10	0.66056	D	0.02	-21.181	12.9854	0.58588	0.0:0.0:0.0:1.0	.	291	Q14894	CRYM_HUMAN	R	291;291;291;249	ENSP00000440227:K291R;ENSP00000219599:K291R;ENSP00000379341:K291R;ENSP00000390928:K249R	ENSP00000219599:K291R	K	-	2	0	CRYM	21180084	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.140000	0.77322	2.009000	0.58944	0.533000	0.62120	AAG		0.512	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			36	62	0	0	0	0.827153	0	36	62				
XPOT	11260	broad.mit.edu	37	12	64812734	64812734	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:64812734T>C	ENST00000332707.5	+	6	878	c.349T>C	c.(349-351)Tat>Cat	p.Y117H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	117	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTACAGAGTATCTCACTAA	0.438																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(349-351)Tat>Cat		exportin, tRNA							114.0	108.0	110.0					12																	64812734		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812734T>C	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.349T>C	12.37:g.64812734T>C	ENSP00000327821:p.Tyr117His						p.Y117H	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	878	+			117			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.349T>C	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522541	0.85600	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	T;T	0.54279	0.58;0.58	4.78	4.78	0.61160	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.063176	0.64402	D	0.000004	T	0.76478	0.3993	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.82032	-0.0658	9	.	.	.	.	14.633	0.68671	0.0:0.0:0.0:1.0	.	117	O43592	XPOT_HUMAN	H	117	ENSP00000327821:Y117H;ENSP00000383722:Y117H	.	Y	+	1	0	XPOT	63099001	1.000000	0.71417	0.984000	0.44739	0.894000	0.52154	7.975000	0.88055	1.918000	0.55548	0.455000	0.32223	TAT		0.438	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	179	0	0	0	0.184627	0	4	179				
CPEB4	80315	broad.mit.edu	37	5	173370038	173370038	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:173370038A>G	ENST00000265085.5	+	4	2722	c.1268A>G	c.(1267-1269)tAt>tGt	p.Y423C	CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.Y406C|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000522336.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	423					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAAGGACATATGGGCGAAGG	0.348																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1267-1269)tAt>tGt		cytoplasmic polyadenylation element binding protein 4							186.0	194.0	191.0					5																	173370038		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173370038A>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1268A>G	5.37:g.173370038A>G	ENSP00000265085:p.Tyr423Cys					CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Intron|CPEB4_ENST00000334035.5_Missense_Mutation_p.Y406C|CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000517880.1_Intron	p.Y423C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	2722	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	423					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1268A>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332289	0.81801	.	.	ENSG00000113742	ENST00000265085;ENST00000334035	T;T	0.48201	0.82;0.82	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.971	T	0.64356	-0.6427	10	0.56958	D	0.05	-18.6823	16.2484	0.82467	1.0:0.0:0.0:0.0	.	406;423	Q17RY0-2;Q17RY0	.;CPEB4_HUMAN	C	423;406	ENSP00000265085:Y423C;ENSP00000334533:Y406C	ENSP00000265085:Y423C	Y	+	2	0	CPEB4	173302644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.248000	0.95456	2.291000	0.77112	0.533000	0.62120	TAT		0.348	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		99	191	0	0	0	0.870114	0	99	191				
RNF43	54894	broad.mit.edu	37	17	56492887	56492887	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:56492887T>C	ENST00000584437.1	-	1	2007	c.52A>G	c.(52-54)Atg>Gtg	p.M18V	RNF43_ENST00000583753.1_Missense_Mutation_p.M18V|RNF43_ENST00000407977.2_Missense_Mutation_p.M18V|RNF43_ENST00000500597.2_Missense_Mutation_p.M18V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.M18V|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43	18					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGTAGCCATCAGCAGCCAG	0.557																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(52-54)Atg>Gtg		ring finger protein 43							38.0	36.0	36.0					17																	56492887		2202	4299	6501	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492887T>C		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.52A>G	17.37:g.56492887T>C	ENSP00000463069:p.Met18Val					RNF43_ENST00000500597.2_Missense_Mutation_p.M18V|RNF43_ENST00000407977.2_Missense_Mutation_p.M18V|RNF43_ENST00000577716.1_Missense_Mutation_p.M18V|RNF43_ENST00000583753.1_Missense_Mutation_p.M18V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron	p.M18V			Q68DV7	RNF43_HUMAN			1	2007	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		18					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.52A>G	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923968	0.73213	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.12984	3.06;2.63	5.69	5.69	0.88448	.	0.075495	0.56097	D	0.000023	T	0.17534	0.0421	N	0.14661	0.345	0.39483	D	0.967912	D;P	0.55385	0.971;0.951	P;P	0.56042	0.79;0.622	T	0.06899	-1.0801	10	0.49607	T	0.09	-12.2112	15.4289	0.75077	0.0:0.0:0.0:1.0	.	18;18	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	V	18	ENSP00000385328:M18V;ENSP00000441969:M18V	ENSP00000385328:M18V	M	-	1	0	RNF43	53847886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.287000	0.59001	2.291000	0.77112	0.533000	0.62120	ATG		0.557	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		5	22	0	0	0	0.639603	0	5	22				
THTPA	79178	broad.mit.edu	37	14	24026241	24026241	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24026241T>C	ENST00000288014.6	+	1	1011	c.275T>C	c.(274-276)cTc>cCc	p.L92P	THTPA_ENST00000554789.1_Missense_Mutation_p.L92P|THTPA_ENST00000554970.1_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.L92P|THTPA_ENST00000556015.1_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	92	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGCCCAACTCTGTAAGGTG	0.577																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(274-276)cTc>cCc		thiamine triphosphatase	Thiamine(DB00152)						96.0	88.0	91.0					14																	24026241		2203	4300	6503	SO:0001583	missense	79178				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026241T>C	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.275T>C	14.37:g.24026241T>C	ENSP00000288014:p.Leu92Pro					THTPA_ENST00000556015.1_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.L92P|THTPA_ENST00000554970.1_Missense_Mutation_p.L92P	p.L92P			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	1011	+	all_cancers(95;0.000251)		92					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.275T>C	CCDS32053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.310483|4.310483	0.81358|0.81358	.|.	.|.	ENSG00000157306|ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789|ENST00000556545	T;T;T;T;T;T|.	0.52983|.	0.87;0.87;0.87;0.64;0.64;0.64|.	5.38|5.38	5.38|5.38	0.77491|0.77491	CYTH domain (2);CYTH-like domain (1);|.	0.129968|.	0.49916|.	D|.	0.000122|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.988;0.994|.	T|T	0.74751|0.74751	-0.3559|-0.3559	10|5	0.62326|.	D|.	0.03|.	-6.1545|-6.1545	13.3999|13.3999	0.60876|0.60876	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	92;92|.	G3V4J3;Q9BU02|.	.;THTPA_HUMAN|.	P|P	92|12	ENSP00000384580:L92P;ENSP00000288014:L92P;ENSP00000452281:L92P;ENSP00000451835:L92P;ENSP00000452465:L92P;ENSP00000450459:L92P|.	ENSP00000288014:L92P|.	L|S	+|+	2|1	0|0	THTPA|THTPA	23096081|23096081	0.104000|0.104000	0.21937|0.21937	0.986000|0.986000	0.45419|0.45419	0.943000|0.943000	0.58893|0.58893	1.849000|1.849000	0.39318|0.39318	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.577	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			28	74	0	0	0	0.750413	0	28	74				
CUBN	8029	broad.mit.edu	37	10	17164806	17164806	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:17164806A>G	ENST00000377833.4	-	6	646	c.581T>C	c.(580-582)aTg>aCg	p.M194T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	194	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTAACTTCCCATTGTATTAAC	0.368																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(580-582)aTg>aCg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	56.0	59.0					10																	17164806		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17164806A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.581T>C	10.37:g.17164806A>G	ENSP00000367064:p.Met194Thr						p.M194T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			6	646	-			194			EGF-like 2; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.581T>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	3.532	-0.095500	0.07010	.	.	ENSG00000107611	ENST00000377833;ENST00000433666	D;D	0.91686	-2.89;-2.89	5.22	-2.01	0.07410	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	2.038200	0.02936	N	0.139880	T	0.82153	0.4975	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.21708	0.036	T	0.70802	-0.4773	10	0.30854	T	0.27	.	6.003	0.19531	0.3163:0.0:0.5631:0.1206	.	194	O60494	CUBN_HUMAN	T	194;81	ENSP00000367064:M194T;ENSP00000415970:M81T	ENSP00000367064:M194T	M	-	2	0	CUBN	17204812	0.843000	0.29541	0.001000	0.08648	0.607000	0.37147	1.873000	0.39558	-0.805000	0.04404	0.533000	0.62120	ATG		0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	106	0	0	0	0.307466	0	7	106				
SPTBN4	57731	broad.mit.edu	37	19	41029412	41029412	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:41029412C>T	ENST00000352632.3	+	17	3809	c.3723C>T	c.(3721-3723)caC>caT	p.H1241H	SPTBN4_ENST00000392025.1_5'Flank|SPTBN4_ENST00000338932.3_Silent_p.H1241H|SPTBN4_ENST00000344104.3_Silent_p.H1241H|SPTBN4_ENST00000598249.1_Silent_p.H1241H|SPTBN4_ENST00000595535.1_Silent_p.H1241H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1241					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAACAGCACCGTGACTTTC	0.632																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3721-3723)caC>caT		spectrin, beta, non-erythrocytic 4							64.0	49.0	54.0					19																	41029412		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41029412C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3723C>T	19.37:g.41029412C>T						SPTBN4_ENST00000595535.1_Silent_p.H1241H|SPTBN4_ENST00000344104.3_Silent_p.H1241H|SPTBN4_ENST00000338932.3_Silent_p.H1241H|SPTBN4_ENST00000598249.1_Silent_p.H1241H	p.H1241H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	3809	+			1241					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.3723C>T	CCDS12559.1																																																																																				0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			19	31	0	0	0	0.557998	0	19	31				
TRGV2	6974	broad.mit.edu	37	7	38402604	38402604	+	RNA	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:38402604T>G	ENST00000426402.2	-	0	404									T cell receptor gamma variable 2																		AACCTTGGAGTTGTAGGAGTC	0.458																																						ENST00000426402.2																			0																				108.0	100.0	102.0					7																	38402604		1928	4145	6073			6974							g.chr7:38402604T>G	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402604T>G														0	404	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.458	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		19	122	0	0	0	0.740014	0	19	122				
SLC26A7	115111	broad.mit.edu	37	8	92378916	92378916	+	Missense_Mutation	SNP	T	T	C	rs370346859		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:92378916T>C	ENST00000276609.3	+	14	1836	c.1597T>C	c.(1597-1599)Tgt>Cgt	p.C533R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.C533R|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.C533R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGAAAATGCCTGTAATCAGCC	0.333																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1597-1599)Tgt>Cgt		solute carrier family 26 (anion exchanger), member 7		T	ARG/CYS,ARG/CYS	0,4406		0,0,2203	96.0	99.0	98.0		1597,1597	-2.3	0.0	8		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC26A7	NM_052832.2,NM_134266.1	180,180	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	533/657,533/664	92378916	1,13005	2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378916T>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1597T>C	8.37:g.92378916T>C	ENSP00000276609:p.Cys533Arg					SLC26A7_ENST00000523719.1_Missense_Mutation_p.C533R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.C533R|SLC26A7_ENST00000520249.1_3'UTR	p.C533R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		14	1836	+			533			STAS.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1597T>C	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	0.333	-0.955183	0.02285	0.0	1.16E-4	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.87729	-2.29;-2.29;-2.29	5.12	-2.29	0.06805	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.959419	0.08635	N	0.916499	T	0.73822	0.3636	L	0.29908	0.895	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.19666	0.015;0.026	T	0.55835	-0.8078	10	0.12766	T	0.61	.	3.57	0.07913	0.3615:0.0:0.2395:0.399	.	533;533	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	R	533	ENSP00000428849:C533R;ENSP00000276609:C533R;ENSP00000309504:C533R	ENSP00000276609:C533R	C	+	1	0	SLC26A7	92448092	0.000000	0.05858	0.000000	0.03702	0.658000	0.38924	0.358000	0.20216	-0.704000	0.05042	-0.339000	0.08088	TGT		0.333	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			97	191	0	0	0	0.870114	0	97	191				
SPRR3	6707	broad.mit.edu	37	1	152975911	152975911	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:152975911A>G	ENST00000295367.4	+	2	457	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	SPRR3_ENST00000542696.1_Missense_Mutation_p.T131A|SPRR3_ENST00000331860.3_Missense_Mutation_p.T139A	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	139	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGGATACACCAAAGTTCC	0.527																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(415-417)Acc>Gcc		small proline-rich protein 3							89.0	79.0	83.0					1																	152975911		2203	4300	6503	SO:0001583	missense	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975911A>G	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.415A>G	1.37:g.152975911A>G	ENSP00000295367:p.Thr139Ala					SPRR3_ENST00000542696.1_Missense_Mutation_p.T131A|SPRR3_ENST00000295367.4_Missense_Mutation_p.T139A	p.T139A	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	565	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		139			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	c.415A>G	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351068	0.24512	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	3.67	-3.04	0.05412	.	.	.	.	.	T	0.02807	0.0084	L	0.39898	1.24	0.09310	N	1	B;B	0.25206	0.12;0.062	B;B	0.23574	0.047;0.033	T	0.42649	-0.9439	9	0.27082	T	0.32	.	11.6168	0.51094	0.4012:0.5987:0.0:0.0	.	131;139	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	A	139;139;139;131	ENSP00000330391:T139A;ENSP00000402016:T139A;ENSP00000295367:T139A;ENSP00000441477:T131A	ENSP00000295367:T139A	T	+	1	0	SPRR3	151242535	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.676000	0.05221	-0.249000	0.09569	0.416000	0.27883	ACC		0.527	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		16	37	0	0	0	0.479597	0	16	37				
HECW2	57520	broad.mit.edu	37	2	197157345	197157345	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:197157345T>C	ENST00000260983.3	-	14	3126	c.2944A>G	c.(2944-2946)Aac>Gac	p.N982D	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.N626D	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	982	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTTTGTTCGCGAACATG	0.542																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2944-2946)Aac>Gac		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							206.0	160.0	176.0					2																	197157345		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197157345T>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2944A>G	2.37:g.197157345T>C	ENSP00000260983:p.Asn982Asp					HECW2_ENST00000409111.1_Missense_Mutation_p.N626D	p.N982D	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			14	3126	-			982			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2944A>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	6.111	0.388792	0.11581	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.82803	-1.65;-1.65	5.09	3.95	0.45737	WW/Rsp5/WWP (2);	0.047265	0.85682	D	0.000000	T	0.67887	0.2941	N	0.13140	0.3	0.51767	D	0.999938	P	0.52463	0.953	P	0.47603	0.551	T	0.68554	-0.5378	10	0.02654	T	1	.	7.8472	0.29433	0.0:0.158:0.0:0.842	.	982	Q9P2P5	HECW2_HUMAN	D	626;982	ENSP00000386775:N626D;ENSP00000260983:N982D	ENSP00000260983:N982D	N	-	1	0	HECW2	196865590	1.000000	0.71417	0.858000	0.33744	0.994000	0.84299	5.790000	0.69038	0.982000	0.38575	0.533000	0.62120	AAC		0.542	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		43	115	0	0	0	0.840704	0	43	115				
TMOD4	29765	broad.mit.edu	37	1	151147019	151147019	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151147019A>G	ENST00000416280.2	-	3	227	c.128T>C	c.(127-129)aTg>aCg	p.M43T	VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000601585.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCAGGAGCATGTTCTTAGG	0.562																																						ENST00000416280.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(127-129)aTg>aCg		tropomodulin 4 (muscle)							140.0	136.0	138.0					1																	151147019		2203	4300	6503	SO:0001583	missense	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151147019A>G	AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.128T>C	1.37:g.151147019A>G	ENSP00000414180:p.Met43Thr						p.M43T			Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	227	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		84					B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Missense_Mutation	SNP	ENST00000416280.2	37	c.128T>C		.	.	.	.	.	.	.	.	.	.	.	15.30	2.792369	0.50102	.	.	ENSG00000163157	ENST00000295314;ENST00000416280;ENST00000441701	T;T;T	0.27890	1.64;1.64;1.64	5.88	5.88	0.94601	.	0.244478	0.49916	D	0.000131	T	0.04861	0.0131	N	0.00841	-1.15	0.80722	D	1	B;B	0.23316	0.083;0.002	B;B	0.21917	0.037;0.003	T	0.23476	-1.0187	10	0.31617	T	0.26	-15.6905	13.801	0.63199	1.0:0.0:0.0:0.0	.	43;43	B7Z6N9;Q9NZQ9	.;TMOD4_HUMAN	T	43	ENSP00000295314:M43T;ENSP00000414180:M43T;ENSP00000406333:M43T	ENSP00000295314:M43T	M	-	2	0	TMOD4	149413643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.604000	0.61112	2.252000	0.74401	0.459000	0.35465	ATG		0.562	TMOD4-201	KNOWN	basic	protein_coding	protein_coding				112	195	0	0	0	0.870114	0	112	195				
FLAD1	80308	broad.mit.edu	37	1	154965266	154965266	+	Intron	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154965266A>G	ENST00000292180.3	+	6	1950				LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Silent_p.*447*|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368428.1_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1						FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCGAGGGTAAGGGTATTAGG	0.522																																						ENST00000368432.1																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(1339-1341)taA>taG		flavin adenine dinucleotide synthetase 1							127.0	123.0	124.0					1																	154965266		2203	4300	6503	SO:0001627	intron_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154965266A>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1628+4A>G	1.37:g.154965266A>G						FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000315144.10_Intron	p.*447*	NM_001184891.1	NP_001171820.1	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		7	1518	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		0			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	c.1341A>G	CCDS1078.1																																																																																				0.522	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		57	143	0	0	0	0.870114	0	57	143				
SMARCC1	6599	broad.mit.edu	37	3	47677513	47677513	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:47677513T>C	ENST00000254480.5	-	23	2609	c.2490A>G	c.(2488-2490)tcA>tcG	p.S830S	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	830	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCAAATTACCTGATTTGGTAT	0.323																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.e23+1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							180.0	167.0	171.0					3																	47677513		2203	4300	6503	SO:0001630	splice_region_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47677513T>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2491+1A>G	3.37:g.47677513T>C						SMARCC1_ENST00000425518.1_5'UTR	p.S830_splice	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	23	2609	-			830			Glu-rich.		Q17RS0|Q6P172|Q8IWH2	Splice_Site	SNP	ENST00000254480.5	37	c.2491_splice	CCDS2758.1																																																																																				0.323	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		Silent	40	123	0	0	0	0.827153	0	40	123				
EP300	2033	broad.mit.edu	37	22	41574312	41574312	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:41574312A>G	ENST00000263253.7	+	31	7816	c.6597A>G	c.(6595-6597)ccA>ccG	p.P2199P	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2199	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGCAGGGCCAGGAATAGGCC	0.537			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6595-6597)ccA>ccG		E1A binding protein p300							63.0	60.0	61.0					22																	41574312		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574312A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6597A>G	22.37:g.41574312A>G						RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.P2199P	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7816	+			2199			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.6597A>G	CCDS14010.1																																																																																				0.537	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		22	17	0	0	0	0.592651	0	22	17				
KRT2	3849	broad.mit.edu	37	12	53045390	53045390	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:53045390A>G	ENST00000309680.3	-	1	558	c.537T>C	c.(535-537)cgT>cgC	p.R179R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	179	Coil 1A.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGATCTGCTCACGCTCTTGGG	0.522																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(535-537)cgT>cgC		keratin 2							151.0	142.0	145.0					12																	53045390		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045390A>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.537T>C	12.37:g.53045390A>G							p.R179R	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	558	-			179			Coil 1A.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.537T>C	CCDS8835.1																																																																																				0.522	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		16	200	0	0	0	0.575678	0	16	200				
LINC00886	730091	broad.mit.edu	37	3	156528100	156528100	+	lincRNA	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:156528100T>C	ENST00000472943.1	-	0	148					NR_038387.1				long intergenic non-protein coding RNA 886																		CTTAATAACATCTGCCTTCCT	0.483																																						ENST00000472943.1																			0																																																			730091							g.chr3:156528100T>C			3q25.31	2013-05-17			ENSG00000240875	ENSG00000240875		"""Long non-coding RNAs"""	48572	non-coding RNA	RNA, long non-coding							Standard	NR_038387		Approved				OTTHUMG00000158647		3.37:g.156528100T>C								NR_038387.1						0	148	-									RNA	SNP	ENST00000472943.1	37																																																																																						0.483	LINC00886-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351622.1			112	36	0	0	0	0.870114	0	112	36				
CCDC152	100129792	broad.mit.edu	37	5	42801175	42801175	+	3'UTR	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:42801175C>T	ENST00000361970.5	+	0	2144				SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.A265T|SEPP1_ENST00000507920.1_Silent_p.Q154Q|SEPP1_ENST00000506577.1_Missense_Mutation_p.A265T|SEPP1_ENST00000514985.1_Missense_Mutation_p.A265T	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						TCTTCACTTGCTGGCATATCT	0.453																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(793-795)Gca>Aca		selenoprotein P, plasma, 1							61.0	62.0	62.0					5																	42801175		1983	4159	6142	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42801175C>T		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1292C>T	5.37:g.42801175C>T						CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.A265T|SEPP1_ENST00000511224.1_Missense_Mutation_p.A265T|SEPP1_ENST00000507920.1_Silent_p.Q154Q	p.A265T	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1049	-			265					B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	ENST00000361970.5	37	c.793G>A	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810684	0.16537	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.58	3.77	0.43336	.	1.830940	0.03680	U	0.245296	T	0.22282	0.0537	N	0.24115	0.695	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25152	-1.0140	8	0.32370	T	0.25	.	2.7979	0.05406	0.1373:0.447:0.2663:0.1494	.	.	.	.	T	265	ENSP00000420939:A265T;ENSP00000427671:A265T;ENSP00000425915:A265T;ENSP00000421626:A265T	ENSP00000425915:A265T	A	-	1	0	SEPP1	42836932	0.018000	0.18449	0.002000	0.10522	0.312000	0.27988	1.306000	0.33505	0.680000	0.31366	0.591000	0.81541	GCA		0.453	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		30	67	0	0	0	0.717897	0	30	67				
SERPINB13	5275	broad.mit.edu	37	18	61256926	61256926	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:61256926A>T	ENST00000344731.5	+	3	304	c.202A>T	c.(202-204)Ata>Tta	p.I68L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.I68L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	68					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAGCTCAAGAATAAAGGCTGA	0.403																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(202-204)Ata>Tta		serpin peptidase inhibitor, clade B (ovalbumin), member 13							75.0	65.0	68.0					18																	61256926		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61256926A>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.202A>T	18.37:g.61256926A>T	ENSP00000341584:p.Ile68Leu					SERPINB13_ENST00000269489.5_Missense_Mutation_p.I68L	p.I68L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			3	304	+			68					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.202A>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	A	0.698	-0.791919	0.02884	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	D;T;T;D	0.83992	-1.79;-1.43;-1.44;-1.54	4.51	-2.62	0.06152	Serpin domain (3);	2.970050	0.00904	N	0.002398	T	0.59404	0.2191	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53279	-0.8461	10	0.21014	T	0.42	.	4.4013	0.11388	0.3857:0.3308:0.2835:0.0	.	68;68	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	L	98;68;68;68;47	ENSP00000388300:I98L;ENSP00000269489:I68L;ENSP00000341584:I68L;ENSP00000391156:I47L	ENSP00000269489:I68L	I	+	1	0	SERPINB13	59407906	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.286000	0.18902	-0.202000	0.10268	0.533000	0.62120	ATA		0.403	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		5	51	0	0	0	0.248553	0	5	51				
GPR156	165829	broad.mit.edu	37	3	119885981	119885981	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:119885981A>G	ENST00000464295.1	-	10	2788	c.2343T>C	c.(2341-2343)acT>acC	p.T781T	GPR156_ENST00000461057.1_Silent_p.T777T|GPR156_ENST00000315843.3_Silent_p.T781T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	781						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GCTCAGGGTCAGTGTCTGATG	0.557																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2341-2343)acT>acC		G protein-coupled receptor 156							138.0	156.0	150.0					3																	119885981		2203	4300	6503	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885981A>G	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2343T>C	3.37:g.119885981A>G						GPR156_ENST00000461057.1_Silent_p.T777T|GPR156_ENST00000315843.3_Silent_p.T781T	p.T781T			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2788	-			781					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.2343T>C	CCDS2997.1																																																																																				0.557	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		6	313	0	0	0	0.307466	0	6	313				
KRT16P2	400578	broad.mit.edu	37	17	16734765	16734765	+	RNA	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:16734765C>T	ENST00000579062.1	-	0	550									keratin 16 pseudogene 2																		CTCCTTCAGGCCTTCCATCTG	0.632																																						ENST00000579062.1																			0																																																			400578							g.chr17:16734765C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734765C>T														0	550	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		22	49	0	0	0	0.693898	0	22	49				
IFNA7	3444	broad.mit.edu	37	9	21201943	21201943	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:21201943A>T	ENST00000239347.3	-	1	261	c.222T>A	c.(220-222)acT>acA	p.T74T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGATGGCTTGAGTCTTCTGGA	0.483																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(220-222)acT>acA		interferon, alpha 7							127.0	121.0	123.0					9																	21201943		2203	4300	6503	SO:0001819	synonymous_variant	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201943A>T		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.222T>A	9.37:g.21201943A>T							p.T74T	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	261	-			74					Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	c.222T>A	CCDS34995.1																																																																																				0.483	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		90	67	0	0	0	0.870114	0	90	67				
DCHS1	8642	broad.mit.edu	37	11	6646021	6646021	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:6646021C>A	ENST00000299441.3	-	20	7636	c.7225G>T	c.(7225-7227)Ggt>Tgt	p.G2409C	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2409	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGTGACCGTTGGCACCT	0.562																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7225-7227)Ggt>Tgt		dachsous cadherin-related 1							122.0	87.0	99.0					11																	6646021		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646021C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7225G>T	11.37:g.6646021C>A	ENSP00000299441:p.Gly2409Cys						p.G2409C	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	20	7636	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2409			Cadherin 23.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7225G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298486	0.81025	.	.	ENSG00000166341	ENST00000299441	T	0.54675	0.56	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000333	T	0.80374	0.4611	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84972	0.0883	10	0.87932	D	0	.	17.9533	0.89061	0.0:1.0:0.0:0.0	.	2409	Q96JQ0	PCD16_HUMAN	C	2409	ENSP00000299441:G2409C	ENSP00000299441:G2409C	G	-	1	0	DCHS1	6602597	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.931000	0.75863	2.826000	0.97356	0.561000	0.74099	GGT		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	20	1	0	0.0809354	0.387290	0.0816155	10	20				
UPRT	139596	broad.mit.edu	37	X	74520734	74520734	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:74520734G>A	ENST00000373383.4	+	6	924	c.757G>A	c.(757-759)Gtt>Att	p.V253I	UPRT_ENST00000530743.1_Missense_Mutation_p.V117I|UPRT_ENST00000373379.1_Missense_Mutation_p.V253I	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	253					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCTGTAAAGGTTCTTATAGA	0.373																																						ENST00000373379.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						c.(757-759)Gtt>Att		uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)							144.0	119.0	128.0					X																	74520734		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74520734G>A	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.757G>A	X.37:g.74520734G>A	ENSP00000362481:p.Val253Ile					UPRT_ENST00000530743.1_Missense_Mutation_p.V117I|UPRT_ENST00000373383.4_Missense_Mutation_p.V253I	p.V253I			Q96BW1	UPP_HUMAN			6	922	+			253					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.757G>A	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764989	0.90020	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91686	-2.89;-2.89;-2.89	5.44	5.44	0.79542	Phosphoribosyltransferase (1);	0.121403	0.53938	D	0.000041	D	0.95462	0.8526	M	0.76002	2.32	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.63793	0.918;0.918	D	0.95431	0.8516	10	0.52906	T	0.07	-4.5192	17.2439	0.87021	0.0:0.0:1.0:0.0	.	253;253	A8KAF9;Q96BW1	.;UPP_HUMAN	I	253;253;117	ENSP00000362481:V253I;ENSP00000362477:V253I;ENSP00000434037:V117I	ENSP00000362477:V253I	V	+	1	0	UPRT	74437459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.990000	0.93510	2.283000	0.76528	0.594000	0.82650	GTT		0.373	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		20	96	0	0	0	0.624587	0	20	96				
NFASC	23114	broad.mit.edu	37	1	204948496	204948496	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:204948496T>C	ENST00000401399.1	+	18	2184	c.1985T>C	c.(1984-1986)gTc>gCc	p.V662A	NFASC_ENST00000404907.1_Missense_Mutation_p.V658A|NFASC_ENST00000367171.4_Missense_Mutation_p.V647A|NFASC_ENST00000367170.4_Missense_Mutation_p.V662A|NFASC_ENST00000539706.1_Missense_Mutation_p.V658A|NFASC_ENST00000338586.6_Missense_Mutation_p.V662A|NFASC_ENST00000339876.6_Missense_Mutation_p.V662A|NFASC_ENST00000404076.1_Missense_Mutation_p.V641A|NFASC_ENST00000360049.4_Missense_Mutation_p.V658A|NFASC_ENST00000367172.4_Missense_Mutation_p.V662A|NFASC_ENST00000513543.1_Missense_Mutation_p.V658A|NFASC_ENST00000338515.6_Missense_Mutation_p.V662A|NFASC_ENST00000367169.4_Missense_Mutation_p.V662A			O94856	NFASC_HUMAN	neurofascin	662	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGACTACGTCGTCCAGTTT	0.512																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(1984-1986)gTc>gCc		neurofascin							93.0	92.0	92.0					1																	204948496		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948496T>C	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1985T>C	1.37:g.204948496T>C	ENSP00000385637:p.Val662Ala					NFASC_ENST00000338515.6_Missense_Mutation_p.V662A|NFASC_ENST00000404076.1_Missense_Mutation_p.V641A|NFASC_ENST00000367169.4_Missense_Mutation_p.V662A|NFASC_ENST00000513543.1_Missense_Mutation_p.V658A|NFASC_ENST00000338586.6_Missense_Mutation_p.V662A|NFASC_ENST00000401399.1_Missense_Mutation_p.V662A|NFASC_ENST00000360049.4_Missense_Mutation_p.V658A|NFASC_ENST00000339876.6_Missense_Mutation_p.V662A|NFASC_ENST00000367171.4_Missense_Mutation_p.V647A|NFASC_ENST00000404907.1_Missense_Mutation_p.V658A|NFASC_ENST00000539706.1_Missense_Mutation_p.V658A|NFASC_ENST00000367170.4_Missense_Mutation_p.V662A	p.V662A			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		19	2313	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		662			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1985T>C	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.88|12.88	2.070718|2.070718	0.36566|0.36566	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.56611	.|0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.124579	.|0.34802	.|N	.|0.003669	T|T	0.44350|0.44350	0.1289|0.1289	L|L	0.41079|0.41079	1.255|1.255	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;B;P;P	.|0.41710	.|0.413;0.029;0.145;0.125;0.76;0.654	.|B;B;B;B;B;B	.|0.37650	.|0.252;0.032;0.074;0.115;0.255;0.242	T|T	0.41805|0.41805	-0.9488|-0.9488	5|10	.|0.38643	.|T	.|0.18	.|.	14.6867|14.6867	0.69055|0.69055	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|662;673;658;647;662;658	.|O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.	P|A	632|662;647;662;662;662;662;673;658;658;662;641;662;658;658;649	.|ENSP00000356140:V662A;ENSP00000356139:V647A;ENSP00000356138:V662A;ENSP00000342128:V662A;ENSP00000344786:V662A;ENSP00000343509:V662A;ENSP00000438614:V658A;ENSP00000353154:V658A;ENSP00000356137:V662A;ENSP00000385676:V641A;ENSP00000385637:V662A;ENSP00000384061:V658A;ENSP00000425908:V658A;ENSP00000415031:V649A	.|ENSP00000295776:V673A	S|V	+|+	1|2	0|0	NFASC|NFASC	203215119|203215119	0.982000|0.982000	0.34865|0.34865	0.019000|0.019000	0.16419|0.16419	0.192000|0.192000	0.23643|0.23643	7.870000|7.870000	0.87175|0.87175	1.951000|1.951000	0.56629|0.56629	0.533000|0.533000	0.62120|0.62120	TCG|GTC		0.512	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		66	121	0	0	0	0.870114	0	66	121				
DET1	55070	broad.mit.edu	37	15	89056277	89056277	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:89056277A>G	ENST00000268148.8	-	5	1703	c.1558T>C	c.(1558-1560)Ttc>Ctc	p.F520L	DET1_ENST00000444300.1_Missense_Mutation_p.F531L|RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000564406.1_Missense_Mutation_p.F531L	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	520						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGAAAGGTGAAGGCAACAAGG	0.532																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1591-1593)Ttc>Ctc		de-etiolated homolog 1 (Arabidopsis)							85.0	83.0	83.0					15																	89056277		2006	4172	6178	SO:0001583	missense	55070					nucleus		g.chr15:89056277A>G	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1558T>C	15.37:g.89056277A>G	ENSP00000268148:p.Phe520Leu					DET1_ENST00000268148.8_Missense_Mutation_p.F520L|DET1_ENST00000444300.1_Missense_Mutation_p.F531L	p.F531L	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		6	1751	-	Lung NSC(78;0.105)|all_lung(78;0.182)		520					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1591T>C	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.044181	0.93685	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75634	-0.3250	9	0.52906	T	0.07	-28.9848	11.1565	0.48491	0.9288:0.0:0.0712:0.0	.	520;531	Q7L5Y6;B3KNN6	DET1_HUMAN;.	L	531;520	.	ENSP00000268148:F520L	F	-	1	0	DET1	86857281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.078000	0.94023	1.067000	0.40740	0.533000	0.62120	TTC		0.532	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		22	63	0	0	0	0.608945	0	22	63				
QSER1	79832	broad.mit.edu	37	11	32975569	32975569	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:32975569A>C	ENST00000399302.2	+	5	4292	c.3957A>C	c.(3955-3957)gaA>gaC	p.E1319D	QSER1_ENST00000527788.1_Missense_Mutation_p.E1080D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1319										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCCCATTGAACTTGATGGTC	0.448																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3955-3957)gaA>gaC		glutamine and serine rich 1							89.0	84.0	86.0					11																	32975569		1899	4108	6007	SO:0001583	missense	79832							g.chr11:32975569A>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3957A>C	11.37:g.32975569A>C	ENSP00000382241:p.Glu1319Asp					QSER1_ENST00000527788.1_Missense_Mutation_p.E1080D	p.E1319D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			5	4292	+	Breast(20;0.158)		1319					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3957A>C	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.743|9.743	1.165510|1.165510	0.21538|0.21538	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.23348|.	2.24;1.91|.	5.92|5.92	-0.316|-0.316	0.12743|0.12743	.|.	0.559871|.	0.16774|.	N|.	0.200066|.	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24483|.	0.002;0.053;0.104|.	B;B;B|.	0.19148|.	0.004;0.022;0.024|.	T|T	0.33163|0.33163	-0.9879|-0.9879	10|5	0.56958|.	D|.	0.05|.	.|.	2.6205|2.6205	0.04915|0.04915	0.5001:0.1195:0.2745:0.106|0.5001:0.1195:0.2745:0.106	.|.	1080;1080;1319|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	D|T	1319;1080;1080|340	ENSP00000382241:E1319D;ENSP00000432766:E1080D|.	ENSP00000078652:E1080D|.	E|N	+|+	3|2	2|0	QSER1|QSER1	32932145|32932145	0.003000|0.003000	0.15002|0.15002	0.322000|0.322000	0.25334|0.25334	0.746000|0.746000	0.42486|0.42486	-0.144000|-0.144000	0.10280|0.10280	0.165000|0.165000	0.19558|0.19558	0.477000|0.477000	0.44152|0.44152	GAA|AAC		0.448	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		33	63	0	0	0	0.788014	0	33	63				
OR10G7	390265	broad.mit.edu	37	11	123909514	123909514	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909514G>C	ENST00000330487.5	-	1	203	c.195C>G	c.(193-195)tcC>tcG	p.S65S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTCAATGAAGGACAGGTTGG	0.552																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(193-195)tcC>tcG		olfactory receptor, family 10, subfamily G, member 7							25.0	26.0	26.0					11																	123909514		2200	4291	6491	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909514G>C	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.195C>G	11.37:g.123909514G>C							p.S65S	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	203	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	65					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.195C>G	CCDS31705.1																																																																																				0.552	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		6	205	0	0	0	0.217242	0	6	205				
FAM198B	51313	broad.mit.edu	37	4	159092386	159092386	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:159092386A>G	ENST00000296530.8	-	2	763	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.L48L|FAM198B_ENST00000592057.1_Silent_p.L48L|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Silent_p.L48L|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	48						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGGAAGCCCAAGTAGATGGCA	0.662																																						ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(142-144)Ttg>Ctg		family with sequence similarity 198, member B							42.0	44.0	43.0					4																	159092386		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159092386A>G		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.142T>C	4.37:g.159092386A>G						FAM198B_ENST00000592057.1_Silent_p.L48L|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.L48L|FAM198B_ENST00000585682.1_Silent_p.L48L|RP11-597D13.9_ENST00000503611.1_RNA	p.L48L	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	763	-			48					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.142T>C	CCDS3798.1																																																																																				0.662	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		32	22	0	0	0	0.750413	0	32	22				
ZMYM3	9203	broad.mit.edu	37	X	70465236	70465236	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:70465236T>C	ENST00000353904.2	-	18	3147	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N989S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N989S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N987S|ZMYM3_ENST00000373998.1_Missense_Mutation_p.N975S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	987					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCAAGACATTGGCCATCTT	0.532																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2923-2925)aAt>aGt		zinc finger, MYM-type 3							123.0	83.0	96.0					X																	70465236		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465236T>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2960A>G	X.37:g.70465236T>C	ENSP00000343909:p.Asn987Ser					ZMYM3_ENST00000353904.2_Missense_Mutation_p.N987S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N989S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N989S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N987S	p.N975S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			18	3621	-	Renal(35;0.156)		987					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2924A>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	15.75	2.926467	0.52759	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.44881	1.51;0.91;1.51;1.5;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.14661	0.345	0.44754	D	0.997755	P;P	0.48834	0.916;0.863	P;B	0.50109	0.631;0.428	T	0.21518	-1.0243	10	0.40728	T	0.16	-15.4475	14.4236	0.67200	0.0:0.0:0.0:1.0	.	975;987	Q14202-2;Q14202	.;ZMYM3_HUMAN	S	987;975;987;989;989	ENSP00000322845:N987S;ENSP00000363110:N975S;ENSP00000343909:N987S;ENSP00000363096:N989S;ENSP00000363100:N989S	ENSP00000322845:N987S	N	-	2	0	ZMYM3	70381961	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.180000	0.42537	2.051000	0.60960	0.483000	0.47432	AAT		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		26	23	0	0	0	0.788014	0	26	23				
FAM135A	57579	broad.mit.edu	37	6	71162230	71162230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:71162230C>G	ENST00000418814.2	+	5	727	c.113C>G	c.(112-114)tCa>tGa	p.S38*	FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S38*|FAM135A_ENST00000370479.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	38										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAAATTCCATCAAGAATTCCC	0.318																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(112-114)tCa>tGa		family with sequence similarity 135, member A							93.0	86.0	88.0					6																	71162230		1799	4058	5857	SO:0001587	stop_gained	57579							g.chr6:71162230C>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.113C>G	6.37:g.71162230C>G	ENSP00000410768:p.Ser38*					FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S38*|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000457062.2_Intron	p.S38*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			5	727	+			38					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	c.113C>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305214	0.60305	.	.	ENSG00000082269	ENST00000418814;ENST00000505769;ENST00000515323;ENST00000507085;ENST00000361499;ENST00000505868	.	.	.	5.31	5.31	0.75309	.	0.109678	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.9107	0.88934	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000194672:S38X	S	+	2	0	FAM135A	71218951	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.679000	0.54634	2.755000	0.94549	0.650000	0.86243	TCA		0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		42	91	0	0	0	0.870114	0	42	91				
PRDM10	56980	broad.mit.edu	37	11	129794867	129794867	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:129794867A>G	ENST00000360871.3	-	12	2019	c.1788T>C	c.(1786-1788)ctT>ctC	p.L596L	PRDM10_ENST00000528746.1_Silent_p.L570L|PRDM10_ENST00000526082.1_Silent_p.L514L|PRDM10_ENST00000358825.5_Silent_p.L600L|PRDM10_ENST00000423662.2_Silent_p.L514L|PRDM10_ENST00000304538.6_Silent_p.L510L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCAACAAATCAAGGCGGTCAA	0.458																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1798-1800)ctT>ctC		PR domain containing 10							139.0	142.0	141.0					11																	129794867		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129794867A>G	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1788T>C	11.37:g.129794867A>G						PRDM10_ENST00000423662.2_Silent_p.L514L|PRDM10_ENST00000304538.6_Silent_p.L510L|PRDM10_ENST00000526082.1_Silent_p.L514L|PRDM10_ENST00000528746.1_Silent_p.L570L|PRDM10_ENST00000360871.3_Silent_p.L596L	p.L600L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	13	2031	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	600					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1800T>C	CCDS8484.1																																																																																				0.458	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		5	247	0	0	0	0.184627	0	5	247				
KIAA1755	85449	broad.mit.edu	37	20	36869844	36869844	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:36869844G>A	ENST00000279024.4	-	3	960	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	230										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAAACTCTGGGCAGGAAGCAC	0.592																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(688-690)gCc>gTc		KIAA1755							104.0	96.0	99.0					20																	36869844		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869844G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.689C>T	20.37:g.36869844G>A	ENSP00000279024:p.Ala230Val						p.A230V	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	960	-		Myeloproliferative disorder(115;0.00874)	230					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.689C>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	8.311	0.822024	0.16678	.	.	ENSG00000149633	ENST00000279024	T	0.06142	3.34	5.46	-1.59	0.08453	.	1.610810	0.03319	N	0.191675	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	0.999996	B	0.12630	0.006	B	0.12156	0.007	T	0.31336	-0.9947	10	0.02654	T	1	.	1.4813	0.02437	0.2396:0.2927:0.3353:0.1324	.	230	Q5JYT7	K1755_HUMAN	V	230	ENSP00000279024:A230V	ENSP00000279024:A230V	A	-	2	0	KIAA1755	36303258	0.000000	0.05858	0.052000	0.19188	0.315000	0.28087	-0.105000	0.10907	-0.085000	0.12573	0.655000	0.94253	GCC		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		32	72	0	0	0	0.769981	0	32	72				
XYLT1	64131	broad.mit.edu	37	16	17294474	17294474	+	Silent	SNP	G	G	A	rs145318002	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:17294474G>A	ENST00000261381.6	-	4	1035	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	317					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTACTCCACGGAGTCCTCGT	0.577																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(949-951)tcC>tcT		xylosyltransferase I		G		0,4394		0,0,2197	228.0	192.0	204.0		951	-10.7	0.1	16	dbSNP_134	204	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	XYLT1	NM_022166.3		0,3,6494	AA,AG,GG		0.0349,0.0,0.0231		317/960	17294474	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294474G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.951C>T	16.37:g.17294474G>A							p.S317S	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			4	1035	-			317					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.951C>T	CCDS10569.1																																																																																				0.577	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		80	155	0	0	0	0.870114	0	80	155				
MED1	5469	broad.mit.edu	37	17	37565271	37565271	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:37565271G>A	ENST00000300651.6	-	17	3426	c.3203C>T	c.(3202-3204)cCt>cTt	p.P1068L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTTCCCTTAGGAATCTGAAT	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3202-3204)cCt>cTt		mediator complex subunit 1							100.0	97.0	98.0					17																	37565271		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565271G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3203C>T	17.37:g.37565271G>A	ENSP00000300651:p.Pro1068Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.P1068L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3426	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1068					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3203C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256399	0.59321	.	.	ENSG00000125686	ENST00000300651	T	0.35789	1.29	5.87	5.87	0.94306	.	.	.	.	.	T	0.29491	0.0735	N	0.24115	0.695	0.80722	D	1	P	0.44734	0.842	B	0.37601	0.254	T	0.10706	-1.0618	9	0.72032	D	0.01	-12.7784	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1068	Q15648	MED1_HUMAN	L	1068	ENSP00000300651:P1068L	ENSP00000300651:P1068L	P	-	2	0	MED1	34818797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	2.941000	0.99782	0.655000	0.94253	CCT		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		75	167	0	0	0	0.870114	0	75	167				
TRPM2	7226	broad.mit.edu	37	21	45819196	45819196	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45819196T>C	ENST00000397928.1	+	14	2525	c.2080T>C	c.(2080-2082)Tac>Cac	p.Y694H	TRPM2_ENST00000300481.9_Missense_Mutation_p.Y674H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Y694H|TRPM2_ENST00000300482.5_Missense_Mutation_p.Y694H|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	694					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACCGAGTGCTACCGGAAGGA	0.642																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2080-2082)Tac>Cac		transient receptor potential cation channel, subfamily M, member 2							63.0	63.0	63.0					21																	45819196		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819196T>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2080T>C	21.37:g.45819196T>C	ENSP00000381023:p.Tyr694His					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.Y694H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Y694H|TRPM2_ENST00000300481.9_Missense_Mutation_p.Y674H	p.Y694H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			14	2525	+			694					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2080T>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	7.336	0.619889	0.14193	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.08	3.91	0.45181	.	0.374896	0.28230	N	0.016115	D	0.90477	0.7017	M	0.73962	2.25	0.44539	D	0.997499	B;B;B	0.26483	0.15;0.074;0.15	B;B;B	0.25759	0.039;0.055;0.063	D	0.87291	0.2299	10	0.66056	D	0.02	-22.4206	10.0343	0.42120	0.0:0.0836:0.0:0.9164	.	694;480;694	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	694;694;674;694	ENSP00000300482:Y694H;ENSP00000381023:Y694H;ENSP00000300481:Y674H;ENSP00000381026:Y694H	ENSP00000300481:Y674H	Y	+	1	0	TRPM2	44643624	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	1.001000	0.29783	0.759000	0.33084	0.454000	0.30748	TAC		0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		3	89	0	0	0	0.150653	0	3	89				
PCDHB18	54660	broad.mit.edu	37	5	140615829	140615829	+	RNA	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140615829G>A	ENST00000526308.1	+	0	1892					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGCAGAACGGCTCGGCGCCC	0.716																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615829G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615829G>A								NR_001281.1						0	1892	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.716	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			30	11	0	0	0	0.812448	0	30	11				
NAMPT	10135	broad.mit.edu	37	7	105904030	105904030	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:105904030T>C	ENST00000222553.3	-	7	1084	c.777A>G	c.(775-777)aaA>aaG	p.K259K	NAMPT_ENST00000354289.4_Silent_p.K259K	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	259					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CAAAAGCATCTTTTTCATGGT	0.373																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(775-777)aaA>aaG		nicotinamide phosphoribosyltransferase							91.0	93.0	92.0					7																	105904030		2203	4299	6502	SO:0001819	synonymous_variant	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105904030T>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.777A>G	7.37:g.105904030T>C						NAMPT_ENST00000354289.4_Silent_p.K259K	p.K259K	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN			7	1084	-			259					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Silent	SNP	ENST00000222553.3	37	c.777A>G	CCDS5737.1																																																																																				0.373	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		5	278	0	0	0	0.248553	0	5	278				
SLC5A11	115584	broad.mit.edu	37	16	24920260	24920260	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:24920260A>T	ENST00000347898.3	+	14	2115	c.1493A>T	c.(1492-1494)gAc>gTc	p.D498V	SLC5A11_ENST00000567758.1_Missense_Mutation_p.D463V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D342V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D434V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D342V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D463V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D434V	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGTCCTGGACTTTATTTAC	0.567																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1492-1494)gAc>gTc		solute carrier family 5 (sodium/inositol cotransporter), member 11							85.0	65.0	72.0					16																	24920260		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24920260A>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1493A>T	16.37:g.24920260A>T	ENSP00000289932:p.Asp498Val					SLC5A11_ENST00000567758.1_Missense_Mutation_p.D463V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D434V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D342V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D434V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D463V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D342V	p.D498V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	14	2115	+			498						Missense_Mutation	SNP	ENST00000347898.3	37	c.1493A>T	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342009	0.81911	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	L	0.58583	1.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.994;0.973	T	0.77696	-0.2491	10	0.66056	D	0.02	.	14.4217	0.67187	1.0:0.0:0.0:0.0	.	428;463;498;342	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	V	498;342;463;428;434	ENSP00000289932:D498V;ENSP00000389606:D342V;ENSP00000416782:D463V;ENSP00000441384:D428V;ENSP00000441018:D434V	ENSP00000289932:D498V	D	+	2	0	SLC5A11	24827761	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	9.146000	0.94640	2.289000	0.77006	0.482000	0.46254	GAC		0.567	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		33	37	0	0	0	0.804634	0	33	37				
CPA1	1357	broad.mit.edu	37	7	130024430	130024430	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:130024430C>T	ENST00000011292.3	+	7	900	c.750C>T	c.(748-750)ggC>ggT	p.G250G	CPA1_ENST00000484324.1_Silent_p.G162G	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	250					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TCTGTATTGGCGTGGACCCCA	0.597																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(748-750)ggC>ggT		carboxypeptidase A1 (pancreatic)							118.0	103.0	108.0					7																	130024430		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130024430C>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.750C>T	7.37:g.130024430C>T						CPA1_ENST00000484324.1_Silent_p.G162G	p.G250G	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			7	900	+	Melanoma(18;0.0435)		250					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.750C>T	CCDS5820.1																																																																																				0.597	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		34	70	0	0	0	0.788014	0	34	70				
SIGLEC11	114132	broad.mit.edu	37	19	50461598	50461598	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50461598G>A	ENST00000447370.2	-	8	1683	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	CTC-326K19.6_ENST00000451973.1_Silent_p.R17R|SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	531					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGCCTTACAGCGGAGCCTGA	0.667																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1591-1593)cgC>cgT		sialic acid binding Ig-like lectin 11							35.0	41.0	39.0					19																	50461598		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461598G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1593C>T	19.37:g.50461598G>A						SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_Silent_p.R17R	p.R531R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	8	1683	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	531						Silent	SNP	ENST00000447370.2	37	c.1593C>T	CCDS12790.2																																																																																				0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		22	43	0	0	0	0.624587	0	22	43				
CHMP5	51510	broad.mit.edu	37	9	33264251	33264251	+	5'Flank	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:33264251G>A	ENST00000223500.8	+	0	0				CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000379704.2_Missense_Mutation_p.A26V|BAG1_ENST00000472232.3_Missense_Mutation_p.A141V	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GAGCCCAGCTGCCGCCATTTC	0.667																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(421-423)gCa>gTa		BCL2-associated athanogene							43.0	33.0	36.0					9																	33264251		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33264251G>A	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264251G>A	Exception_encountered					BAG1_ENST00000379704.2_Missense_Mutation_p.A26V	p.A141V	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	508	-			141					B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.422C>T	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217077	0.58560	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	.	.	.	4.68	2.7	0.31948	.	0.760298	0.12448	N	0.467986	T	0.24967	0.0606	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.11155	-1.0599	9	0.35671	T	0.21	-0.1614	4.5128	0.11919	0.1988:0.1839:0.6173:0.0	.	141	Q99933	BAG1_HUMAN	V	141;26;26;26	.	ENSP00000369022:A26V	A	-	2	0	BAG1	33254251	0.142000	0.22610	0.611000	0.29010	0.291000	0.27294	2.058000	0.41374	1.325000	0.45301	0.655000	0.94253	GCA		0.667	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		10	13	0	0	0	0.387290	0	10	13				
DIS3L2	129563	broad.mit.edu	37	2	233195446	233195446	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:233195446G>T	ENST00000409307.1	+	15	1970	c.1970G>T	c.(1969-1971)cGc>cTc	p.R657L	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R657L					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCACTGGCCCGCAAGGAGGTG	0.592																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1969-1971)cGc>cTc		DIS3 mitotic control homolog (S. cerevisiae)-like 2							151.0	165.0	160.0					2																	233195446		1963	4156	6119	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233195446G>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1970G>T	2.37:g.233195446G>T	ENSP00000386799:p.Arg657Leu					DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R657L	p.R657L	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	16	2246	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	657						Missense_Mutation	SNP	ENST00000409307.1	37	c.1970G>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	N	19.14	3.769685	0.69992	.	.	ENSG00000144535	ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.34859	1.34;1.34;1.34	5.06	5.06	0.68205	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	L	0.35593	1.075	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.10894	-1.0610	10	0.07813	T	0.8	-22.7191	18.0995	0.89501	0.0:0.0:1.0:0.0	.	657	Q8IYB7	DI3L2_HUMAN	L	657;657;657;292	ENSP00000315569:R657L;ENSP00000386799:R657L;ENSP00000415419:R292L	ENSP00000315569:R657L	R	+	2	0	DIS3L2	232903690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.085000	0.64468	2.348000	0.79779	0.644000	0.83932	CGC		0.592	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		80	155	1	0	5.00163e-47	0.870114	5.61681e-47	80	155				
ADAD2	161931	broad.mit.edu	37	16	84230327	84230327	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:84230327T>C	ENST00000315906.5	+	9	1653	c.1601T>C	c.(1600-1602)gTg>gCg	p.V534A	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V616A|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	534	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCTGTGGGGAAGCCC	0.667																																						ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1846-1848)gTg>gCg		adenosine deaminase domain containing 2							59.0	61.0	60.0					16																	84230327		2200	4300	6500	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84230327T>C	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1601T>C	16.37:g.84230327T>C	ENSP00000325153:p.Val534Ala					RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V534A	p.V616A	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			10	1940	+			534					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1847T>C	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	T	0.106	-1.144585	0.01728	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93604	-3.25;-3.25	5.27	4.18	0.49190	Adenosine deaminase/editase (2);	0.320112	0.25619	N	0.029435	T	0.81992	0.4940	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.12837	0.007;0.008	T	0.66712	-0.5854	10	0.15066	T	0.55	-17.2826	7.0084	0.24849	0.0:0.1003:0.0:0.8997	.	534;616	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	A	534;616	ENSP00000325153:V534A;ENSP00000268624:V616A	ENSP00000268624:V616A	V	+	2	0	ADAD2	82787828	0.053000	0.20554	0.032000	0.17829	0.307000	0.27823	2.082000	0.41605	1.975000	0.57531	0.477000	0.44152	GTG		0.667	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		12	94	0	0	0	0.435327	0	12	94				
TDRD6	221400	broad.mit.edu	37	6	46656745	46656745	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:46656745G>A	ENST00000316081.6	+	1	880	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.G294R|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	294					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CACGGGGACAGGGGATGAGAA	0.632																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(880-882)Ggg>Agg		tudor domain containing 6							41.0	41.0	41.0					6																	46656745		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656745G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.880G>A	6.37:g.46656745G>A	ENSP00000346065:p.Gly294Arg					TDRD6_ENST00000316081.6_Missense_Mutation_p.G294R	p.G294R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1134	+			294					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.880G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349362	0.11182	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14391	2.51;2.51	5.34	3.52	0.40303	Maternal tudor protein (1);	0.839457	0.11030	N	0.607373	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B;B	0.25390	0.102;0.125	B;B	0.29598	0.063;0.104	T	0.46484	-0.9188	10	0.16420	T	0.52	-17.3004	7.4468	0.27215	0.0849:0.3285:0.5866:0.0	.	294;294	F5H5M3;O60522	.;TDRD6_HUMAN	R	294	ENSP00000443299:G294R;ENSP00000346065:G294R	ENSP00000346065:G294R	G	+	1	0	TDRD6	46764704	0.021000	0.18746	0.073000	0.20177	0.450000	0.32258	1.378000	0.34328	0.786000	0.33708	0.655000	0.94253	GGG		0.632	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		10	25	0	0	0	0.411799	0	10	25				
SPNS2	124976	broad.mit.edu	37	17	4434362	4434362	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:4434362T>C	ENST00000329078.3	+	5	950	c.740T>C	c.(739-741)aTt>aCt	p.I247T		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	247					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGGCTACATTACTGGCTCC	0.642																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(739-741)aTt>aCt		spinster homolog 2 (Drosophila)							47.0	43.0	44.0					17																	4434362		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4434362T>C	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.740T>C	17.37:g.4434362T>C	ENSP00000333292:p.Ile247Thr						p.I247T	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			5	950	+			247					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.740T>C	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135814	0.77662	.	.	ENSG00000183018	ENST00000329078	T	0.59364	0.27	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.69358	2.11	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.75587	-0.3266	10	0.87932	D	0	.	12.4694	0.55779	0.0:0.0:0.0:1.0	.	247	Q8IVW8	SPNS2_HUMAN	T	247	ENSP00000333292:I247T	ENSP00000333292:I247T	I	+	2	0	SPNS2	4381111	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	8.040000	0.89188	1.628000	0.50416	0.379000	0.24179	ATT		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			10	13	0	0	0	0.411799	0	10	13				
SERTAD2	9792	broad.mit.edu	37	2	64863637	64863637	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:64863637A>G	ENST00000313349.3	-	2	666	c.369T>C	c.(367-369)acT>acC	p.T123T	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	123					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGGGCGTAGTGCTTCCGA	0.701																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(367-369)acT>acC		SERTA domain containing 2							38.0	41.0	40.0					2																	64863637		2203	4300	6503	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863637A>G	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.369T>C	2.37:g.64863637A>G							p.T123T	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	666	-			123					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.369T>C	CCDS33210.1																																																																																				0.701	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		44	50	0	0	0	0.847076	0	44	50				
PRPF40B	25766	broad.mit.edu	37	12	50031329	50031329	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:50031329G>T	ENST00000380281.1	+	16	1635	c.1571G>T	c.(1570-1572)aGc>aTc	p.S524I	PRPF40B_ENST00000261897.1_Missense_Mutation_p.S518I|PRPF40B_ENST00000548825.2_Missense_Mutation_p.S546I|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	524	FF 4.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAGCAGTCAGCACTGATGTC	0.607											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1552-1554)aGc>aTc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							96.0	75.0	82.0					12																	50031329		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50031329G>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1571G>T	12.37:g.50031329G>T	ENSP00000369634:p.Ser524Ile		OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_ENST00000548825.2_Missense_Mutation_p.S546I|PRPF40B_ENST00000380281.1_Missense_Mutation_p.S524I	p.S518I			Q6NWY9	PR40B_HUMAN			16	2104	+			524			FF 2.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1553G>T		.	.	.	.	.	.	.	.	.	.	G	26.0	4.697105	0.88830	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.32023	1.47;1.47	4.62	4.62	0.57501	FF domain (3);	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.84511	2.7	0.80722	D	1	D;P;D	0.62365	0.974;0.93;0.991	D;P;D	0.69654	0.931;0.848;0.965	T	0.64580	-0.6374	9	.	.	.	-16.2275	16.7574	0.85503	0.0:0.0:1.0:0.0	.	524;518;524	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	I	518;524	ENSP00000261897:S518I;ENSP00000369634:S524I	.	S	+	2	0	PRPF40B	48317596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.406000	0.97321	2.578000	0.87016	0.655000	0.94253	AGC		0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		18	39	1	0	4.35082e-09	0.592651	4.56836e-09	18	39				
SUCLG2	8801	broad.mit.edu	37	3	67546326	67546326	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:67546326T>C	ENST00000307227.5	-	9	985	c.958A>G	c.(958-960)Att>Gtt	p.I320V	SUCLG2_ENST00000492795.1_Missense_Mutation_p.I320V|SUCLG2_ENST00000493112.1_Missense_Mutation_p.I320V	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	320					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTAAGGAAAATGATATCACAA	0.443																																						ENST00000307227.5																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10						c.(958-960)Att>Gtt		succinate-CoA ligase, GDP-forming, beta subunit	Succinic acid(DB00139)						84.0	78.0	80.0					3																	67546326		1931	4144	6075	SO:0001583	missense	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67546326T>C	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.958A>G	3.37:g.67546326T>C	ENSP00000307432:p.Ile320Val					SUCLG2_ENST00000493112.1_Missense_Mutation_p.I320V|SUCLG2_ENST00000492795.1_Missense_Mutation_p.I320V	p.I320V	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	9	985	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	320					C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	c.958A>G	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174427	0.57692	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000492795	T;T;T	0.75589	-0.95;-0.95;-0.1	5.64	5.64	0.86602	Succinyl-CoA synthetase-like (2);Succinyl-CoA synthetase, beta subunit, conserved site (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	L	0.55213	1.73	0.80722	D	1	B	0.30870	0.298	B	0.40901	0.343	T	0.77400	-0.2602	10	0.66056	D	0.02	.	15.8579	0.78994	0.0:0.0:0.0:1.0	.	320	Q96I99	SUCB2_HUMAN	V	320	ENSP00000419325:I320V;ENSP00000307432:I320V;ENSP00000417589:I320V	ENSP00000307432:I320V	I	-	1	0	SUCLG2	67629016	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.698000	0.84413	2.131000	0.65755	0.460000	0.39030	ATT		0.443	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		30	19	0	0	0	0.804634	0	30	19				
RAD52	5893	broad.mit.edu	37	12	1036424	1036424	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:1036424A>G	ENST00000358495.3	-	6	492	c.354T>C	c.(352-354)ggT>ggC	p.G118G	RAD52_ENST00000536177.1_Silent_p.G118G|RAD52_ENST00000430095.2_Silent_p.G118G|RAD52_ENST00000539046.1_Silent_p.G41G|RAD52_ENST00000545564.1_Silent_p.G118G	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	118					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CATGATATGAACCATCCTGGG	0.532								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(352-354)ggT>ggC	Homologous recombination	RAD52 homolog (S. cerevisiae)							152.0	153.0	153.0					12																	1036424		2203	4300	6503	SO:0001819	synonymous_variant	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1036424A>G		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.354T>C	12.37:g.1036424A>G						RAD52_ENST00000545564.1_Silent_p.G118G|RAD52_ENST00000430095.2_Silent_p.G118G|RAD52_ENST00000539046.1_Silent_p.G41G|RAD52_ENST00000536177.1_Silent_p.G118G	p.G118G	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		6	492	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		118					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	c.354T>C	CCDS8507.2																																																																																				0.532	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		50	294	0	0	0	0.870114	0	50	294				
EGLN2	112398	broad.mit.edu	37	19	41307235	41307235	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:41307235T>G	ENST00000593726.1	+	1	1786	c.758T>G	c.(757-759)aTt>aGt	p.I253S	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.I253S|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Missense_Mutation_p.I253S|CTC-490E21.12_ENST00000601627.1_Missense_Mutation_p.L12V			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	253					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TGTCGAAGCATTGGTGCCCTC	0.657																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(757-759)aTt>aGt		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						43.0	39.0	40.0					19																	41307235		2203	4299	6502	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41307235T>G	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.758T>G	19.37:g.41307235T>G	ENSP00000469686:p.Ile253Ser					EGLN2_ENST00000303961.4_Missense_Mutation_p.I253S|EGLN2_ENST00000406058.2_Missense_Mutation_p.I253S|CTC-490E21.12_ENST00000601627.1_Missense_Mutation_p.L12V|RAB4B-EGLN2_ENST00000594136.1_3'UTR	p.I253S			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1786	+			253					A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.758T>G	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806531	0.70682	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	D;D	0.86956	-2.19;-2.19	4.05	4.05	0.47172	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93278	0.7858	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94087	0.7349	10	0.87932	D	0	-10.5679	12.4226	0.55527	0.0:0.0:0.0:1.0	.	253	Q96KS0	EGLN2_HUMAN	S	253	ENSP00000307080:I253S;ENSP00000385253:I253S	ENSP00000307080:I253S	I	+	2	0	EGLN2	45999075	1.000000	0.71417	0.976000	0.42696	0.726000	0.41606	7.704000	0.84595	1.837000	0.53436	0.482000	0.46254	ATT		0.657	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			22	34	0	0	0	0.654019	0	22	34				
DIS3L	115752	broad.mit.edu	37	15	66618704	66618704	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:66618704T>C	ENST00000319212.4	+	12	2251		c.e12+2		RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Splice_Site	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease						RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGATACACGGTATTCCTCTTT	0.458																																						ENST00000319194.5																			1	Unknown(1)	p.?(1)	ovary(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e12+2		DIS3 mitotic control homolog (S. cerevisiae)-like							29.0	31.0	30.0					15																	66618704		2183	4281	6464	SO:0001630	splice_region_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618704T>C		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2201+2T>C	15.37:g.66618704T>C						DIS3L_ENST00000319212.4_Splice_Site|RP11-352G18.2_ENST00000565993.1_RNA		NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	2213	+								Q8N1N8|Q8WTU9|Q96CM7	Splice_Site	SNP	ENST00000319212.4	37		CCDS45286.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116452	0.56505	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.814	0.63281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIS3L	64405758	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.238000	0.72350	2.029000	0.59856	0.379000	0.24179	.		0.458	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	Intron	33	71	0	0	0	0.760397	0	33	71				
ASXL2	55252	broad.mit.edu	37	2	25966872	25966872	+	Silent	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:25966872T>G	ENST00000435504.4	-	13	2627	c.2334A>C	c.(2332-2334)ccA>ccC	p.P778P	ASXL2_ENST00000404843.1_Silent_p.P518P|ASXL2_ENST00000272341.4_Silent_p.P518P|ASXL2_ENST00000336112.4_Silent_p.P750P			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	778					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTT	0.552																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2332-2334)ccA>ccC		additional sex combs like 2 (Drosophila)							92.0	95.0	94.0					2																	25966872		2026	4199	6225	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966872T>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2334A>C	2.37:g.25966872T>G						ASXL2_ENST00000404843.1_Silent_p.P518P|ASXL2_ENST00000272341.4_Silent_p.P518P|ASXL2_ENST00000336112.4_Silent_p.P750P	p.P778P			Q76L83	ASXL2_HUMAN			13	2627	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		778					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.2334A>C																																																																																					0.552	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		44	98	0	0	0	0.870114	0	44	98				
MED12L	116931	broad.mit.edu	37	3	150908555	150908555	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:150908555T>C	ENST00000474524.1	+	13	1843	c.1805T>C	c.(1804-1806)cTc>cCc	p.L602P	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.L462P|MED12L_ENST00000309237.4_Missense_Mutation_p.L602P|MED12L_ENST00000422248.2_Missense_Mutation_p.L602P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	602						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGTGCTGCTCTTCTGCGAG	0.468																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1804-1806)cTc>cCc		mediator complex subunit 12-like							120.0	103.0	109.0					3																	150908555		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908555T>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1805T>C	3.37:g.150908555T>C	ENSP00000417235:p.Leu602Pro					MED12L_ENST00000273432.4_Missense_Mutation_p.L462P|MED12L_ENST00000309237.4_Missense_Mutation_p.L602P|MED12L_ENST00000422248.2_Missense_Mutation_p.L602P	p.L602P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1843	+			602					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1805T>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481173	0.84747	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.48	5.48	0.80851	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	T	0.82102	-0.0623	10	0.87932	D	0	-17.673	15.5257	0.75901	0.0:0.0:0.0:1.0	.	462;602;602;602	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	P	602;602;602;462	ENSP00000403308:L602P;ENSP00000310760:L602P;ENSP00000417235:L602P;ENSP00000273432:L462P	ENSP00000273432:L462P	L	+	2	0	MED12L	152391245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.232000	0.78116	2.207000	0.71202	0.482000	0.46254	CTC		0.468	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		16	107	0	0	0	0.500413	0	16	107				
TNC	3371	broad.mit.edu	37	9	117848833	117848833	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:117848833C>A	ENST00000350763.4	-	3	1588	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*	TNC_ENST00000535648.1_Nonsense_Mutation_p.E393*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E393*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E393*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E393*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E393*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E393*|TNC_ENST00000542877.1_Nonsense_Mutation_p.E393*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E393*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	393	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATCACACTCACACCGCCCG	0.577																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1177-1179)Gag>Tag		tenascin C							136.0	114.0	121.0					9																	117848833		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848833C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1177G>T	9.37:g.117848833C>A	ENSP00000265131:p.Glu393*					TNC_ENST00000542877.1_Nonsense_Mutation_p.E393*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E393*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E393*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E393*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E393*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E393*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E393*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E393*	p.E393*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1588	-			393			EGF-like 8.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.1177G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	37	6.116246	0.97296	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.44	3.59	0.41128	.	0.211589	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0841	0.53688	0.1367:0.7322:0.1311:0.0	.	.	.	.	X	393	.	ENSP00000344400:E393X	E	-	1	0	TNC	116888654	0.000000	0.05858	0.786000	0.31890	0.000000	0.00434	0.079000	0.14782	0.774000	0.33427	-1.154000	0.01816	GAG		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		21	23	1	0	5.35356e-11	0.639603	5.65659e-11	21	23				
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C	rs530929455	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:35930362T>C	ENST00000435235.1	+	10	1230	c.798T>C	c.(796-798)taT>taC	p.Y266Y	SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000494488.2_Silent_p.Y305Y			Q16181	SEPT7_HUMAN	septin 7	319	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323													T|||	6	0.00119808	0.0	0.0	5008	,	,		16353	0.005		0.0	False		,,,				2504	0.001					ENST00000494488.2																			3	Substitution - coding silent(3)	p.Y320Y(3)	kidney(2)|prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(913-915)taT>taC		septin 7							47.0	41.0	43.0					7																	35930362		1836	4080	5916	SO:0001819	synonymous_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35930362T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.798T>C	7.37:g.35930362T>C						SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y	p.Y305Y			Q16181	SEPT7_HUMAN			10	915	+			319					Q52M76|Q6NX50	Silent	SNP	ENST00000435235.1	37	c.915T>C																																																																																					0.323	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		3	60	0	0	0	0.115264	0	3	60				
PAAF1	80227	broad.mit.edu	37	11	73610254	73610254	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:73610254A>G	ENST00000310571.3	+	5	399	c.346A>G	c.(346-348)Atg>Gtg	p.M116V	PAAF1_ENST00000541951.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000536003.1_Missense_Mutation_p.M99V|PAAF1_ENST00000535604.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000544909.1_Missense_Mutation_p.M117V|PAAF1_ENST00000544552.1_Missense_Mutation_p.M99V|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000376384.5_Missense_Mutation_p.M99V	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	116					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGACGGGACCATGAAAATCTG	0.433																																						ENST00000544909.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(349-351)Atg>Gtg		proteasomal ATPase-associated factor 1							97.0	94.0	95.0					11																	73610254		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73610254A>G	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.346A>G	11.37:g.73610254A>G	ENSP00000311665:p.Met116Val					PAAF1_ENST00000376384.5_Missense_Mutation_p.M99V|PAAF1_ENST00000541951.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000544552.1_Missense_Mutation_p.M99V|PAAF1_ENST00000536003.1_Missense_Mutation_p.M99V|PAAF1_ENST00000535604.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000310571.3_Missense_Mutation_p.M116V|PAAF1_ENST00000543079.1_3'UTR	p.M117V			Q9BRP4	PAAF1_HUMAN			3	606	+	Breast(11;7.42e-05)		116					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.349A>G	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.633045	0.47049	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.55;0.73;0.73;0.73;0.55;0.43;0.73;0.73;0.73;0.73;0.73	4.78	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	N	0.04373	-0.215	0.38797	D	0.955117	P;B	0.43578	0.811;0.45	P;B	0.60789	0.879;0.176	T	0.51865	-0.8651	10	0.22706	T	0.39	-16.4121	13.1251	0.59349	1.0:0.0:0.0:0.0	.	99;116	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	V	1;116;99;99;1;1;99;99;99;94;117	ENSP00000441333:M1V;ENSP00000311665:M116V;ENSP00000439747:M99V;ENSP00000438894:M99V;ENSP00000438789:M1V;ENSP00000439143:M1V;ENSP00000438124:M99V;ENSP00000441494:M99V;ENSP00000365564:M99V;ENSP00000443473:M94V;ENSP00000438071:M117V	ENSP00000311665:M116V	M	+	1	0	PAAF1	73287902	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	6.384000	0.73177	1.785000	0.52413	0.533000	0.62120	ATG		0.433	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		22	55	0	0	0	0.654019	0	22	55				
POLM	27434	broad.mit.edu	37	7	44113413	44113413	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:44113413G>T	ENST00000242248.5	-	9	1384	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	POLM_ENST00000335195.6_Missense_Mutation_p.P391H|POLM_ENST00000395831.3_Missense_Mutation_p.P348H|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	428					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGGGCGAAAGGGAACTGGCT	0.672								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(1282-1284)cCt>cAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							45.0	54.0	51.0					7																	44113413		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44113413G>T	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1283C>A	7.37:g.44113413G>T	ENSP00000242248:p.Pro428His					POLM_ENST00000335195.6_Missense_Mutation_p.P391H|POLM_ENST00000395831.3_Missense_Mutation_p.P348H	p.P428H	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			9	1384	-			428					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.1283C>A	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223314	0.79464	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.46063	0.88;0.88;0.88	5.75	4.88	0.63580	DNA-directed DNA polymerase X (1);	0.259609	0.38326	N	0.001731	T	0.63331	0.2502	M	0.81112	2.525	0.25081	N	0.990929	B;D;B	0.89917	0.244;1.0;0.009	B;D;B	0.66196	0.06;0.942;0.011	T	0.60311	-0.7288	10	0.62326	D	0.03	-28.7033	12.4229	0.55529	0.0:0.0:0.8321:0.1679	.	348;391;428	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	H	391;428;348	ENSP00000335141:P391H;ENSP00000242248:P428H;ENSP00000379174:P348H	ENSP00000242248:P428H	P	-	2	0	POLM	44079938	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.218000	0.72224	1.451000	0.47736	-0.133000	0.14855	CCT		0.672	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		28	64	1	0	9.04072e-19	0.779181	9.82432e-19	28	64				
KIF15	56992	broad.mit.edu	37	3	44844357	44844357	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:44844357A>G	ENST00000326047.4	+	14	1710	c.1561A>G	c.(1561-1563)Agg>Ggg	p.R521G	KIF15_ENST00000425755.1_Missense_Mutation_p.R156G	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	521					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCATTCCCTCAGGGAGGAGAA	0.383																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(1561-1563)Agg>Ggg		kinesin family member 15							97.0	99.0	99.0					3																	44844357		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44844357A>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1561A>G	3.37:g.44844357A>G	ENSP00000324020:p.Arg521Gly					KIF15_ENST00000425755.1_Missense_Mutation_p.R156G	p.R521G	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	14	1710	+			521					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.1561A>G	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959581	0.74016	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.80123	-0.46;-1.34;1.45	5.87	2.0	0.26442	Kinesin-like, KLP2 (1);	0.000000	0.56097	D	0.000027	D	0.87196	0.6117	M	0.66939	2.045	0.47407	D	0.999413	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.85774	0.1357	10	0.52906	T	0.07	.	13.5008	0.61454	0.6284:0.3716:0.0:0.0	.	156;521	C9JKA9;Q9NS87	.;KIF15_HUMAN	G	521;293;520;156	ENSP00000324020:R521G;ENSP00000425499:R293G;ENSP00000389982:R156G	ENSP00000324020:R521G	R	+	1	2	KIF15	44819361	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	0.850000	0.27737	0.095000	0.17434	-0.316000	0.08728	AGG		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			75	53	0	0	0	0.870114	0	75	53				
RREB1	6239	broad.mit.edu	37	6	7230314	7230314	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:7230314A>G	ENST00000349384.6	+	10	2296	c.1982A>G	c.(1981-1983)cAc>cGc	p.H661R	RREB1_ENST00000334984.6_Missense_Mutation_p.H661R|RREB1_ENST00000379933.3_Missense_Mutation_p.H661R|RREB1_ENST00000379938.2_Missense_Mutation_p.H661R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	661					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTGCGTGCCCACGTGCGCTCC	0.662																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1981-1983)cAc>cGc		ras responsive element binding protein 1							45.0	42.0	43.0					6																	7230314		2203	4299	6502	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230314A>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1982A>G	6.37:g.7230314A>G	ENSP00000305560:p.His661Arg					RREB1_ENST00000379933.3_Missense_Mutation_p.H661R|RREB1_ENST00000334984.6_Missense_Mutation_p.H661R|RREB1_ENST00000349384.6_Missense_Mutation_p.H661R	p.H661R	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2519	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	661					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1982A>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523765	0.64747	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.63307	0.2500	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.993;0.996;0.999	T	0.74166	-0.3753	10	0.87932	D	0	-48.3934	15.3726	0.74577	1.0:0.0:0.0:0.0	.	661;661;661	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	661	ENSP00000369265:H661R;ENSP00000369270:H661R;ENSP00000305560:H661R;ENSP00000335574:H661R;ENSP00000419511:H661R	ENSP00000335574:H661R	H	+	2	0	RREB1	7175313	1.000000	0.71417	0.956000	0.39512	0.631000	0.37964	8.885000	0.92439	2.209000	0.71365	0.533000	0.62120	CAC		0.662	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			21	25	0	0	0	0.639603	0	21	25				
MTUS2	23281	broad.mit.edu	37	13	29599785	29599785	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:29599785C>A	ENST00000431530.3	+	1	1038	c.980C>A	c.(979-981)cCc>cAc	p.P327H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	317						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATGTTCCTCCCAGGAGAGTT	0.507																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(979-981)cCc>cAc		microtubule associated tumor suppressor candidate 2							46.0	47.0	47.0					13																	29599785		1940	4138	6078	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599785C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.980C>A	13.37:g.29599785C>A	ENSP00000392057:p.Pro327His						p.P327H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1038	+			317					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.980C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690932	0.48097	.	.	ENSG00000132938	ENST00000431530	T	0.13538	2.58	5.15	3.43	0.39272	.	1.084250	0.07123	N	0.844161	T	0.26955	0.0660	L	0.54323	1.7	0.18873	N	0.999982	D	0.61697	0.99	P	0.56474	0.799	T	0.13282	-1.0515	9	.	.	.	.	8.913	0.35565	0.0:0.8286:0.0:0.1714	.	317	Q5JR59	MTUS2_HUMAN	H	327	ENSP00000392057:P327H	.	P	+	2	0	MTUS2	28497785	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	0.838000	0.27572	0.575000	0.29434	0.655000	0.94253	CCC		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		3	43	1	0	0.115264	0.115264	0.116093	3	43				
TBC1D23	55773	broad.mit.edu	37	3	100042461	100042461	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:100042461T>A	ENST00000394144.4	+	19	2056	c.2049T>A	c.(2047-2049)acT>acA	p.T683T	TBC1D23_ENST00000475134.1_Silent_p.T546T|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.T668T	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	683					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GGGATGCAACTAAAGCCATAA	0.264																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(2047-2049)acT>acA		TBC1 domain family, member 23							16.0	18.0	17.0					3																	100042461		2187	4288	6475	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100042461T>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.2049T>A	3.37:g.100042461T>A						TBC1D23_ENST00000475134.1_Silent_p.T546T|TBC1D23_ENST00000344949.5_Silent_p.T668T|TBC1D23_ENST00000486274.1_3'UTR	p.T683T	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			19	2056	+			683					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.2049T>A	CCDS56265.1																																																																																				0.264	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		15	33	0	0	0	0.608945	0	15	33				
OR10G7	390265	broad.mit.edu	37	11	123909420	123909420	+	Missense_Mutation	SNP	C	C	T	rs147002134	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909420C>T	ENST00000330487.5	-	1	297	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCTGAGCCACGCAGCTGTGG	0.537													C|||	6	0.00119808	0.0	0.0	5008	,	,		21365	0.0		0.001	False		,,,				2504	0.0051					ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(289-291)Gtg>Atg		olfactory receptor, family 10, subfamily G, member 7		C	MET/VAL	0,4400		0,0,2200	160.0	173.0	169.0		289	0.4	0.2	11	dbSNP_134	169	8,8590	6.4+/-24.3	0,8,4291	no	missense	OR10G7	NM_001004463.1	21	0,8,6491	TT,TC,CC		0.093,0.0,0.0615	benign	97/312	123909420	8,12990	2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909420C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.289G>A	11.37:g.123909420C>T	ENSP00000329689:p.Val97Met						p.V97M	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	297	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	97					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.289G>A	CCDS31705.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.163	-0.643153	0.03531	0.0	9.3E-4	ENSG00000182634	ENST00000330487	T	0.00366	7.79	3.39	0.406	0.16366	GPCR, rhodopsin-like superfamily (1);	0.660744	0.13193	N	0.406531	T	0.00210	0.0006	L	0.31065	0.9	0.21256	N	0.999749	B	0.29341	0.242	B	0.32677	0.15	T	0.16867	-1.0388	10	0.17369	T	0.5	.	7.5327	0.27691	0.0:0.5071:0.0:0.4928	.	97	Q8NGN6	O10G7_HUMAN	M	97	ENSP00000329689:V97M	ENSP00000329689:V97M	V	-	1	0	OR10G7	123414630	0.000000	0.05858	0.188000	0.23233	0.066000	0.16364	-0.978000	0.03778	-0.014000	0.14175	-0.391000	0.06502	GTG		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		9	257	0	0	0	0.387290	0	9	257				
TEK	7010	broad.mit.edu	37	9	27183560	27183560	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:27183560T>C	ENST00000380036.4	+	8	1576	c.1134T>C	c.(1132-1134)ccT>ccC	p.P378P	TEK_ENST00000519097.1_Silent_p.P231P|TEK_ENST00000406359.4_Silent_p.P335P	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	378	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGCCGCTACCTACTAATGAAG	0.433																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1132-1134)ccT>ccC		TEK tyrosine kinase, endothelial							143.0	158.0	153.0					9																	27183560		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27183560T>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1134T>C	9.37:g.27183560T>C						TEK_ENST00000519097.1_Silent_p.P231P|TEK_ENST00000406359.4_Silent_p.P335P	p.P378P	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	8	1576	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	378			Ig-like C2-type 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.1134T>C	CCDS6519.1																																																																																				0.433	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			96	111	0	0	0	0.870114	0	96	111				
RHOBTB2	23221	broad.mit.edu	37	8	22865538	22865538	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:22865538A>G	ENST00000251822.6	+	6	2071	c.1534A>G	c.(1534-1536)Agc>Ggc	p.S512G	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S519G|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S534G	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	512	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGCACCATCAGCGCCCACAA	0.572																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1534-1536)Agc>Ggc		Rho-related BTB domain containing 2							73.0	72.0	72.0					8																	22865538		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22865538A>G	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1534A>G	8.37:g.22865538A>G	ENSP00000251822:p.Ser512Gly					RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S519G|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S534G	p.S512G	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	2071	+		Prostate(55;0.0513)|Breast(100;0.214)	512			BTB 2.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.1534A>G	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.925692	0.52759	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.68181	-0.31;-0.31;-0.31	4.99	3.76	0.43208	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.272597	0.47455	D	0.000221	T	0.61135	0.2323	L	0.49350	1.555	0.27054	N	0.963705	B;B;B	0.32862	0.387;0.387;0.387	B;B;B	0.39771	0.309;0.232;0.309	T	0.53472	-0.8434	10	0.26408	T	0.33	.	9.6429	0.39850	0.844:0.0:0.0:0.156	.	519;512;534	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	G	534;519;512	ENSP00000427926:S534G;ENSP00000429141:S519G;ENSP00000251822:S512G	ENSP00000251822:S512G	S	+	1	0	RHOBTB2	22921483	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.633000	0.46519	1.857000	0.53885	0.533000	0.62120	AGC		0.572	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			9	126	0	0	0	0.307466	0	9	126				
CAMSAP3	57662	broad.mit.edu	37	19	7677807	7677807	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:7677807C>A	ENST00000160298.4	+	11	2529	c.2428C>A	c.(2428-2430)Ctg>Atg	p.L810M	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.L837M	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	810	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTCCCCCACCTGCGCAAGTT	0.721																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(2509-2511)Ctg>Atg		calmodulin regulated spectrin-associated protein family, member 3							15.0	19.0	17.0					19																	7677807		2010	4134	6144	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677807C>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2428C>A	19.37:g.7677807C>A	ENSP00000160298:p.Leu810Met					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.L810M	p.L837M	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	2610	+			810			Pro-rich.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.2509C>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	17.75	3.465966	0.63625	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.30182	1.56;1.54	5.21	3.07	0.35406	.	0.076287	0.52532	D	0.000069	T	0.51856	0.1699	M	0.75085	2.285	0.30234	N	0.795613	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.988	T	0.54925	-0.8220	10	0.66056	D	0.02	-19.3526	10.4882	0.44735	0.0:0.8396:0.0:0.1604	.	810;837	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	M	837;810	ENSP00000416797:L837M;ENSP00000160298:L810M	ENSP00000160298:L810M	L	+	1	2	KIAA1543	7583807	0.650000	0.27331	1.000000	0.80357	0.996000	0.88848	0.795000	0.26972	0.584000	0.29591	0.551000	0.68910	CTG		0.721	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		3	6	1	0	5.9392e-07	0.217242	6.16678e-07	3	6				
LAMA1	284217	broad.mit.edu	37	18	6949184	6949184	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:6949184C>A	ENST00000389658.3	-	59	8565	c.8472G>T	c.(8470-8472)gtG>gtT	p.V2824V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2824	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTCCATCTCCCACCACAGTCA	0.483																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8470-8472)gtG>gtT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						96.0	83.0	87.0					18																	6949184		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6949184C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8472G>T	18.37:g.6949184C>A							p.V2824V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			59	8565	-		Colorectal(10;0.172)	2824			Laminin G-like 4.			Silent	SNP	ENST00000389658.3	37	c.8472G>T	CCDS32787.1																																																																																				0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		29	54	1	0	6.50621e-10	0.769981	6.84864e-10	29	54				
LRPPRC	10128	broad.mit.edu	37	2	44145522	44145522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:44145522C>T	ENST00000260665.7	-	28	2969	c.2912G>A	c.(2911-2913)tGg>tAg	p.W971*		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	971					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTCTTTGCCAGTCACCGTT	0.299																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2911-2913)tGg>tAg		leucine-rich pentatricopeptide repeat containing							56.0	58.0	58.0					2																	44145522		2202	4300	6502	SO:0001587	stop_gained	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44145522C>T	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2912G>A	2.37:g.44145522C>T	ENSP00000260665:p.Trp971*						p.W971*	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			28	2969	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	971					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	ENST00000260665.7	37	c.2912G>A	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	40	8.188346	0.98696	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	.	.	.	6.17	5.29	0.74685	.	0.199651	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.8481	17.652	0.88167	0.0:0.877:0.123:0.0	.	.	.	.	X	871;971	.	ENSP00000260665:W971X	W	-	2	0	LRPPRC	43999026	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.756000	0.74919	1.608000	0.50180	-0.176000	0.13171	TGG		0.299	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		28	86	0	0	0	0.729181	0	28	86				
WDHD1	11169	broad.mit.edu	37	14	55411062	55411062	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:55411062A>G	ENST00000360586.3	-	25	3242	c.3177T>C	c.(3175-3177)acT>acC	p.T1059T	WDHD1_ENST00000421192.1_Silent_p.T936T|WDHD1_ENST00000420358.2_Silent_p.T936T|WDHD1_ENST00000359167.4_Silent_p.T577T	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1059					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTCTTTCTTCAGTTGACAATA	0.328																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(3175-3177)acT>acC		WD repeat and HMG-box DNA binding protein 1							133.0	134.0	134.0					14																	55411062		2203	4299	6502	SO:0001819	synonymous_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55411062A>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.3177T>C	14.37:g.55411062A>G						WDHD1_ENST00000421192.1_Silent_p.T936T|WDHD1_ENST00000420358.2_Silent_p.T936T|WDHD1_ENST00000359167.4_Silent_p.T577T	p.T1059T	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			25	3242	-			1059					C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	c.3177T>C	CCDS9721.1																																																																																				0.328	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		80	142	0	0	0	0.870114	0	80	142				
TAAR5	9038	broad.mit.edu	37	6	132910127	132910127	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:132910127A>G	ENST00000258034.2	-	1	750	c.699T>C	c.(697-699)atT>atC	p.I233I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	233					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TCAATGTGGTAATCTGCTGAG	0.512																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(697-699)atT>atC		trace amine associated receptor 5							45.0	45.0	45.0					6																	132910127		2203	4300	6503	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910127A>G	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.699T>C	6.37:g.132910127A>G							p.I233I	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	750	-	Breast(56;0.112)		233					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.699T>C	CCDS5156.1																																																																																				0.512	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		45	62	0	0	0	0.847076	0	45	62				
FES	2242	broad.mit.edu	37	15	91428282	91428282	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:91428282T>C	ENST00000328850.3	+	2	149	c.7T>C	c.(7-9)Ttc>Ctc	p.F3L	FES_ENST00000394302.1_Missense_Mutation_p.F3L|FES_ENST00000394300.3_Missense_Mutation_p.F3L|FES_ENST00000414248.2_Missense_Mutation_p.F3L|FES_ENST00000444422.2_Missense_Mutation_p.F3L|FES_ENST00000450438.2_Missense_Mutation_p.F3L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	3	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTATGGGCTTCTCTTCCGA	0.627																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(7-9)Ttc>Ctc		feline sarcoma oncogene							107.0	119.0	115.0					15																	91428282		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428282T>C	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.7T>C	15.37:g.91428282T>C	ENSP00000331504:p.Phe3Leu					FES_ENST00000394302.1_Missense_Mutation_p.F3L|FES_ENST00000450438.2_Missense_Mutation_p.F3L|FES_ENST00000414248.2_Missense_Mutation_p.F3L|FES_ENST00000394300.3_Missense_Mutation_p.F3L|FES_ENST00000444422.2_Missense_Mutation_p.F3L	p.F3L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		2	149	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		3			FCH.|Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.7T>C	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690877	0.88735	.	.	ENSG00000182511	ENST00000416779;ENST00000328850;ENST00000414248;ENST00000394302;ENST00000452243;ENST00000443697;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T;T;T;T	0.57436	0.4;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	4.89	4.89	0.63831	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.76170	2.325	0.44006	D	0.996711	D;D;D;D;D;D	0.76494	0.999;0.982;0.985;0.999;0.993;0.999	D;D;D;D;D;D	0.87578	0.998;0.961;0.977;0.997;0.981;0.998	T	0.74674	-0.3586	10	0.56958	D	0.05	-30.6833	14.3824	0.66921	0.0:0.0:0.0:1.0	.	3;3;3;3;3;3	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	3	ENSP00000410477:F3L;ENSP00000331504:F3L;ENSP00000414629:F3L;ENSP00000377839:F3L;ENSP00000392696:F3L;ENSP00000395425:F3L;ENSP00000400868:F3L;ENSP00000377837:F3L;ENSP00000409915:F3L	ENSP00000331504:F3L	F	+	1	0	FES	89229286	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.011000	0.76359	2.074000	0.62210	0.529000	0.55759	TTC		0.627	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		82	202	0	0	0	0.870114	0	82	202				
BCORL1	63035	broad.mit.edu	37	X	129173135	129173135	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:129173135A>G	ENST00000218147.7	+	10	4693	c.4496A>G	c.(4495-4497)aAt>aGt	p.N1499S	BCORL1_ENST00000359304.2_Missense_Mutation_p.N1369S|BCORL1_ENST00000303743.5_Missense_Mutation_p.N1573S|BCORL1_ENST00000540052.1_Missense_Mutation_p.N1499S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1499					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCGGTGGTCAATGACAACCTG	0.572																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4495-4497)aAt>aGt		BCL6 corepressor-like 1							139.0	92.0	108.0					X																	129173135		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129173135A>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4496A>G	X.37:g.129173135A>G	ENSP00000218147:p.Asn1499Ser					BCORL1_ENST00000359304.2_Missense_Mutation_p.N1369S|BCORL1_ENST00000303743.5_Missense_Mutation_p.N1573S|BCORL1_ENST00000218147.7_Missense_Mutation_p.N1499S	p.N1499S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			9	4540	+			1499					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4496A>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080756	0.36758	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.71222	-0.18;-0.55;-0.55;-0.18;-0.55	5.19	4.01	0.46588	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.65729	0.2719	L	0.37507	1.11	0.41329	D	0.98722	P;B	0.50443	0.935;0.407	P;B	0.48334	0.574;0.384	T	0.69661	-0.5085	9	0.72032	D	0.01	-13.1321	10.427	0.44385	0.9207:0.0:0.0793:0.0	.	1573;1499	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	S	1499;1573;1369;1499;1173	ENSP00000218147:N1499S;ENSP00000307541:N1573S;ENSP00000352253:N1369S;ENSP00000437775:N1499S;ENSP00000399483:N1173S	ENSP00000218147:N1499S	N	+	2	0	BCORL1	129000816	0.998000	0.40836	0.926000	0.36857	0.588000	0.36517	3.870000	0.56070	1.739000	0.51704	0.430000	0.28490	AAT		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		52	61	0	0	0	0.870114	0	52	61				
MFAP4	4239	broad.mit.edu	37	17	19287984	19287984	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:19287984T>C	ENST00000299610.4	-	6	643	c.559A>G	c.(559-561)Acc>Gcc	p.T187A	MFAP4_ENST00000395592.2_Missense_Mutation_p.T211A|MFAP4_ENST00000497081.2_Missense_Mutation_p.T212A|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	187	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGGTCGAAGGTAGAGAACTTC	0.612																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(631-633)Acc>Gcc		microfibrillar-associated protein 4							79.0	85.0	83.0					17																	19287984		2203	4300	6503	SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19287984T>C	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.559A>G	17.37:g.19287984T>C	ENSP00000299610:p.Thr187Ala					MFAP4_ENST00000299610.4_Missense_Mutation_p.T187A|MFAP4_ENST00000497081.2_Missense_Mutation_p.T212A	p.T211A	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			6	702	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		187			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	c.631A>G	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	t	18.39	3.613938	0.66672	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.40225	1.04;1.04	3.94	3.94	0.45596	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.64402	D	0.000020	T	0.61924	0.2386	M	0.79123	2.44	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.70487	0.963;0.969	T	0.66933	-0.5798	10	0.87932	D	0	.	11.1118	0.48237	0.0:0.0:0.0:1.0	.	187;211	P55083;A8MVM2	MFAP4_HUMAN;.	A	211;187	ENSP00000378957:T211A;ENSP00000299610:T187A	ENSP00000299610:T187A	T	-	1	0	MFAP4	19228577	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.596000	0.82721	1.788000	0.52465	0.449000	0.29647	ACC		0.612	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		48	109	0	0	0	0.870114	0	48	109				
ORC1	4998	broad.mit.edu	37	1	52841244	52841244	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:52841244G>A	ENST00000371568.3	-	15	2379	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	ORC1_ENST00000371566.1_Missense_Mutation_p.R721W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	721	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCCAGGCACCGTCGTGCATCT	0.547																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2161-2163)Cgg>Tgg		origin recognition complex, subunit 1							109.0	99.0	103.0					1																	52841244		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52841244G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2161C>T	1.37:g.52841244G>A	ENSP00000360623:p.Arg721Trp					ORC1_ENST00000371566.1_Missense_Mutation_p.R721W	p.R721W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			15	2379	-			721			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.2161C>T	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698404	0.88830	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.58210	0.35;0.35	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85229	0.1031	10	0.87932	D	0	-13.6439	14.2705	0.66149	0.0:0.0:0.8514:0.1486	.	716;721	B7Z8H0;Q13415	.;ORC1_HUMAN	W	721	ENSP00000360623:R721W;ENSP00000360621:R721W	ENSP00000360621:R721W	R	-	1	2	ORC1	52613832	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.632000	0.67819	2.817000	0.96982	0.563000	0.77884	CGG		0.547	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		45	30	0	0	0	0.870114	0	45	30				
SAMD15	161394	broad.mit.edu	37	14	77844713	77844713	+	Silent	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:77844713A>C	ENST00000216471.4	+	1	1238	c.952A>C	c.(952-954)Aga>Cga	p.R318R	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	318										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCACAAGCCAAGAAAGTCTAC	0.433																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(952-954)Aga>Cga		sterile alpha motif domain containing 15							82.0	83.0	83.0					14																	77844713		2203	4300	6503	SO:0001819	synonymous_variant	161394							g.chr14:77844713A>C	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.952A>C	14.37:g.77844713A>C						SAMD15_ENST00000533095.2_Intron	p.R318R	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	1238	+			318					Q2M3P3	Silent	SNP	ENST00000216471.4	37	c.952A>C	CCDS32126.1																																																																																				0.433	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		28	66	0	0	0	0.827153	0	28	66				
SNAPC5	10302	broad.mit.edu	37	15	66790065	66790065	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:66790065A>G	ENST00000316634.5	-	1	86	c.5T>C	c.(4-6)cTg>cCg	p.L2P	SNAPC5_ENST00000563480.2_Missense_Mutation_p.L2P|SNAPC5_ENST00000566658.1_Missense_Mutation_p.L2P|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000395589.2_Missense_Mutation_p.L2P|SNAPC5_ENST00000307979.7_Missense_Mutation_p.L2P			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	2					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						AAGCCGGCTCAGCATGTTGCC	0.682											OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316634.5																			0				breast(1)|large_intestine(1)	2						c.(4-6)cTg>cCg		small nuclear RNA activating complex, polypeptide 5, 19kDa							59.0	51.0	54.0					15																	66790065		2201	4299	6500	SO:0001583	missense	10302				transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr15:66790065A>G	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.5T>C	15.37:g.66790065A>G	ENSP00000319597:p.Leu2Pro		OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1094	SNAPC5_ENST00000307979.7_Missense_Mutation_p.L2P|SNAPC5_ENST00000566658.1_Missense_Mutation_p.L2P|SNAPC5_ENST00000395589.2_Missense_Mutation_p.L2P|SNAPC5_ENST00000563480.2_Missense_Mutation_p.L2P	p.L2P			O75971	SNPC5_HUMAN			1	86	-			2					A8K7N6|Q96CF3	Missense_Mutation	SNP	ENST00000316634.5	37	c.5T>C	CCDS10217.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354360	0.41700	.	.	ENSG00000174446	ENST00000395589;ENST00000316634;ENST00000307979	.	.	.	5.19	5.19	0.71726	.	0.079872	0.49916	D	0.000140	T	0.79839	0.4515	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83123	-0.0117	8	0.87932	D	0	-8.2125	14.7237	0.69326	1.0:0.0:0.0:0.0	.	2	O75971	SNPC5_HUMAN	P	2	.	ENSP00000308439:L2P	L	-	2	0	SNAPC5	64577119	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.642000	0.54367	1.956000	0.56807	0.528000	0.53228	CTG		0.682	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2			17	41	0	0	0	0.592651	0	17	41				
ZNF366	167465	broad.mit.edu	37	5	71756853	71756853	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:71756853G>T	ENST00000318442.5	-	2	961	c.471C>A	c.(469-471)ccC>ccA	p.P157P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	157					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACACGGCGCTGGGCTTAATGG	0.607																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(469-471)ccC>ccA		zinc finger protein 366							101.0	110.0	107.0					5																	71756853		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756853G>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.471C>A	5.37:g.71756853G>T							p.P157P	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	961	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	157					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.471C>A	CCDS4015.1																																																																																				0.607	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			6	215	1	0	5.18039e-06	0.278610	5.35903e-06	6	215				
MFSD8	256471	broad.mit.edu	37	4	128842707	128842707	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:128842707T>C	ENST00000296468.3	-	12	1449	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	MFSD8_ENST00000513559.1_Missense_Mutation_p.Y396C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	441					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AATTTTTGAATATAGAGTATA	0.408																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1321-1323)tAt>tGt		major facilitator superfamily domain containing 8							64.0	71.0	68.0					4																	128842707		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128842707T>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1322A>G	4.37:g.128842707T>C	ENSP00000296468:p.Tyr441Cys					MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.Y396C	p.Y441C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			12	1449	-			441					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.1322A>G	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787568	0.70337	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.74315	-0.83;-0.83	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87827	0.2642	10	0.72032	D	0.01	-11.7489	15.1685	0.72850	0.0:0.0:0.0:1.0	.	441	Q8NHS3	MFSD8_HUMAN	C	441;396	ENSP00000296468:Y441C;ENSP00000425000:Y396C	ENSP00000296468:Y441C	Y	-	2	0	MFSD8	129062157	1.000000	0.71417	0.961000	0.40146	0.788000	0.44548	7.015000	0.76387	2.170000	0.68504	0.459000	0.35465	TAT		0.408	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		52	39	0	0	0	0.870114	0	52	39				
ZNF750	79755	broad.mit.edu	37	17	80789303	80789303	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:80789303C>T	ENST00000269394.3	-	2	1861	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	343					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R343L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTGATCTCGGGTGAGGCC	0.532																																						ENST00000269394.3																			1	Substitution - Missense(1)	p.R343L(1)	lung(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1027-1029)cGa>cAa		zinc finger protein 750							119.0	130.0	126.0					17																	80789303		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80789303C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1028G>A	17.37:g.80789303C>T	ENSP00000269394:p.Arg343Gln					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000355528.4_Intron	p.R343Q	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1861	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	343					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1028G>A	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516323	0.12944	.	.	ENSG00000141579	ENST00000269394	T	0.14391	2.51	4.77	0.484	0.16825	.	0.376751	0.24415	N	0.038739	T	0.08403	0.0209	L	0.43152	1.355	0.09310	N	0.999999	P	0.36249	0.545	B	0.23716	0.048	T	0.27434	-1.0074	9	.	.	.	-5.7267	8.2821	0.31906	0.0:0.6065:0.0:0.3935	.	343	Q32MQ0	ZN750_HUMAN	Q	343	ENSP00000269394:R343Q	.	R	-	2	0	ZNF750	78382592	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.745000	0.26259	-0.034000	0.13713	-0.253000	0.11424	CGA		0.532	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		66	158	0	0	0	0.870114	0	66	158				
TFAP2D	83741	broad.mit.edu	37	6	50740509	50740509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:50740509G>T	ENST00000008391.3	+	8	1519	c.1291G>T	c.(1291-1293)Gag>Tag	p.E431*		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGCCAACTCGGAGAAAGCTCC	0.478																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1291-1293)Gag>Tag		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							59.0	54.0	56.0					6																	50740509		2203	4300	6503	SO:0001587	stop_gained	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740509G>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1291G>T	6.37:g.50740509G>T	ENSP00000008391:p.Glu431*						p.E431*	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1519	+	Lung NSC(77;0.0334)		431						Nonsense_Mutation	SNP	ENST00000008391.3	37	c.1291G>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	37	6.518983	0.97633	.	.	ENSG00000008197	ENST00000008391	.	.	.	5.54	5.54	0.83059	.	0.165827	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.0069	19.4769	0.94992	0.0:0.0:1.0:0.0	.	.	.	.	X	431	.	ENSP00000008391:E431X	E	+	1	0	TFAP2D	50848468	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.607000	0.88179	0.467000	0.42956	GAG		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		4	50	1	0	0.00909568	0.150653	0.0092275	4	50				
PCDHB7	56129	broad.mit.edu	37	5	140554722	140554722	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140554722T>A	ENST00000231137.3	+	1	2480	c.2306T>A	c.(2305-2307)aTc>aAc	p.I769N	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	769					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACCAATTATCCCCAACCTG	0.493																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2305-2307)aTc>aAc									78.0	115.0	103.0					5																	140554722		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554722T>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2306T>A	5.37:g.140554722T>A	ENSP00000231137:p.Ile769Asn						p.I769N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2480	+			769					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2306T>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470815	0.26423	.	.	ENSG00000113212	ENST00000231137	T	0.16073	2.37	4.33	1.85	0.25348	.	.	.	.	.	T	0.17365	0.0417	L	0.58302	1.8	0.09310	N	1	P	0.36909	0.573	B	0.38500	0.275	T	0.15809	-1.0424	9	0.46703	T	0.11	.	5.4048	0.16316	0.1548:0.0893:0.0:0.7558	.	769	Q9Y5E2	PCDB7_HUMAN	N	769	ENSP00000231137:I769N	ENSP00000231137:I769N	I	+	2	0	PCDHB7	140534906	0.018000	0.18449	0.000000	0.03702	0.102000	0.19082	1.131000	0.31406	0.155000	0.19261	0.374000	0.22700	ATC		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		9	66	0	0	0	0.557998	0	9	66				
GPR112	139378	broad.mit.edu	37	X	135431755	135431755	+	Missense_Mutation	SNP	A	A	G	rs181533402		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:135431755A>G	ENST00000394143.1	+	6	6181	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	GPR112_ENST00000394141.1_Missense_Mutation_p.I1759V|GPR112_ENST00000412101.1_Missense_Mutation_p.I1759V|GPR112_ENST00000287534.4_Missense_Mutation_p.I1901V|GPR112_ENST00000370652.1_Missense_Mutation_p.I1964V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1964					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTAAGAGCTATCACTTCCAC	0.418													a|||	1	0.000264901	0.0008	0.0	3775	,	,		16526	0.0		0.0	False		,,,				2504	0.0					ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5890-5892)Atc>Gtc		G protein-coupled receptor 112							106.0	100.0	102.0					X																	135431755		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431755A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5890A>G	X.37:g.135431755A>G	ENSP00000377699:p.Ile1964Val					GPR112_ENST00000412101.1_Missense_Mutation_p.I1759V|GPR112_ENST00000394141.1_Missense_Mutation_p.I1759V|GPR112_ENST00000370652.1_Missense_Mutation_p.I1964V|GPR112_ENST00000287534.4_Missense_Mutation_p.I1901V	p.I1964V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6181	+	Acute lymphoblastic leukemia(192;0.000127)		1964					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5890A>G	CCDS35409.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	a	0.013	-1.629845	0.00813	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30448	1.56;1.56;1.53;1.66;1.53	4.21	-1.5	0.08691	.	.	.	.	.	T	0.14485	0.0350	N	0.24115	0.695	0.09310	N	1	B;B;B	0.21606	0.058;0.009;0.028	B;B;B	0.14023	0.01;0.003;0.007	T	0.25117	-1.0141	9	0.32370	T	0.25	.	0.4355	0.00478	0.35:0.2338:0.2425:0.1737	.	1901;1759;1964	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1964;1964;1759;1901;1759	ENSP00000377699:I1964V;ENSP00000359686:I1964V;ENSP00000416526:I1759V;ENSP00000287534:I1901V;ENSP00000377697:I1759V	ENSP00000287534:I1901V	I	+	1	0	GPR112	135259421	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.327000	0.19663	-0.283000	0.09115	0.430000	0.28490	ATC		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			88	70	0	0	0	0.870114	0	88	70				
TLN1	7094	broad.mit.edu	37	9	35714321	35714321	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:35714321T>G	ENST00000314888.9	-	24	3388	c.3035A>C	c.(3034-3036)cAg>cCg	p.Q1012P	TLN1_ENST00000540444.1_Missense_Mutation_p.Q1012P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1012					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTGGTCCTGAATCGTTGG	0.597																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(3034-3036)cAg>cCg		talin 1							78.0	68.0	71.0					9																	35714321		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35714321T>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3035A>C	9.37:g.35714321T>G	ENSP00000316029:p.Gln1012Pro					TLN1_ENST00000540444.1_Missense_Mutation_p.Q1012P	p.Q1012P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		24	3388	-	all_epithelial(49;0.167)		1012					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.3035A>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445672	0.43429	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.67698	-0.28;-0.28	5.91	5.91	0.95273	.	0.244344	0.45361	D	0.000377	T	0.50017	0.1591	N	0.14661	0.345	0.35853	D	0.826892	B	0.06786	0.001	B	0.09377	0.004	T	0.56817	-0.7916	10	0.66056	D	0.02	-17.859	11.7572	0.51882	0.0:0.0:0.2616:0.7384	.	1012	Q9Y490	TLN1_HUMAN	P	1012	ENSP00000316029:Q1012P;ENSP00000442981:Q1012P	ENSP00000316029:Q1012P	Q	-	2	0	TLN1	35704321	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.073000	0.41519	2.266000	0.75297	0.533000	0.62120	CAG		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		46	23	0	0	0	0.870114	0	46	23				
TRGV2	6974	broad.mit.edu	37	7	38402622	38402622	+	RNA	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:38402622T>A	ENST00000426402.2	-	0	386									T cell receptor gamma variable 2																		GTCATAGTACTGAAGACGCTG	0.473																																						ENST00000426402.2																			0																				111.0	102.0	105.0					7																	38402622		1929	4152	6081			6974							g.chr7:38402622T>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402622T>A														0	386	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.473	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		11	117	0	0	0	0.667858	0	11	117				
GATAD2A	54815	broad.mit.edu	37	19	19609378	19609378	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:19609378G>A	ENST00000360315.3	+	8	1363	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	GATAD2A_ENST00000404158.1_Missense_Mutation_p.A351T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	351	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGCCAAGCTGGCGCTGCGCAA	0.647																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1051-1053)Gcg>Acg		GATA zinc finger domain containing 2A							34.0	37.0	36.0					19																	19609378		2202	4300	6502	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19609378G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1051G>A	19.37:g.19609378G>A	ENSP00000353463:p.Ala351Thr					GATAD2A_ENST00000360315.3_Missense_Mutation_p.A351T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178T	p.A351T			Q86YP4	P66A_HUMAN			10	1469	+			351					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1051G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612977	0.87258	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.61392	0.85;0.5;1.13;0.85;0.11	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.78513	-0.2175	9	.	.	.	-26.9323	18.3542	0.90351	0.0:0.0:1.0:0.0	.	178;370;351	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	351;351;370;351;178	ENSP00000353463:A351T;ENSP00000252577:A351T;ENSP00000384899:A370T;ENSP00000351552:A351T;ENSP00000388416:A178T	.	A	+	1	0	GATAD2A	19470378	1.000000	0.71417	0.800000	0.32199	0.160000	0.22226	9.841000	0.99482	2.691000	0.91804	0.650000	0.86243	GCG		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		6	12	0	0	0	0.479597	0	6	12				
CLIP3	25999	broad.mit.edu	37	19	36509856	36509856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36509856C>T	ENST00000360535.4	-	9	1354	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	CLIP3_ENST00000593074.1_Missense_Mutation_p.R376Q|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	376					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGGGGTCCGGGGTGTGGA	0.617																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1126-1128)cGg>cAg		CAP-GLY domain containing linker protein 3							60.0	63.0	62.0					19																	36509856		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36509856C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1127G>A	19.37:g.36509856C>T	ENSP00000353732:p.Arg376Gln					CLIP3_ENST00000593074.1_Missense_Mutation_p.R376Q|AC002116.7_ENST00000586962.1_RNA	p.R376Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1354	-	Esophageal squamous(110;0.162)		376					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1127G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432605	0.62844	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.73681	-0.77	4.87	4.87	0.63330	Cytoskeleton-associated protein, Gly-rich domain (1);	0.054744	0.64402	D	0.000002	T	0.49270	0.1547	N	0.08118	0	0.47905	D	0.999541	P	0.43352	0.804	B	0.25614	0.062	T	0.59742	-0.7397	10	0.41790	T	0.15	-26.0622	15.5566	0.76200	0.0:1.0:0.0:0.0	.	376	Q96DZ5	CLIP3_HUMAN	Q	376;258;352	ENSP00000353732:R376Q	ENSP00000353732:R376Q	R	-	2	0	CLIP3	41201696	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	1.788000	0.38714	2.558000	0.86282	0.650000	0.86243	CGG		0.617	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		38	66	0	0	0	0.819951	0	38	66				
USP43	124739	broad.mit.edu	37	17	9631817	9631817	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:9631817T>C	ENST00000285199.7	+	15	2978	c.2882T>C	c.(2881-2883)aTg>aCg	p.M961T	USP43_ENST00000570475.1_Missense_Mutation_p.M956T|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	961					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.M962T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCTTCCAGATGGGAAGCAAA	0.567																																						ENST00000570827.2																			1	Substitution - Missense(1)	p.M962T(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1948-1950)aTg>aCg		ubiquitin specific peptidase 43							35.0	39.0	38.0					17																	9631817		1960	4146	6106	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631817T>C	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2882T>C	17.37:g.9631817T>C	ENSP00000285199:p.Met961Thr					USP43_ENST00000570475.1_Missense_Mutation_p.M956T|USP43_ENST00000285199.6_Missense_Mutation_p.M961T	p.M650T			Q70EL4	UBP43_HUMAN			15	3023	+			961					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1949T>C	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	T	2.973	-0.212096	0.06140	.	.	ENSG00000154914	ENST00000285199	T	0.07444	3.19	4.74	0.0227	0.14134	.	12.672000	0.00166	N	0.000000	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.35301	-0.9794	10	0.05525	T	0.97	0.4296	3.3948	0.07302	0.1763:0.2358:0.0:0.588	.	956;650;961;473	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	T	961	ENSP00000285199:M961T	ENSP00000285199:M961T	M	+	2	0	USP43	9572542	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.493000	0.06459	-0.171000	0.10797	-0.256000	0.11100	ATG		0.567	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		8	26	0	0	0	0.307466	0	8	26				
BBC3	27113	broad.mit.edu	37	19	47725155	47725155	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:47725155C>T	ENST00000439096.2	-	4	766	c.486G>A	c.(484-486)cgG>cgA	p.R162R	BBC3_ENST00000300880.7_Missense_Mutation_p.A37T|BBC3_ENST00000449228.1_Missense_Mutation_p.A197T|BBC3_ENST00000341983.4_Silent_p.R100R	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	162					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		AGGGGCGGTGCCGCTGCTGCT	0.612																																						ENST00000449228.1																			0				endometrium(1)|lung(2)|skin(1)	4						c.(589-591)Gca>Aca		BCL2 binding component 3							47.0	47.0	47.0					19																	47725155		2202	4300	6502	SO:0001819	synonymous_variant	27113				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding	g.chr19:47725155C>T	AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.486G>A	19.37:g.47725155C>T						BBC3_ENST00000439096.2_Silent_p.R162R|BBC3_ENST00000341983.4_Silent_p.R100R|BBC3_ENST00000300880.7_Missense_Mutation_p.A37T	p.A197T	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)	4	752	-		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	103					B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	ENST00000439096.2	37	c.589G>A	CCDS12697.1	.	.	.	.	.	.	.	.	.	.	c	9.371	1.070470	0.20147	.	.	ENSG00000105327	ENST00000449228;ENST00000300880	.	.	.	4.68	0.0197	0.14122	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08106	-1.0738	7	0.22109	T	0.4	.	7.5963	0.28050	0.0:0.4547:0.0:0.5453	.	197;37	E9PAW3;Q96PG8	.;.	T	197;37	.	ENSP00000300880:A37T	A	-	1	0	BBC3	52416995	0.996000	0.38824	0.999000	0.59377	0.866000	0.49608	-0.013000	0.12678	0.029000	0.15352	-1.004000	0.02495	GCA		0.612	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466874.1	NM_014417		4	45	0	0	0	0.150653	0	4	45				
DLC1	10395	broad.mit.edu	37	8	13356895	13356895	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:13356895G>A	ENST00000276297.4	-	2	1095	c.686C>T	c.(685-687)gCt>gTt	p.A229V	DLC1_ENST00000316609.5_Missense_Mutation_p.A229V|DLC1_ENST00000511869.1_Missense_Mutation_p.A229V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	229					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCAATTACAGCAGAGTTAAG	0.388																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(685-687)gCt>gTt		deleted in liver cancer 1							156.0	154.0	155.0					8																	13356895		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356895G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.686C>T	8.37:g.13356895G>A	ENSP00000276297:p.Ala229Val					DLC1_ENST00000511869.1_Missense_Mutation_p.A229V|DLC1_ENST00000316609.5_Missense_Mutation_p.A229V	p.A229V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1095	-			229					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.686C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666578	0.67814	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.13307	3.61;2.6;2.63	4.84	4.84	0.62591	.	0.000000	0.40818	N	0.001020	T	0.25121	0.0610	L	0.55990	1.75	0.36993	D	0.894868	D;P;B	0.65815	0.995;0.946;0.053	P;P;B	0.56474	0.799;0.781;0.033	T	0.02588	-1.1137	10	0.40728	T	0.16	.	12.8932	0.58084	0.0783:0.0:0.9217:0.0	.	229;229;229	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	V	229	ENSP00000276297:A229V;ENSP00000321034:A229V;ENSP00000425878:A229V	ENSP00000276297:A229V	A	-	2	0	DLC1	13401266	1.000000	0.71417	0.993000	0.49108	0.922000	0.55478	3.833000	0.55790	2.658000	0.90341	0.655000	0.94253	GCT		0.388	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		42	436	0	0	0	0.819951	0	42	436				
ALX4	60529	broad.mit.edu	37	11	44297022	44297022	+	Missense_Mutation	SNP	C	C	T	rs104894193		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:44297022C>T	ENST00000329255.3	-	2	756	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	218			R -> Q (in PFM2). {ECO:0000269|PubMed:11137991}.		anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R218Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GAAGGTGGTCCGGTTCCGCCG	0.632																																						ENST00000329255.3																			1	Substitution - Missense(1)	p.R218Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM010011	ALX4	M	rs104894193	c.(652-654)cGg>cAg		ALX homeobox 4							147.0	155.0	152.0					11																	44297022		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44297022C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.653G>A	11.37:g.44297022C>T	ENSP00000332744:p.Arg218Gln						p.R218Q	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			2	756	-			218		R -> Q (in PFM2).			Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.653G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099847	0.76983	.	.	ENSG00000052850	ENST00000329255	D	0.99150	-5.49	3.62	3.62	0.41486	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.204036	0.40908	N	0.000991	D	0.99600	0.9855	H	0.99286	4.5	0.80722	A	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97329	0.9949	9	0.87932	D	0	.	15.4743	0.75465	0.0:1.0:0.0:0.0	.	218	Q9H161	ALX4_HUMAN	Q	218	ENSP00000332744:R218Q	ENSP00000332744:R218Q	R	-	2	0	ALX4	44253598	1.000000	0.71417	0.928000	0.36995	0.905000	0.53344	7.620000	0.83070	1.856000	0.53863	0.455000	0.32223	CGG		0.632	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			97	218	0	0	0	0.870114	0	97	218				
MSGN1	343930	broad.mit.edu	37	2	17998261	17998261	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:17998261G>A	ENST00000281047.3	+	1	499	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	159	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCCAGAGAGGCCAGCCTCTC	0.587																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(475-477)gGc>gAc		mesogenin 1							40.0	47.0	45.0					2																	17998261		2101	4224	6325	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998261G>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.476G>A	2.37:g.17998261G>A	ENSP00000281047:p.Gly159Asp						p.G159D	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	499	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		159			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000281047.3	37	c.476G>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548210	0.86127	.	.	ENSG00000151379	ENST00000281047	D	0.97831	-4.56	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (5);	0.051167	0.85682	D	0.000000	D	0.97473	0.9173	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93826	0.7123	10	0.02654	T	1	-16.341	20.428	0.99075	0.0:0.0:1.0:0.0	.	159	A6NI15	MSGN1_HUMAN	D	159	ENSP00000281047:G159D	ENSP00000281047:G159D	G	+	2	0	MSGN1	17861742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.837000	0.97791	0.655000	0.94253	GGC		0.587	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		14	20	0	0	0	0.557998	0	14	20				
DEPDC5	9681	broad.mit.edu	37	22	32188793	32188793	+	Missense_Mutation	SNP	G	G	A	rs12158711	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:32188793G>A	ENST00000382112.3	+	11	827	c.757G>A	c.(757-759)Gac>Aac	p.D253N	DEPDC5_ENST00000400246.1_Missense_Mutation_p.D253N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D253N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000400248.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.D225N	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	253					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTATGAAGACTTTTACAA	0.368																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(757-759)Gac>Aac		DEP domain containing 5							134.0	125.0	127.0					22																	32188793		1813	4080	5893	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32188793G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.757G>A	22.37:g.32188793G>A	ENSP00000371546:p.Asp253Asn					DEPDC5_ENST00000536766.1_Missense_Mutation_p.D225N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D253N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D253N	p.D253N			O75140	DEPD5_HUMAN			12	899	+			253					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.757G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	-	31	5.097048	0.94197	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.75938	-0.56;-0.42;-0.98;-0.19;-0.31;-0.28;-0.52;-0.32;-0.28;-0.31	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.992;0.997;0.999;0.999	D	0.92069	0.5663	10	0.87932	D	0	.	17.9795	0.89137	0.0:0.0:1.0:0.0	rs12158711;rs12158711	253;225;253;253;253;253	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	N	253;225;253;253;253;253;253;253;253;253;253	ENSP00000440210:D253N;ENSP00000441358:D225N;ENSP00000383101:D253N;ENSP00000266091:D253N;ENSP00000383108:D253N;ENSP00000383105:D253N;ENSP00000371539:D253N;ENSP00000371546:D253N;ENSP00000371545:D253N;ENSP00000383107:D253N	ENSP00000266091:D253N	D	+	1	0	DEPDC5	30518793	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.408000	0.97327	2.493000	0.84123	0.567000	0.79289	GAC		0.368	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		14	123	0	0	0	0.479597	0	14	123				
STRN	6801	broad.mit.edu	37	2	37193392	37193392	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:37193392A>G	ENST00000263918.4	-	1	223	c.215T>C	c.(214-216)gTg>gCg	p.V72A	STRN_ENST00000379213.2_Missense_Mutation_p.V60A	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	72					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CGCCCGCTCCACCTCCCACTG	0.716																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(214-216)gTg>gCg		striatin, calmodulin binding protein							11.0	12.0	12.0					2																	37193392		2163	4259	6422	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37193392A>G	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.215T>C	2.37:g.37193392A>G	ENSP00000263918:p.Val72Ala					STRN_ENST00000379213.2_Missense_Mutation_p.V60A	p.V72A	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			1	223	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	72					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.215T>C	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276197	0.40294	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.66280	-0.2;-0.2	3.73	3.73	0.42828	Striatin, N-terminal (1);	0.074652	0.52532	D	0.000070	T	0.41096	0.1144	N	0.20685	0.6	0.42587	D	0.993234	B;B	0.17667	0.023;0.003	B;B	0.22880	0.041;0.042	T	0.20405	-1.0276	10	0.18276	T	0.48	-8.1118	6.2735	0.20966	0.8332:0.0:0.1668:0.0	.	60;72	O43815-2;O43815	.;STRN_HUMAN	A	72;47;60	ENSP00000263918:V72A;ENSP00000368513:V60A	ENSP00000263918:V72A	V	-	2	0	STRN	37046896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.962000	0.63687	1.546000	0.49388	0.392000	0.25879	GTG		0.716	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			3	4	0	0	0	0.115264	0	3	4				
ZNF862	643641	broad.mit.edu	37	7	149545507	149545507	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:149545507G>C	ENST00000223210.4	+	4	1170	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGATGCAGTAGAATCCTGCAT	0.348																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(925-927)Gaa>Caa		zinc finger protein 862							7.0	8.0	7.0					7																	149545507		1692	3775	5467	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545507G>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.925G>C	7.37:g.149545507G>C	ENSP00000223210:p.Glu309Gln						p.E309Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			4	1170	+			309					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.925G>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835483	0.32421	.	.	ENSG00000106479	ENST00000223210	T	0.01185	5.21	5.04	5.04	0.67666	.	0.116409	0.38217	N	0.001770	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	0.999998	P	0.37781	0.608	B	0.37943	0.261	T	0.51585	-0.8687	10	0.66056	D	0.02	-9.2073	13.9214	0.63933	0.0:0.0:1.0:0.0	.	309	O60290	ZN862_HUMAN	Q	309	ENSP00000223210:E309Q	ENSP00000223210:E309Q	E	+	1	0	ZNF862	149176440	0.261000	0.24063	0.175000	0.22980	0.131000	0.20780	2.330000	0.43885	2.352000	0.79861	0.650000	0.86243	GAA		0.348	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		3	9	0	0	0	0.115264	0	3	9				
KIF18A	81930	broad.mit.edu	37	11	28116199	28116199	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:28116199T>C	ENST00000263181.6	-	3	764	c.474A>G	c.(472-474)tcA>tcG	p.S158S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	158	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCTCCAGATATGAAACTGCAG	0.323																																						ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(472-474)tcA>tcG		kinesin family member 18A							137.0	131.0	133.0					11																	28116199		2202	4299	6501	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28116199T>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.474A>G	11.37:g.28116199T>C							p.S158S	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			3	764	-			158			Kinesin-motor.		Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.474A>G	CCDS7867.1																																																																																				0.323	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		7	285	0	0	0	0.307466	0	7	285				
DHX8	1659	broad.mit.edu	37	17	41582145	41582145	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:41582145G>A	ENST00000262415.3	+	12	1752	c.1680G>A	c.(1678-1680)gaG>gaA	p.E560E	DHX8_ENST00000540306.1_Silent_p.E560E	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	560					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CAATCCTTGAGCAGAGGGAGA	0.463																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1678-1680)gaG>gaA		DEAH (Asp-Glu-Ala-His) box polypeptide 8							107.0	106.0	107.0					17																	41582145		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582145G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1680G>A	17.37:g.41582145G>A						DHX8_ENST00000540306.1_Silent_p.E560E	p.E560E	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1752	+		Breast(137;0.00908)	560						Silent	SNP	ENST00000262415.3	37	c.1680G>A	CCDS11464.1																																																																																				0.463	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			69	144	0	0	0	0.870114	0	69	144				
C20orf194	25943	broad.mit.edu	37	20	3240664	3240664	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:3240664T>C	ENST00000252032.9	-	32	2951	c.2884A>G	c.(2884-2886)Aaa>Gaa	p.K962E	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	962										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GCATTCAATTTACCTTCATAC	0.493																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2884-2886)Aaa>Gaa		chromosome 20 open reading frame 194							62.0	58.0	59.0					20																	3240664		1862	4093	5955	SO:0001583	missense	25943							g.chr20:3240664T>C	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2884A>G	20.37:g.3240664T>C	ENSP00000252032:p.Lys962Glu					C20orf194_ENST00000453730.2_3'UTR	p.K962E	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			32	2951	-			962					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2884A>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554778	0.65425	.	.	ENSG00000088854	ENST00000252032	T	0.18016	2.24	5.16	5.16	0.70880	.	0.268825	0.37219	N	0.002181	T	0.18923	0.0454	L	0.44542	1.39	0.80722	D	1	B;P	0.46512	0.356;0.879	B;P	0.45639	0.164;0.488	T	0.01330	-1.1383	10	0.38643	T	0.18	.	11.0717	0.48008	0.0:0.0:0.1551:0.8449	.	701;962	Q0IIP3;Q5TEA3	.;CT194_HUMAN	E	962	ENSP00000252032:K962E	ENSP00000252032:K962E	K	-	1	0	C20orf194	3188664	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.948000	0.49066	1.940000	0.56252	0.448000	0.29417	AAA		0.493	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		26	53	0	0	0	0.693898	0	26	53				
C4BPA	722	broad.mit.edu	37	1	207300202	207300202	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:207300202A>G	ENST00000367070.3	+	7	1045	c.851A>G	c.(850-852)gAt>gGt	p.D284G		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	284	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTGATGCTGATAGCAAATGG	0.403																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(850-852)gAt>gGt		complement component 4 binding protein, alpha							178.0	150.0	160.0					1																	207300202		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207300202A>G	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.851A>G	1.37:g.207300202A>G	ENSP00000356037:p.Asp284Gly						p.D284G	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			7	1045	+			284			Sushi 4.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.851A>G	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052883	0.36181	.	.	ENSG00000123838	ENST00000367070	T	0.68181	-0.31	5.61	4.49	0.54785	Complement control module (2);Sushi/SCR/CCP (3);	0.333263	0.25680	N	0.029005	T	0.66268	0.2772	L	0.55213	1.73	0.09310	N	1	B	0.29481	0.245	B	0.41202	0.35	T	0.60782	-0.7195	10	0.48119	T	0.1	.	8.4965	0.33132	0.9117:0.0:0.0883:0.0	.	284	P04003	C4BPA_HUMAN	G	284	ENSP00000356037:D284G	ENSP00000356037:D284G	D	+	2	0	C4BPA	205366825	0.028000	0.19301	0.002000	0.10522	0.115000	0.19883	3.238000	0.51352	0.945000	0.37605	-0.386000	0.06593	GAT		0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			55	151	0	0	0	0.870114	0	55	151				
PCDH11X	27328	broad.mit.edu	37	X	91090852	91090852	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:91090852G>T	ENST00000373094.1	+	1	1194	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	PCDH11X_ENST00000361724.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D117Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D117Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATTTTGCCGGATGAAATATT	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(349-351)Gat>Tat		protocadherin 11 X-linked							74.0	68.0	70.0					X																	91090852		2202	4281	6483	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090852G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.349G>T	X.37:g.91090852G>T	ENSP00000362186:p.Asp117Tyr					PCDH11X_ENST00000361724.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D117Y	p.D117Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1194	+			117			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.349G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642502	0.67244	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.59;0.61;0.55;0.62;0.59;0.59;0.61;0.62	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.77616	2.38	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.964;0.996;0.996;0.996;0.99;0.996;0.992	T	0.77365	-0.2615	10	0.72032	D	0.01	.	15.4133	0.74943	0.0:0.0:1.0:0.0	.	117;117;117;117;117;117;117;117	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	117	ENSP00000378746:D117Y;ENSP00000362186:D117Y;ENSP00000362189:D117Y;ENSP00000355040:D117Y;ENSP00000362180:D117Y;ENSP00000423762:D117Y;ENSP00000355105:D117Y;ENSP00000384758:D117Y;ENSP00000298274:D117Y	ENSP00000298274:D117Y	D	+	1	0	PCDH11X	90977508	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	5.852000	0.69488	2.173000	0.68751	0.506000	0.49869	GAT		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	167	1	0	0.00024832	0.150653	0.000255311	4	167				
ERBB3	2065	broad.mit.edu	37	12	56479046	56479046	+	Intron	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:56479046C>T	ENST00000267101.3	+	3	861				ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.L168F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3						cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCAAGACTGCTCACTCTAAG	0.582																																						ENST00000411731.2																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(502-504)Ctc>Ttc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							48.0	54.0	52.0					12																	56479046		1327	2309	3636	SO:0001627	intron_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56479046C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.421+81C>T	12.37:g.56479046C>T						ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000267101.3_Intron	p.L168F	NM_001005915.1	NP_001005915.1	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	666	+			0					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.502C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146488	0.37923	.	.	ENSG00000065361	ENST00000411731	T	0.37584	1.19	3.22	-2.45	0.06481	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.24693	-1.0153	7	.	.	.	.	4.3865	0.11319	0.0:0.3435:0.174:0.4825	.	168	P21860-2	.	F	168	ENSP00000415753:L168F	.	L	+	1	0	ERBB3	54765313	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.853000	0.04303	-0.578000	0.05959	-1.199000	0.01669	CTC		0.582	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			18	30	0	0	0	0.557998	0	18	30				
PCDHB7	56129	broad.mit.edu	37	5	140554720	140554720	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140554720T>A	ENST00000231137.3	+	1	2478	c.2304T>A	c.(2302-2304)atT>atA	p.I768I	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	768					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACCAATTATCCCCAACC	0.488																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2302-2304)atT>atA									79.0	117.0	104.0					5																	140554720		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554720T>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2304T>A	5.37:g.140554720T>A							p.I768I	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2478	+			768					A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.2304T>A	CCDS4249.1																																																																																				0.488	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		10	66	0	0	0	0.575678	0	10	66				
NVL	4931	broad.mit.edu	37	1	224505589	224505589	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:224505589C>T	ENST00000281701.6	-	3	434	c.175G>A	c.(175-177)Gta>Ata	p.V59I	NVL_ENST00000482491.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.V59I|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000340871.4_5'UTR|NVL_ENST00000391875.2_5'UTR|NVL_ENST00000468673.1_5'UTR	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	59						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CCTTTTTCTACCTGAATCCTA	0.294																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(175-177)Gta>Ata		nuclear VCP-like							88.0	89.0	89.0					1																	224505589		2200	4298	6498	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224505589C>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.175G>A	1.37:g.224505589C>T	ENSP00000281701:p.Val59Ile					NVL_ENST00000391875.2_5'UTR|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.V59I|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000340871.4_5'UTR	p.V59I	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	3	434	-			59					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.175G>A	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.832234|2.832234	0.50845|0.50845	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546	.|D;D	.|0.97256	.|-4.31;-4.07	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98403|0.98403	0.9469|0.9469	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.996;0.984;0.999	.|D;D;D	.|0.78314	.|0.99;0.967;0.991	D|D	0.99478|0.99478	1.0947|1.0947	5|10	.|0.87932	.|D	.|0	-19.9224|-19.9224	19.2961|19.2961	0.94122|0.94122	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|59;59;59	.|B4DF43;B4DP98;O15381	.|.;.;NVL_HUMAN	D|I	32|59	.|ENSP00000281701:V59I;ENSP00000417826:V59I	.|ENSP00000281701:V59I	G|V	-|-	2|1	0|0	NVL|NVL	222572212|222572212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.937000|3.937000	0.56575|0.56575	2.546000|2.546000	0.85860|0.85860	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.294	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		19	73	0	0	0	0.557998	0	19	73				
TMEM97	27346	broad.mit.edu	37	17	26653714	26653714	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:26653714C>T	ENST00000226230.6	+	3	571	c.426C>T	c.(424-426)acC>acT	p.T142T	TMEM97_ENST00000336687.6_Silent_p.T35T|TMEM97_ENST00000583381.1_Silent_p.T35T	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	142					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AACGGTTAACCCTTGTGTCTG	0.408																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(424-426)acC>acT		transmembrane protein 97							131.0	96.0	108.0					17																	26653714		2203	4300	6503	SO:0001819	synonymous_variant	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653714C>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.426C>T	17.37:g.26653714C>T						TMEM97_ENST00000583381.1_Silent_p.T35T|TMEM97_ENST00000336687.6_Silent_p.T35T	p.T142T	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	571	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		142					B4DS02|Q07823	Silent	SNP	ENST00000226230.6	37	c.426C>T	CCDS11226.2																																																																																				0.408	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		35	53	0	0	0	0.804634	0	35	53				
WDR72	256764	broad.mit.edu	37	15	53907852	53907852	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:53907852T>C	ENST00000396328.1	-	15	2790	c.2551A>G	c.(2551-2553)Agt>Ggt	p.S851G	WDR72_ENST00000559418.1_Missense_Mutation_p.S861G|WDR72_ENST00000557913.1_Missense_Mutation_p.S848G|WDR72_ENST00000360509.5_Missense_Mutation_p.S851G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	851										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCATTCCACTATTGCATAAA	0.353																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2551-2553)Agt>Ggt		WD repeat domain 72							56.0	58.0	57.0					15																	53907852		2193	4291	6484	SO:0001583	missense	256764							g.chr15:53907852T>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2551A>G	15.37:g.53907852T>C	ENSP00000379619:p.Ser851Gly					WDR72_ENST00000557913.1_Missense_Mutation_p.S848G|WDR72_ENST00000559418.1_Missense_Mutation_p.S861G|WDR72_ENST00000360509.5_Missense_Mutation_p.S851G	p.S851G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2790	-			851					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2551A>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	3.125	-0.179793	0.06380	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35048	1.33;1.33	5.72	-6.49	0.01890	.	1.029790	0.07672	N	0.935564	T	0.10981	0.0268	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	10	0.22109	T	0.4	.	0.2229	0.00170	0.3598:0.1852:0.1953:0.2596	.	851	Q3MJ13	WDR72_HUMAN	G	851	ENSP00000379619:S851G;ENSP00000353699:S851G	ENSP00000353699:S851G	S	-	1	0	WDR72	51695144	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-1.193000	0.03049	-0.656000	0.05380	-0.333000	0.08304	AGT		0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		64	124	0	0	0	0.870114	0	64	124				
AGTPBP1	23287	broad.mit.edu	37	9	88207490	88207490	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:88207490C>T	ENST00000357081.3	-	19	2697	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.T863T|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.T811T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	851					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGTTGAATACGTATATGGAT	0.279																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2551-2553)acG>acA		ATP/GTP binding protein 1							93.0	94.0	94.0					9																	88207490		2203	4297	6500	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88207490C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2553G>A	9.37:g.88207490C>T						AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.T863T|AGTPBP1_ENST00000376083.3_Silent_p.T811T|AGTPBP1_ENST00000432218.1_Intron	p.T851T			Q9UPW5	CBPC1_HUMAN			19	2697	-			851					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.2553G>A																																																																																					0.279	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		35	112	0	0	0	0.804634	0	35	112				
CNN2	1265	broad.mit.edu	37	19	1037669	1037669	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:1037669A>G	ENST00000263097.4	+	7	1063	c.700A>G	c.(700-702)Aag>Gag	p.K234E	CNN2_ENST00000565096.2_Missense_Mutation_p.K223E|CNN2_ENST00000562958.2_Missense_Mutation_p.K255E|ABCA7_ENST00000263094.6_5'Flank|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.K195E	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	234					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATGATACCAAGCTGGGAAC	0.637																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(700-702)Aag>Gag		calponin 2							88.0	101.0	96.0					19																	1037669		2184	4269	6453	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037669A>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.700A>G	19.37:g.1037669A>G	ENSP00000263097:p.Lys234Glu					CNN2_ENST00000565096.2_Missense_Mutation_p.K223E|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.K195E|CNN2_ENST00000562958.2_Missense_Mutation_p.K255E	p.K234E	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1063	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	234					A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.700A>G	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	a	25.7	4.661765	0.88154	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.35789	1.37;1.29	4.26	4.26	0.50523	.	0.000000	0.85682	U	0.000000	T	0.48909	0.1526	L	0.58510	1.815	0.44469	D	0.997405	D;D;P;P	0.59357	0.966;0.985;0.79;0.818	B;P;B;P	0.58013	0.395;0.831;0.318;0.462	T	0.52011	-0.8632	10	0.72032	D	0.01	.	11.3566	0.49620	1.0:0.0:0.0:0.0	.	255;223;195;234	B4DUT8;B4DDF4;A6NFI4;Q99439	.;.;.;CNN2_HUMAN	E	234;195;213	ENSP00000263097:K234E;ENSP00000340129:K195E	ENSP00000263097:K234E	K	+	1	0	CNN2	988669	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.277000	0.89896	1.782000	0.52362	0.454000	0.30748	AAG		0.637	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		101	87	0	0	0	0.870114	0	101	87				
CES1	1066	broad.mit.edu	37	16	55857583	55857583	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:55857583T>A	ENST00000361503.4	-	4	545	c.415A>T	c.(415-417)Atc>Ttc	p.I139F	CES1_ENST00000422046.2_Missense_Mutation_p.I139F|CES1_ENST00000360526.3_Missense_Mutation_p.I140F|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	139					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCTCCGTGGATCCACACCATC	0.557																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(415-417)Atc>Ttc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						61.0	55.0	57.0					16																	55857583		2196	4298	6494	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55857583T>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.415A>T	16.37:g.55857583T>A	ENSP00000355193:p.Ile139Phe					CES1_ENST00000361503.4_Missense_Mutation_p.I139F|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.I140F	p.I139F			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	696	-			139					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.415A>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398380	0.42512	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.80304	-1.36;-1.36;-1.36	4.05	2.89	0.33648	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000010	D	0.87249	0.6130	M	0.77712	2.385	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.994	D	0.84947	0.0869	10	0.54805	T	0.06	.	7.8756	0.29592	0.0:0.1069:0.0:0.893	.	139;139;140	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	140;139;139;4	ENSP00000353720:I140F;ENSP00000355193:I139F;ENSP00000390492:I139F	ENSP00000353720:I140F	I	-	1	0	CES1	54415084	1.000000	0.71417	0.988000	0.46212	0.133000	0.20885	4.509000	0.60448	0.401000	0.25424	0.329000	0.21502	ATC		0.557	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	54	0	0	0	0.335167	0	7	54				
UNC79	57578	broad.mit.edu	37	14	94088152	94088152	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:94088152C>T	ENST00000393151.2	+	30	4573	c.4573C>T	c.(4573-4575)Cgg>Tgg	p.R1525W	UNC79_ENST00000256339.4_Missense_Mutation_p.R1348W|UNC79_ENST00000555664.1_Missense_Mutation_p.R1525W|UNC79_ENST00000553484.1_Missense_Mutation_p.R1547W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1525					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCATAGATCGGTGTGACAT	0.453																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4639-4641)Cgg>Tgg		unc-79 homolog (C. elegans)							96.0	91.0	93.0					14																	94088152		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088152C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4573C>T	14.37:g.94088152C>T	ENSP00000376858:p.Arg1525Trp					UNC79_ENST00000555664.1_Missense_Mutation_p.R1525W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1525W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1348W	p.R1547W			Q9P2D8	UNC79_HUMAN			31	4793	+			1525					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4639C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.297820	0.81025	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25250	1.83;1.81;1.84;1.83	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.32530	0.975	0.54753	D	0.999982	D	0.71674	0.998	P	0.53224	0.721	T	0.03077	-1.1075	10	0.72032	D	0.01	-20.337	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1547	C9JQL1	.	W	1348;1525;1547;1525;1547	ENSP00000256339:R1348W;ENSP00000450868:R1525W;ENSP00000451360:R1547W;ENSP00000376858:R1525W	ENSP00000256339:R1348W	R	+	1	2	KIAA1409	93157905	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.656000	0.67988	2.847000	0.97988	0.591000	0.81541	CGG		0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		115	53	0	0	0	0.870114	0	115	53				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818582	159818582	+	RNA	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:159818582C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		GGACCGGAAGCGGCGCCGCAC	0.776																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159818582C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818582C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.776	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			14	3	0	0	0	0.557998	0	14	3				
IFIT1B	439996	broad.mit.edu	37	10	91143311	91143311	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:91143311T>C	ENST00000371809.3	+	2	321	c.241T>C	c.(241-243)Tta>Cta	p.L81L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	81										endometrium(2)|large_intestine(3)|lung(8)	13						GGCTGAAGACTTAATTCAGAA	0.463																																						ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(241-243)Tta>Cta		interferon-induced protein with tetratricopeptide repeats 1B							84.0	82.0	83.0					10																	91143311		2203	4300	6503	SO:0001819	synonymous_variant	439996						binding	g.chr10:91143311T>C		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.241T>C	10.37:g.91143311T>C						LIPA_ENST00000371837.1_Intron	p.L81L	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	321	+			81					A7E245	Silent	SNP	ENST00000371809.3	37	c.241T>C	CCDS31242.1																																																																																				0.463	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		58	100	0	0	0	0.870114	0	58	100				
RHOXF1	158800	broad.mit.edu	37	X	119249701	119249701	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:119249701T>C	ENST00000217999.2	-	1	146	c.72A>G	c.(70-72)acA>acG	p.T24T	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	24					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						CCAGCTGAGGTGTGGGGCTTA	0.587																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(70-72)acA>acG		Rhox homeobox family, member 1							44.0	41.0	42.0					X																	119249701		2201	4296	6497	SO:0001819	synonymous_variant	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249701T>C		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.72A>G	X.37:g.119249701T>C						RP4-755D9.1_ENST00000553843.1_RNA	p.T24T	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN			1	146	-			24					O95030|Q3SYE0	Silent	SNP	ENST00000217999.2	37	c.72A>G	CCDS14593.1																																																																																				0.587	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		38	28	0	0	0	0.812448	0	38	28				
CHD6	84181	broad.mit.edu	37	20	40081515	40081515	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:40081515T>C	ENST00000373233.3	-	21	3365	c.3188A>G	c.(3187-3189)gAc>gGc	p.D1063G	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1063					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CATGAGCTCGTCTTCCTCAAA	0.527																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3187-3189)gAc>gGc		chromodomain helicase DNA binding protein 6							149.0	117.0	128.0					20																	40081515		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40081515T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3188A>G	20.37:g.40081515T>C	ENSP00000362330:p.Asp1063Gly					CHD6_ENST00000309279.7_Intron	p.D1063G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			21	3365	-		Myeloproliferative disorder(115;0.00425)	1063					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3188A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615834	0.87359	.	.	ENSG00000124177	ENST00000373233	D	0.82526	-1.62	5.0	5.0	0.66597	.	0.000000	0.56097	D	0.000032	D	0.83138	0.5189	M	0.64997	1.995	0.80722	D	1	B	0.30824	0.296	B	0.36464	0.225	D	0.83898	0.0288	10	0.66056	D	0.02	-18.2391	15.0251	0.71663	0.0:0.0:0.0:1.0	.	1063	Q8TD26	CHD6_HUMAN	G	1063	ENSP00000362330:D1063G	ENSP00000362330:D1063G	D	-	2	0	CHD6	39514929	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.016000	0.59253	0.482000	0.46254	GAC		0.527	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			40	90	0	0	0	0.853193	0	40	90				
COL22A1	169044	broad.mit.edu	37	8	139729066	139729066	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:139729066A>G	ENST00000303045.6	-	28	2847		c.e28+1		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AAACAAACAGACCTTCTCTCC	0.373										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.e28+1		collagen, type XXII, alpha 1							66.0	65.0	65.0					8																	139729066		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139729066A>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2400+1T>C	8.37:g.139729066A>G		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site		NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		28	2847	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37		CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169610	0.57584	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8311	0.46661	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139798248	0.993000	0.37304	0.942000	0.38095	0.863000	0.49368	3.930000	0.56522	2.114000	0.64651	0.533000	0.62120	.		0.373	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	15	28	0	0	0	0.479597	0	15	28				
ANKRD30A	91074	broad.mit.edu	37	10	37442500	37442500	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:37442500A>G	ENST00000602533.1	+	13	1639	c.1540A>G	c.(1540-1542)Agt>Ggt	p.S514G	ANKRD30A_ENST00000361713.1_Splice_Site_p.S514G|ANKRD30A_ENST00000374660.1_Splice_Site_p.S514G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	570					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTTTTAACAGAGTCTCTGTGA	0.284																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.e13-1		ankyrin repeat domain 30A							79.0	83.0	82.0					10																	37442500		1789	4053	5842	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442500A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1540-1A>G	10.37:g.37442500A>G						ANKRD30A_ENST00000361713.1_Splice_Site_p.S514_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.S514_splice	p.S514_splice			Q9BXX3	AN30A_HUMAN			13	1639	+			570					Q5W025	Splice_Site	SNP	ENST00000602533.1	37	c.1539_splice		.	.	.	.	.	.	.	.	.	.	.	8.256	0.810018	0.16537	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05199	3.48;3.48	1.47	1.47	0.22746	.	.	.	.	.	T	0.03783	0.0107	L	0.29908	0.895	0.20196	N	0.999924	P	0.44006	0.824	B	0.34138	0.176	T	0.41466	-0.9507	8	.	.	.	.	5.1116	0.14811	1.0:0.0:0.0:0.0	.	570	Q9BXX3	AN30A_HUMAN	G	514	ENSP00000354432:S514G;ENSP00000363792:S514G	.	S	+	1	0	ANKRD30A	37482506	0.983000	0.35010	0.468000	0.27192	0.014000	0.08584	1.079000	0.30766	0.941000	0.37499	0.315000	0.21342	AGT		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Missense_Mutation	39	361	0	0	0	0.870114	0	39	361				
C11orf24	53838	broad.mit.edu	37	11	68029863	68029863	+	Silent	SNP	C	C	T	rs547273966	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:68029863C>T	ENST00000304271.6	-	4	1002	c.600G>A	c.(598-600)gcG>gcA	p.A200A	C11orf24_ENST00000530166.1_5'Flank|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	200						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TTCTTGGCAACGCGCTGCTCT	0.617													C|||	10	0.00199681	0.0	0.0	5008	,	,		19083	0.0		0.0	False		,,,				2504	0.0102				NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(598-600)gcG>gcA		chromosome 11 open reading frame 24							88.0	80.0	83.0					11																	68029863		2200	4294	6494	SO:0001819	synonymous_variant	53838					integral to membrane		g.chr11:68029863C>T	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.600G>A	11.37:g.68029863C>T						C11orf24_ENST00000533310.1_Intron	p.A200A	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1002	-			200					Q9H2K4	Silent	SNP	ENST00000304271.6	37	c.600G>A	CCDS8180.1																																																																																				0.617	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		48	102	0	0	0	0.870114	0	48	102				
ZNF320	162967	broad.mit.edu	37	19	53367325	53367325	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:53367325C>T	ENST00000597909.1	-	6	547	c.311G>A	c.(310-312)gGc>gAc	p.G104D				A2RRD8	ZN320_HUMAN	zinc finger protein 320	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CACATCACAGCCCTGTATAAA	0.468																																						ENST00000597909.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(310-312)gGc>gAc		zinc finger protein 320																																				SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53367325C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000597909.1:c.311G>A	19.37:g.53367325C>T	ENSP00000472908:p.Gly104Asp						p.G104D			A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	6	547	-			0					Q8NDR6	Missense_Mutation	SNP	ENST00000597909.1	37	c.311G>A																																																																																					0.468	ZNF320-012	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463767.1	NM_207333		29	70	0	0	0	0.729181	0	29	70				
NF1	4763	broad.mit.edu	37	17	29556200	29556200	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:29556200G>A	ENST00000358273.4	+	21	2950	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	NF1_ENST00000356175.3_Missense_Mutation_p.S856N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	856					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGCAGAGAAGCAATTCTGGC	0.507			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2566-2568)aGc>aAc		neurofibromin 1							44.0	42.0	43.0					17																	29556200		2203	4299	6502	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556200G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2567G>A	17.37:g.29556200G>A	ENSP00000351015:p.Ser856Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.S856N	p.S856N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2950	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	856					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2567G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.558404	0.45590	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09911	3.1;3.24;2.93	5.59	4.58	0.56647	Armadillo-type fold (1);	0.083496	0.85682	D	0.000000	T	0.10078	0.0247	L	0.39245	1.2	0.80722	D	1	B;B;B	0.30281	0.009;0.275;0.001	B;B;B	0.24155	0.004;0.051;0.002	T	0.18777	-1.0326	10	0.22706	T	0.39	.	16.5553	0.84483	0.0:0.1301:0.8699:0.0	.	856;856;856	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	N	856;856;522	ENSP00000351015:S856N;ENSP00000348498:S856N;ENSP00000389907:S522N	ENSP00000348498:S856N	S	+	2	0	NF1	26580326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.514000	0.60482	2.634000	0.89283	0.555000	0.69702	AGC		0.507	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		27	66	0	0	0	0.706142	0	27	66				
FAM131A	131408	broad.mit.edu	37	3	184062584	184062584	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:184062584C>A	ENST00000310585.4	+	3	2198	c.834C>A	c.(832-834)ccC>ccA	p.P278P	FAM131A_ENST00000450976.1_Silent_p.P224P|FAM131A_ENST00000418281.1_Silent_p.P186P|FAM131A_ENST00000340957.5_Silent_p.P224P|FAM131A_ENST00000453072.1_Silent_p.P224P|FAM131A_ENST00000383847.2_Silent_p.P309P|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	278						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAACTCGCCCCTCACAGAGT	0.672																																						ENST00000310585.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14						c.(832-834)ccC>ccA		family with sequence similarity 131, member A							40.0	47.0	45.0					3																	184062584		2203	4297	6500	SO:0001819	synonymous_variant	131408					extracellular region		g.chr3:184062584C>A	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.834C>A	3.37:g.184062584C>A						FAM131A_ENST00000450976.1_Silent_p.P224P|FAM131A_ENST00000383847.2_Silent_p.P309P|FAM131A_ENST00000453072.1_Silent_p.P224P|FAM131A_ENST00000340957.5_Silent_p.P224P|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Silent_p.P186P	p.P278P			Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	2198	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		278					D3DNT6|G5E9B1|Q8TA84	Silent	SNP	ENST00000310585.4	37	c.834C>A																																																																																					0.672	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		27	94	1	0	3.33393e-15	0.804634	3.56298e-15	27	94				
RAPH1	65059	broad.mit.edu	37	2	204304389	204304389	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:204304389C>T	ENST00000319170.5	-	14	3823	c.3524G>A	c.(3523-3525)cGa>cAa	p.R1175Q	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1227Q|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1175					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATGGACTTTCGTTGCAGTGT	0.567																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3523-3525)cGa>cAa		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							132.0	121.0	125.0					2																	204304389		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304389C>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3524G>A	2.37:g.204304389C>T	ENSP00000316543:p.Arg1175Gln					RAPH1_ENST00000374493.3_Missense_Mutation_p.R1227Q|RAPH1_ENST00000457812.1_Intron	p.R1175Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3823	-			1175					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3524G>A	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403615	0.83230	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.70164	-0.46;-0.38	5.18	5.18	0.71444	.	0.658638	0.11508	U	0.557017	T	0.76969	0.4062	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77013	-0.2745	10	0.87932	D	0	-7.9208	18.6811	0.91546	0.0:1.0:0.0:0.0	.	1175	Q70E73	RAPH1_HUMAN	Q	1175;1227	ENSP00000316543:R1175Q;ENSP00000363617:R1227Q	ENSP00000316543:R1175Q	R	-	2	0	RAPH1	204012634	1.000000	0.71417	0.987000	0.45799	0.918000	0.54935	7.726000	0.84824	2.405000	0.81733	0.563000	0.77884	CGA		0.567	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		42	77	0	0	0	0.859065	0	42	77				
PRDM7	11105	broad.mit.edu	37	16	90142264	90142264	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:90142264C>G	ENST00000449207.2	-	1	74	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000569206.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	19					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGCTTCCGCTCTGTTCTCTCT	0.592																																						ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(55-57)Gag>Cag		PR domain containing 7							68.0	74.0	72.0					16																	90142264		1934	4136	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90142264C>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.55G>C	16.37:g.90142264C>G	ENSP00000396732:p.Glu19Gln					PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000569206.1_Intron	p.E19Q	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	1	74	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	19					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.55G>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	8.635	0.894585	0.17613	.	.	ENSG00000126856	ENST00000449207;ENST00000414728	T	0.12672	2.66	1.39	0.287	0.15714	Krueppel-associated box (1);	.	.	.	.	T	0.11707	0.0285	L	0.55990	1.75	0.09310	N	0.999999	P	0.43094	0.799	B	0.38562	0.276	T	0.18209	-1.0344	8	.	.	.	.	5.2357	0.15445	0.0:0.6278:0.3722:0.0	.	19	Q9NQW5	PRDM7_HUMAN	Q	19	ENSP00000396732:E19Q	.	E	-	1	0	PRDM7	88669765	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.276000	0.18716	0.123000	0.18342	0.485000	0.47835	GAG		0.592	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			13	14	0	0	0	0.500413	0	13	14				
ADCY5	111	broad.mit.edu	37	3	123044258	123044258	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:123044258T>C	ENST00000462833.1	-	8	3211	c.1999A>G	c.(1999-2001)Atc>Gtc	p.I667V	ADCY5_ENST00000309879.5_Missense_Mutation_p.I317V|ADCY5_ENST00000491190.1_Missense_Mutation_p.I300V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	667					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTGTGCCCGATGGAGTTGGTT	0.587																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1999-2001)Atc>Gtc		adenylate cyclase 5							170.0	173.0	172.0					3																	123044258		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123044258T>C	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1999A>G	3.37:g.123044258T>C	ENSP00000419361:p.Ile667Val					ADCY5_ENST00000309879.5_Missense_Mutation_p.I317V|ADCY5_ENST00000491190.1_Missense_Mutation_p.I300V	p.I667V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	8	3211	-			667					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1999A>G	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356611	0.24598	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.80824	-0.98;-1.42;-1.41;-1.28	5.23	5.23	0.72850	.	0.071286	0.56097	D	0.000024	T	0.54175	0.1842	N	0.01109	-1.01	0.39086	D	0.961001	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.56920	-0.7899	10	0.13853	T	0.58	.	15.2943	0.73891	0.0:0.0:0.0:1.0	.	667;300	O95622;B3KWA8	ADCY5_HUMAN;.	V	667;300;317;226	ENSP00000419361:I667V;ENSP00000418537:I300V;ENSP00000308685:I317V;ENSP00000420082:I226V	ENSP00000308685:I317V	I	-	1	0	ADCY5	124526948	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.659000	0.68010	2.202000	0.70862	0.533000	0.62120	ATC		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		84	182	0	0	0	0.870114	0	84	182				
TTN	7273	broad.mit.edu	37	2	179604723	179604723	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:179604723C>A	ENST00000591111.1	-	46	12510	c.12286G>T	c.(12286-12288)Ggt>Tgt	p.G4096C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.G4175C|TTN_ENST00000460472.2_Missense_Mutation_p.G4050C|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4242C|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G4413C			Q8WZ42	TITIN_HUMAN	titin	0					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)			GAGAAAAGACCTGGCTGCTCG	0.473																																						ENST00000589042.1																			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.(13237-13239)Ggt>Tgt		titin							80.0	81.0	81.0					2																	179604723		1931	4123	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604723C>A	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.12286G>T	2.37:g.179604723C>A	ENSP00000465570:p.Gly4096Cys					TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G4175C|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G4050C|TTN_ENST00000591111.1_Missense_Mutation_p.G4096C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4242C	p.G4413C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13461	-			4096			Ig-like 24.		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.13237G>T		.	.	.	.	.	.	.	.	.	.	C	6.016	0.371308	0.11409	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59224	0.32;0.29;0.28	5.56	4.44	0.53790	.	.	.	.	.	T	0.34571	0.0902	N	0.08118	0	0.09310	N	1	B;B;B	0.24368	0.102;0.102;0.102	B;B;B	0.27262	0.042;0.042;0.078	T	0.26224	-1.0109	9	0.87932	D	0	.	2.6167	0.04906	0.1387:0.0897:0.1629:0.6086	.	4050;4175;4242	D3DPF9;E7EQE6;E7ET18	.;.;.	C	4050;4242;4175;4050	ENSP00000434586:G4050C;ENSP00000340554:G4242C;ENSP00000352154:G4175C	ENSP00000340554:G4242C	G	-	1	0	TTN	179312968	0.001000	0.12720	0.663000	0.29738	0.549000	0.35272	0.463000	0.21972	0.993000	0.38866	0.655000	0.94253	GGT		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	93	1	0	1.38909e-20	0.870114	1.51735e-20	47	93				
TUFT1	7286	broad.mit.edu	37	1	151535065	151535065	+	Missense_Mutation	SNP	G	G	A	rs113585307		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151535065G>A	ENST00000368849.3	+	3	202	c.140G>A	c.(139-141)gGc>gAc	p.G47D	TUFT1_ENST00000538902.1_Missense_Mutation_p.G66D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G22D|TUFT1_ENST00000353024.3_Intron|RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000392712.3_Missense_Mutation_p.G22D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	47					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCCAGGCGGGCAGGAAGACC	0.537																																						ENST00000368849.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(139-141)gGc>gAc		tuftelin 1							80.0	70.0	73.0					1																	151535065		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151535065G>A	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.140G>A	1.37:g.151535065G>A	ENSP00000357842:p.Gly47Asp					TUFT1_ENST00000538902.1_Missense_Mutation_p.G66D|TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000368848.2_Missense_Mutation_p.G22D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G22D	p.G47D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	202	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		47					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.140G>A	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184052	0.57800	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T	0.47528	2.21;0.84;1.15;2.17	5.53	3.56	0.40772	.	0.518671	0.18855	N	0.129281	T	0.47192	0.1432	M	0.63428	1.95	0.29789	N	0.833374	P;D;P	0.62365	0.935;0.991;0.946	P;P;P	0.58970	0.613;0.849;0.691	T	0.42882	-0.9425	10	0.72032	D	0.01	-12.7228	11.6217	0.51121	0.0:0.4373:0.5627:0.0	.	66;22;47	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	D	47;22;22;22;66;22	ENSP00000357842:G47D;ENSP00000376476:G22D;ENSP00000357841:G22D;ENSP00000437997:G66D	ENSP00000357841:G22D	G	+	2	0	TUFT1	149801689	0.997000	0.39634	1.000000	0.80357	0.717000	0.41224	0.769000	0.26604	1.291000	0.44653	0.655000	0.94253	GGC		0.537	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		19	33	0	0	0	0.539581	0	19	33				
DGKH	160851	broad.mit.edu	37	13	42793830	42793830	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:42793830T>C	ENST00000337343.4	+	28	3363	c.3342T>C	c.(3340-3342)ccT>ccC	p.P1114P	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.P869P|DGKH_ENST00000379274.2_Silent_p.P978P|DGKH_ENST00000536612.1_Silent_p.P978P|DGKH_ENST00000261491.5_Silent_p.P1114P|DGKH_ENST00000540693.1_Silent_p.P1114P	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1114					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGGAACCTCCTATGGATTGCA	0.368																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2932-2934)ccT>ccC		diacylglycerol kinase, eta							57.0	52.0	54.0					13																	42793830		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42793830T>C	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3342T>C	13.37:g.42793830T>C						DGKH_ENST00000538674.1_Silent_p.P869P|DGKH_ENST00000540693.1_Silent_p.P1114P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.P1114P|DGKH_ENST00000261491.4_Silent_p.P1114P|DGKH_ENST00000536612.1_Silent_p.P978P	p.P978P			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	28	3363	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	1114					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.2934T>C	CCDS9381.1																																																																																				0.368	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		25	48	0	0	0	0.706142	0	25	48				
ATP4A	495	broad.mit.edu	37	19	36047924	36047924	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36047924A>G	ENST00000262623.3	-	12	1788	c.1760T>C	c.(1759-1761)aTg>aCg	p.M587T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	587					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGGAAAGTTCATGGCCTCTAC	0.587																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1759-1761)aTg>aCg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						81.0	75.0	77.0					19																	36047924		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36047924A>G		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1760T>C	19.37:g.36047924A>G	ENSP00000262623:p.Met587Thr						p.M587T	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1788	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		587					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1760T>C	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171311	0.57584	.	.	ENSG00000105675	ENST00000262623	T	0.78481	-1.18	5.14	5.14	0.70334	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	N	0.04880	-0.145	0.42819	D	0.993985	P	0.42518	0.782	P	0.58210	0.835	T	0.76745	-0.2846	10	0.44086	T	0.13	.	12.9428	0.58354	1.0:0.0:0.0:0.0	.	587	P20648	ATP4A_HUMAN	T	587	ENSP00000262623:M587T	ENSP00000262623:M587T	M	-	2	0	ATP4A	40739764	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	6.109000	0.71528	2.158000	0.67659	0.482000	0.46254	ATG		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		32	56	0	0	0	0.750413	0	32	56				
AEBP1	165	broad.mit.edu	37	7	44149825	44149825	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:44149825A>G	ENST00000223357.3	+	11	1585	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	427	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACTGAGGACGACTACTATGAT	0.627																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1279-1281)gAc>gGc		AE binding protein 1							100.0	82.0	88.0					7																	44149825		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44149825A>G	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1280A>G	7.37:g.44149825A>G	ENSP00000223357:p.Asp427Gly						p.D427G	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			11	1585	+			427			F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1280A>G	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445620	0.84101	.	.	ENSG00000106624	ENST00000223357	D	0.98493	-4.96	5.24	5.24	0.73138	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.054713	0.64402	D	0.000001	D	0.98191	0.9402	L	0.42487	1.325	0.80722	D	1	D	0.64830	0.994	D	0.73380	0.98	D	0.99809	1.1040	10	0.87932	D	0	-54.6437	14.8054	0.69952	1.0:0.0:0.0:0.0	.	427	Q8IUX7	AEBP1_HUMAN	G	427	ENSP00000223357:D427G	ENSP00000223357:D427G	D	+	2	0	AEBP1	44116350	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.057000	0.93889	1.990000	0.58119	0.459000	0.35465	GAC		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		15	31	0	0	0	0.539581	0	15	31				
PHLDB2	90102	broad.mit.edu	37	3	111685552	111685552	+	Splice_Site	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:111685552T>G	ENST00000431670.2	+	14	3579		c.e14+2		PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000495180.1_Splice_Site	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAATCCAGGGTAAGCTTCATA	0.493																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.e14+2		pleckstrin homology-like domain, family B, member 2							61.0	70.0	67.0					3																	111685552		2202	4300	6502	SO:0001630	splice_region_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111685552T>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3168+2T>G	3.37:g.111685552T>G						PHLDB2_ENST00000495180.1_Splice_Site|PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site		NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			14	3579	+								A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Splice_Site	SNP	ENST00000431670.2	37		CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747503	0.69533	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1087	0.72338	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHLDB2	113168242	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	7.615000	0.83006	2.273000	0.75805	0.482000	0.46254	.		0.493	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	Intron	77	37	0	0	0	0.870114	0	77	37				
LEFTY2	7044	broad.mit.edu	37	1	226128690	226128690	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:226128690G>A	ENST00000366820.5	-	1	499	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.L51L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	51					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGATGACCAGCTTCTCCATG	0.701																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(151-153)Ctg>Ttg		left-right determination factor 2							36.0	41.0	39.0					1																	226128690		2203	4299	6502	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226128690G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.151C>T	1.37:g.226128690G>A						LEFTY2_ENST00000420304.2_Silent_p.L51L	p.L51L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			1	499	-	Breast(184;0.197)		51					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.151C>T	CCDS1549.1																																																																																				0.701	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		14	37	0	0	0	0.435327	0	14	37				
BAI3	577	broad.mit.edu	37	6	69949021	69949021	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:69949021T>A	ENST00000370598.1	+	20	3538	c.2717T>A	c.(2716-2718)aTa>aAa	p.I906K	BAI3_ENST00000238918.8_Missense_Mutation_p.I112K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	906					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTAGGTACATACGCTCTGAG	0.363																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2716-2718)aTa>aAa		brain-specific angiogenesis inhibitor 3							176.0	172.0	173.0					6																	69949021		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949021T>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2717T>A	6.37:g.69949021T>A	ENSP00000359630:p.Ile906Lys					BAI3_ENST00000238918.8_Missense_Mutation_p.I112K	p.I906K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			20	3538	+		all_lung(197;0.212)	906					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2717T>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663790	0.88251	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.54279	0.58;0.58	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.72843	0.3511	M	0.89785	3.06	0.80722	D	1	P;D;D	0.89917	0.57;0.991;1.0	B;D;D	0.91635	0.29;0.98;0.999	T	0.80377	-0.1408	10	0.87932	D	0	.	15.1789	0.72938	0.0:0.0:0.0:1.0	.	112;906;906	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	K	906;112	ENSP00000359630:I906K;ENSP00000238918:I112K	ENSP00000238918:I112K	I	+	2	0	BAI3	70005742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.040000	0.89188	1.983000	0.57843	0.533000	0.62120	ATA		0.363	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			117	212	0	0	0	0.870114	0	117	212				
MYOM1	8736	broad.mit.edu	37	18	3085102	3085102	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:3085102T>G	ENST00000356443.4	-	31	4613	c.4280A>C	c.(4279-4281)gAa>gCa	p.E1427A	MYOM1_ENST00000261606.7_Missense_Mutation_p.E1331A|MYOM1_ENST00000400569.3_Missense_Mutation_p.E1427A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1427	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGATAACTTCATAAATCCC	0.438																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(4279-4281)gAa>gCa		myomesin 1							95.0	96.0	96.0					18																	3085102		1883	4109	5992	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3085102T>G	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4280A>C	18.37:g.3085102T>G	ENSP00000348821:p.Glu1427Ala					MYOM1_ENST00000261606.7_Missense_Mutation_p.E1331A|MYOM1_ENST00000400569.3_Missense_Mutation_p.E1427A	p.E1427A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			31	4613	-			1427			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4280A>C	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	31	5.076121	0.94000	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	L	0.57536	1.79	0.58432	D	0.999999	P;P	0.43287	0.619;0.802	P;P	0.59221	0.772;0.854	T	0.82006	-0.0671	10	0.72032	D	0.01	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	1331;1427	P52179-2;P52179	.;MYOM1_HUMAN	A	1427;1427;1331	ENSP00000348821:E1427A;ENSP00000383413:E1427A;ENSP00000261606:E1331A	ENSP00000261606:E1331A	E	-	2	0	MYOM1	3075102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.169000	0.71913	2.304000	0.77564	0.528000	0.53228	GAA		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		9	30	0	0	0	0.361761	0	9	30				
VNN2	8875	broad.mit.edu	37	6	133073887	133073887	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:133073887T>C	ENST00000326499.6	-	4	663	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	VNN2_ENST00000525270.1_Splice_Site_p.Y127C|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	180	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTACAGGTGGTACTACAACAA	0.403																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e4-1		vanin 2							80.0	78.0	79.0					6																	133073887		2203	4300	6503	SO:0001630	splice_region_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073887T>C	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.538-1A>G	6.37:g.133073887T>C						VNN2_ENST00000525270.1_Splice_Site_p.Y127_splice|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron	p.Y180_splice	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	4	663	-			180			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Splice_Site	SNP	ENST00000326499.6	37	c.537_splice	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.767386	0.49574	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.87650	-2.28;-2.28	4.8	4.8	0.61643	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.579435	0.16274	N	0.221654	D	0.90208	0.6939	M	0.81942	2.565	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	D	0.89670	0.3883	10	0.45353	T	0.12	-7.4645	9.9839	0.41830	0.0:0.0805:0.0:0.9195	.	180	O95498	VNN2_HUMAN	C	180;127	ENSP00000322276:Y180C;ENSP00000436822:Y127C	ENSP00000322276:Y180C	Y	-	2	0	VNN2	133115580	0.998000	0.40836	0.865000	0.33974	0.869000	0.49853	4.047000	0.57383	1.923000	0.55706	0.421000	0.28195	TAC		0.403	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		Missense_Mutation	4	210	0	0	0	0.150653	0	4	210				
TNFAIP8L3	388121	broad.mit.edu	37	15	51397273	51397273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:51397273C>T	ENST00000327536.5	-	1	200	c.101G>A	c.(100-102)gGc>gAc	p.G34D	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	34										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCCCTTGTGCCTTGGGTCCC	0.527																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(100-102)gGc>gAc		tumor necrosis factor, alpha-induced protein 8-like 3							272.0	213.0	233.0					15																	51397273		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51397273C>T	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.101G>A	15.37:g.51397273C>T	ENSP00000328016:p.Gly34Asp					RP11-108K3.1_ENST00000559909.1_lincRNA	p.G34D	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	1	200	-			34					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.101G>A	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049701	0.36181	.	.	ENSG00000183578	ENST00000327536	T	0.34859	1.34	3.15	1.12	0.20585	.	.	.	.	.	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.20907	-1.0261	9	0.87932	D	0	.	4.0908	0.09968	0.0:0.6147:0.2458:0.1394	.	34	Q5GJ75	TP8L3_HUMAN	D	34	ENSP00000328016:G34D	ENSP00000328016:G34D	G	-	2	0	TNFAIP8L3	49184565	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.021000	0.13489	0.317000	0.23160	0.544000	0.68410	GGC		0.527	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		80	146	0	0	0	0.870114	0	80	146				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	130	0	0	0	0.248553	0	4	130				
INPP5F	22876	broad.mit.edu	37	10	121571296	121571296	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:121571296A>C	ENST00000361976.2	+	15	1881	c.1715A>C	c.(1714-1716)gAa>gCa	p.E572A		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CCAGTGACAGAAGATCTTTAT	0.323																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1714-1716)gAa>gCa		inositol polyphosphate-5-phosphatase F							84.0	91.0	88.0					10																	121571296		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121571296A>C	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1715A>C	10.37:g.121571296A>C	ENSP00000354519:p.Glu572Ala						p.E572A	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	15	1881	+		Lung NSC(174;0.109)|all_lung(145;0.142)	572					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1715A>C	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039310	0.35989	.	.	ENSG00000198825	ENST00000361976	T	0.41400	1.0	5.58	5.58	0.84498	.	0.273612	0.37809	N	0.001929	T	0.58807	0.2148	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.58595	-0.7609	10	0.45353	T	0.12	-27.2018	15.7389	0.77870	1.0:0.0:0.0:0.0	.	572	Q9Y2H2	SAC2_HUMAN	A	572	ENSP00000354519:E572A	ENSP00000354519:E572A	E	+	2	0	INPP5F	121561286	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	9.270000	0.95690	2.129000	0.65627	0.533000	0.62120	GAA		0.323	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		80	135	0	0	0	0.870114	0	80	135				
RRP1B	23076	broad.mit.edu	37	21	45107597	45107597	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45107597G>A	ENST00000340648.4	+	13	1459	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	448					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CGAGCCAGGTGCAGAGGCCAC	0.662																																						ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1342-1344)Gca>Aca		ribosomal RNA processing 1B							27.0	30.0	29.0					21																	45107597		2201	4299	6500	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107597G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1342G>A	21.37:g.45107597G>A	ENSP00000339145:p.Ala448Thr						p.A448T	NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1459	+			448					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1342G>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	3.574	-0.086948	0.07097	.	.	ENSG00000160208	ENST00000340648	T	0.31769	1.48	3.56	-3.14	0.05250	.	1.727610	0.03276	N	0.185470	T	0.15565	0.0375	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.87932	D	0	-0.1655	2.7599	0.05303	0.2547:0.2992:0.3456:0.1005	.	448	Q14684	RRP1B_HUMAN	T	448	ENSP00000339145:A448T	ENSP00000339145:A448T	A	+	1	0	RRP1B	43932025	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.685000	0.05167	-1.156000	0.02818	-1.786000	0.00637	GCA		0.662	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		15	34	0	0	0	0.539581	0	15	34				
PMFBP1	83449	broad.mit.edu	37	16	72184607	72184607	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:72184607T>C	ENST00000237353.10	-	5	797	c.536A>G	c.(535-537)aAc>aGc	p.N179S	PMFBP1_ENST00000537465.1_Missense_Mutation_p.N179S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.N34S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	179						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTGTAGAGGTTTAAGCTCCT	0.527																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(535-537)aAc>aGc		polyamine modulated factor 1 binding protein 1							128.0	118.0	122.0					16																	72184607		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184607T>C	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.536A>G	16.37:g.72184607T>C	ENSP00000237353:p.Asn179Ser					PMFBP1_ENST00000237353.10_Missense_Mutation_p.N179S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.N34S	p.N179S			Q8TBY8	PMFBP_HUMAN			5	694	-		Ovarian(137;0.179)	179					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.536A>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345345	0.24426	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.78481	-1.18;-1.18;2.61	6.17	-1.79	0.07932	.	0.451574	0.21151	N	0.079323	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999985	B;B;B	0.26081	0.141;0.084;0.084	B;B;B	0.26202	0.067;0.015;0.022	T	0.46498	-0.9187	10	0.02654	T	1	-13.533	2.5673	0.04786	0.1107:0.2662:0.1138:0.5093	.	179;179;179	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	S	179;179;34	ENSP00000443817:N179S;ENSP00000237353:N179S;ENSP00000347854:N34S	ENSP00000237353:N179S	N	-	2	0	PMFBP1	70742108	0.997000	0.39634	0.885000	0.34714	0.703000	0.40648	0.293000	0.19029	-0.560000	0.06102	-1.937000	0.00501	AAC		0.527	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		7	221	0	0	0	0.248553	0	7	221				
ITM2C	81618	broad.mit.edu	37	2	231741659	231741659	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:231741659T>G	ENST00000326427.6	+	4	664	c.538T>G	c.(538-540)Tgg>Ggg	p.W180G	ITM2C_ENST00000335005.6_Missense_Mutation_p.W133G|ITM2C_ENST00000409704.2_Missense_Mutation_p.W118G|ITM2C_ENST00000326407.6_Intron|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	180	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCGCAACTTCTGGGAGCTCCT	0.582																																						ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(538-540)Tgg>Ggg		integral membrane protein 2C							118.0	115.0	116.0					2																	231741659		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231741659T>G	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.538T>G	2.37:g.231741659T>G	ENSP00000322730:p.Trp180Gly					ITM2C_ENST00000409704.2_Missense_Mutation_p.W118G|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Missense_Mutation_p.W133G|ITM2C_ENST00000326407.6_Intron	p.W180G	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	4	664	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	180			BRICHOS.		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.538T>G	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431430	0.62844	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.78481	1.11;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.8	4.45	0.53987	BRICHOS (2);	0.065187	0.64402	D	0.000002	T	0.80037	0.4550	L	0.41236	1.265	0.50039	D	0.999844	P;D	0.76494	0.893;0.999	P;D	0.68483	0.496;0.958	T	0.79130	-0.1930	10	0.46703	T	0.11	-12.0443	8.3194	0.32119	0.0:0.0996:0.0:0.9004	.	133;180	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	G	180;118;180;133;118;118;118	ENSP00000390655:W180G;ENSP00000440295:W118G;ENSP00000322730:W180G;ENSP00000335121:W133G;ENSP00000444899:W118G;ENSP00000387242:W118G;ENSP00000403257:W118G	ENSP00000322730:W180G	W	+	1	0	ITM2C	231449903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.174000	0.50847	2.209000	0.71365	0.533000	0.62120	TGG		0.582	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		43	120	0	0	0	0.870114	0	43	120				
TIAM1	7074	broad.mit.edu	37	21	32513436	32513436	+	Splice_Site	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:32513436C>T	ENST00000286827.3	-	23	4245	c.3774G>A	c.(3772-3774)gaG>gaA	p.E1258E	TIAM1_ENST00000541036.1_Splice_Site_p.E1198E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1258					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1258E(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGACCCTCACCTCTTTTTTCT	0.398																																						ENST00000286827.3																			2	Substitution - coding silent(2)	p.E1258E(2)	prostate(2)	autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.e23+1		T-cell lymphoma invasion and metastasis 1							71.0	67.0	68.0					21																	32513436		2203	4300	6503	SO:0001630	splice_region_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513436C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3774+1G>A	21.37:g.32513436C>T						TIAM1_ENST00000541036.1_Splice_Site_p.E1198_splice	p.E1258_splice	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			23	4245	-			1258					B7ZLR6|F5GZ53|Q17RT7	Splice_Site	SNP	ENST00000286827.3	37	c.3774_splice	CCDS13609.1																																																																																				0.398	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Silent	26	71	0	0	0	0.717897	0	26	71				
TBC1D17	79735	broad.mit.edu	37	19	50391043	50391043	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50391043G>A	ENST00000221543.5	+	15	1910	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	MIR4750_ENST00000584564.1_RNA|TBC1D17_ENST00000535102.2_Silent_p.E504E	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	537					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGGACATGGAGAGGGACACCC	0.697																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1609-1611)gaG>gaA		TBC1 domain family, member 17							35.0	29.0	31.0					19																	50391043		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50391043G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1611G>A	19.37:g.50391043G>A						TBC1D17_ENST00000535102.2_Silent_p.E504E	p.E537E	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	15	1910	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	537					B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1611G>A	CCDS12785.1																																																																																				0.697	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		11	14	0	0	0	0.479597	0	11	14				
EXOC6	54536	broad.mit.edu	37	10	94733826	94733826	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:94733826C>T	ENST00000260762.6	+	18	1804	c.1790C>T	c.(1789-1791)gCa>gTa	p.A597V	EXOC6_ENST00000371547.4_Missense_Mutation_p.A613V|EXOC6_ENST00000443748.2_Missense_Mutation_p.A494V|EXOC6_ENST00000371552.4_Missense_Mutation_p.A592V	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	597					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CGACATGCAGCAGAAGGAGAA	0.338																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1774-1776)gCa>gTa		exocyst complex component 6							65.0	66.0	66.0					10																	94733826		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94733826C>T	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1790C>T	10.37:g.94733826C>T	ENSP00000260762:p.Ala597Val					EXOC6_ENST00000260762.6_Missense_Mutation_p.A597V|EXOC6_ENST00000371547.4_Missense_Mutation_p.A613V|EXOC6_ENST00000443748.2_Missense_Mutation_p.A494V	p.A592V	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			18	1804	+		Colorectal(252;0.123)	597					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.1775C>T	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193240	0.78902	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.63169	1.94	0.80722	D	1	D;D;P;D;P;P	0.71674	0.998;0.967;0.725;0.996;0.688;0.688	P;P;B;D;P;B	0.67900	0.899;0.897;0.393;0.954;0.491;0.393	T	0.66396	-0.5934	10	0.33940	T	0.23	-3.6431	19.1989	0.93701	0.0:1.0:0.0:0.0	.	613;494;589;550;597;592	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	V	613;592;494;597	ENSP00000360602:A613V;ENSP00000360607:A592V;ENSP00000396206:A494V;ENSP00000260762:A597V	ENSP00000260762:A597V	A	+	2	0	EXOC6	94723806	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	7.767000	0.85331	2.504000	0.84457	0.650000	0.86243	GCA		0.338	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		33	72	0	0	0	0.779181	0	33	72				
FGA	2243	broad.mit.edu	37	4	155508013	155508013	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:155508013G>A	ENST00000302053.3	-	5	646	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	FGA_ENST00000403106.3_Missense_Mutation_p.R190C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	190					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTACTTCACGAGCTAAAGCC	0.418																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(568-570)Cgt>Tgt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						109.0	110.0	110.0					4																	155508013		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508013G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.568C>T	4.37:g.155508013G>A	ENSP00000306361:p.Arg190Cys					FGA_ENST00000403106.3_Missense_Mutation_p.R190C	p.R190C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	646	-	all_hematologic(180;0.215)	Renal(120;0.0458)	190					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.568C>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161843	0.38217	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.82711	-1.64;-1.64	5.87	4.1	0.47936	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.583836	0.20169	N	0.097776	D	0.84502	0.5486	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.66979	0.846;0.948	T	0.74441	-0.3664	10	0.51188	T	0.08	.	3.2437	0.06789	0.2126:0.0:0.5604:0.2269	.	190;190	P02671-2;P02671	.;FIBA_HUMAN	C	190	ENSP00000306361:R190C;ENSP00000385981:R190C	ENSP00000306361:R190C	R	-	1	0	FGA	155727463	0.652000	0.27349	0.003000	0.11579	0.192000	0.23643	5.413000	0.66399	1.584000	0.49913	0.655000	0.94253	CGT		0.418	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		6	110	0	0	0	0.278610	0	6	110				
RABEP1	9135	broad.mit.edu	37	17	5280457	5280457	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:5280457T>C	ENST00000546142.2	+	14	2259	c.2072T>C	c.(2071-2073)gTg>gCg	p.V691A	RABEP1_ENST00000262477.6_Missense_Mutation_p.V691A|RABEP1_ENST00000537505.1_Missense_Mutation_p.V648A|RABEP1_ENST00000408982.2_Missense_Mutation_p.V691A|RABEP1_ENST00000341923.6_Missense_Mutation_p.V691A|NUP88_ENST00000573169.1_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	691					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ATCATTAATGTGCGGACAGCA	0.398																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2071-2073)gTg>gCg		rabaptin, RAB GTPase binding effector protein 1							137.0	132.0	133.0					17																	5280457		1892	4110	6002	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5280457T>C	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2072T>C	17.37:g.5280457T>C	ENSP00000437701:p.Val691Ala					NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.V691A|RABEP1_ENST00000537505.1_Missense_Mutation_p.V648A|RABEP1_ENST00000408982.2_Missense_Mutation_p.V691A|RABEP1_ENST00000341923.6_Missense_Mutation_p.V691A	p.V691A	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			14	2296	+			691					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.2072T>C	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	T	7.991	0.753342	0.15778	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.88	4.88	0.63580	Rabaptin, GTPase-Rab5 binding (1);	0.204938	0.41001	D	0.000964	T	0.22513	0.0543	N	0.11789	0.175	0.80722	D	1	B;B;B;B;B	0.12013	0.004;0.005;0.001;0.003;0.002	B;B;B;B;B	0.10450	0.003;0.005;0.003;0.004;0.004	T	0.08889	-1.0700	10	0.02654	T	1	-17.9722	14.1444	0.65341	0.0:0.0:0.0:1.0	.	648;648;684;691;691	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	A	691;691;684;691;691;648	ENSP00000262477:V691A;ENSP00000386150:V691A;ENSP00000437701:V691A;ENSP00000339569:V691A;ENSP00000445408:V648A	ENSP00000262477:V691A	V	+	2	0	RABEP1	5221181	1.000000	0.71417	0.997000	0.53966	0.594000	0.36715	2.464000	0.45067	2.183000	0.69458	0.533000	0.62120	GTG		0.398	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		112	232	0	0	0	0.870114	0	112	232				
SLC5A10	125206	broad.mit.edu	37	17	18916767	18916767	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:18916767G>A	ENST00000395645.3	+	10	1045	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	SLC5A10_ENST00000395643.2_Missense_Mutation_p.G316R|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G359R|SLC5A10_ENST00000395642.1_Missense_Mutation_p.G276R|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Missense_Mutation_p.G276R	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	343					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCGGGCCTGCGGGGCCGAGGT	0.642																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(826-828)Ggg>Agg		solute carrier family 5 (sodium/sugar cotransporter), member 10							58.0	52.0	54.0					17																	18916767		2203	4299	6502	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18916767G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1027G>A	17.37:g.18916767G>A	ENSP00000379007:p.Gly343Arg					SLC5A10_ENST00000395645.3_Missense_Mutation_p.G343R|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G359R|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G316R|SLC5A10_ENST00000395642.1_Missense_Mutation_p.G276R	p.G276R			A0PJK1	SC5AA_HUMAN			9	1397	+			343					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.826G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175579	0.78564	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.993;0.972;0.993	D	0.97211	0.9871	10	0.72032	D	0.01	.	16.1683	0.81786	0.0:0.0:1.0:0.0	.	316;343;359;276	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	R	276;359;276;343;316	ENSP00000324346:G276R;ENSP00000379008:G359R;ENSP00000379004:G276R;ENSP00000379007:G343R;ENSP00000379005:G316R	ENSP00000324346:G276R	G	+	1	0	SLC5A10	18857492	1.000000	0.71417	0.988000	0.46212	0.563000	0.35712	9.566000	0.98157	1.978000	0.57642	0.313000	0.20887	GGG		0.642	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		20	44	0	0	0	0.717897	0	20	44				
LPIN3	64900	broad.mit.edu	37	20	39978750	39978750	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:39978750C>T	ENST00000373257.3	+	7	906	c.815C>T	c.(814-816)gCa>gTa	p.A272V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	272					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGAGCTGGGGCAACCTCTCCT	0.627																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(814-816)gCa>gTa		lipin 3							29.0	22.0	25.0					20																	39978750		2201	4299	6500	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978750C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.815C>T	20.37:g.39978750C>T	ENSP00000362354:p.Ala272Val						p.A272V	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			7	906	+		Myeloproliferative disorder(115;0.000739)	272					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.815C>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792851	0.31685	.	.	ENSG00000132793	ENST00000373257	T	0.80304	-1.36	4.84	1.78	0.24846	.	2.106110	0.01729	N	0.028752	T	0.73032	0.3535	L	0.38175	1.15	0.09310	N	1	B;B	0.30851	0.012;0.297	B;B	0.31390	0.037;0.129	T	0.55952	-0.8059	9	.	.	.	2.3423	5.6155	0.17428	0.1573:0.6717:0.0:0.171	.	273;272	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	V	272	ENSP00000362354:A272V	.	A	+	2	0	LPIN3	39412164	0.001000	0.12720	0.000000	0.03702	0.119000	0.20118	0.795000	0.26972	0.288000	0.22398	0.591000	0.81541	GCA		0.627	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		5	22	0	0	0	0.248553	0	5	22				
DCST2	127579	broad.mit.edu	37	1	154997047	154997047	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154997047A>G	ENST00000368424.3	-	11	1701	c.1643T>C	c.(1642-1644)cTg>cCg	p.L548P	DCST2_ENST00000295536.5_Missense_Mutation_p.L548P	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	548						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCGGCGGCTCAGAAGTACATT	0.612																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1642-1644)cTg>cCg		DC-STAMP domain containing 2							83.0	70.0	75.0					1																	154997047		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154997047A>G	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1643T>C	1.37:g.154997047A>G	ENSP00000357409:p.Leu548Pro					DCST2_ENST00000295536.5_Missense_Mutation_p.L548P	p.L548P	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	1701	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		548					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1643T>C	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305156	0.60305	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.38077	1.16;1.18	4.14	4.14	0.48551	.	0.227352	0.28225	N	0.016131	T	0.37652	0.1011	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.27673	-1.0067	10	0.59425	D	0.04	-15.4487	10.772	0.46327	1.0:0.0:0.0:0.0	.	548	Q5T1A1	DCST2_HUMAN	P	548	ENSP00000357409:L548P;ENSP00000295536:L548P	ENSP00000295536:L548P	L	-	2	0	DCST2	153263671	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.860000	0.55995	1.742000	0.51746	0.379000	0.24179	CTG		0.612	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		12	27	0	0	0	0.557998	0	12	27				
CD4	920	broad.mit.edu	37	12	6924067	6924067	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6924067T>A	ENST00000011653.4	+	5	774	c.516T>A	c.(514-516)tcT>tcA	p.S172S	CD4_ENST00000541982.1_Silent_p.S117S|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	172	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TCTCCGTGTCTCAGCTGGAGC	0.542																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(514-516)tcT>tcA		CD4 molecule							88.0	77.0	80.0					12																	6924067		2203	4300	6503	SO:0001819	synonymous_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924067T>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.516T>A	12.37:g.6924067T>A						CD4_ENST00000541982.1_Silent_p.S117S|CD4_ENST00000538827.1_3'UTR	p.S172S	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	774	+		Myeloproliferative disorder(1001;0.0122)	172			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	c.516T>A	CCDS8562.1																																																																																				0.542	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		19	45	0	0	0	0.539581	0	19	45				
LNPEP	4012	broad.mit.edu	37	5	96350727	96350727	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:96350727C>A	ENST00000231368.5	+	13	2996	c.2304C>A	c.(2302-2304)gcC>gcA	p.A768A	LNPEP_ENST00000395770.3_Silent_p.A754A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	768					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCACCGAAGCCCTGTTTCAGA	0.443																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2302-2304)gcC>gcA		leucyl/cystinyl aminopeptidase							123.0	115.0	118.0					5																	96350727		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96350727C>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2304C>A	5.37:g.96350727C>A						LNPEP_ENST00000395770.3_Silent_p.A754A	p.A768A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	13	2996	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	768					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.2304C>A	CCDS4087.1																																																																																				0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		71	119	1	0	1.35869e-18	0.870114	1.47454e-18	71	119				
ANXA6	309	broad.mit.edu	37	5	150519732	150519732	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:150519732T>C	ENST00000354546.5	-	3	318	c.91A>G	c.(91-93)Act>Gct	p.T31A	ANXA6_ENST00000521512.1_Missense_Mutation_p.T31A|ANXA6_ENST00000377751.5_Missense_Mutation_p.T31A|ANXA6_ENST00000523714.1_5'UTR|ANXA6_ENST00000356496.5_Missense_Mutation_p.T31A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	31					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGCAGTGTACAGAGCC	0.577																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(91-93)Act>Gct		annexin A6							49.0	54.0	52.0					5																	150519732		1908	4111	6019	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150519732T>C	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.91A>G	5.37:g.150519732T>C	ENSP00000346550:p.Thr31Ala					ANXA6_ENST00000377751.5_Missense_Mutation_p.T31A|ANXA6_ENST00000523714.1_5'UTR|ANXA6_ENST00000356496.5_Missense_Mutation_p.T31A|ANXA6_ENST00000521512.1_Missense_Mutation_p.T31A	p.T31A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	318	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	31					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.91A>G	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714340	0.48622	.	.	ENSG00000197043	ENST00000354546;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000517486;ENST00000523164	T;T;T;T;T;T	0.10860	2.83;4.25;2.83;3.61;3.61;3.61	5.19	3.99	0.46301	.	0.328094	0.34828	N	0.003660	T	0.05364	0.0142	N	0.03983	-0.305	0.32612	N	0.524484	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.15484	0.002;0.013;0.013	T	0.06041	-1.0849	10	0.87932	D	0	.	10.2594	0.43416	0.1486:0.0:0.0:0.8514	.	31;31;31	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	A	31	ENSP00000346550:T31A;ENSP00000366980:T31A;ENSP00000348889:T31A;ENSP00000430420:T31A;ENSP00000428916:T31A;ENSP00000431078:T31A	ENSP00000346550:T31A	T	-	1	0	ANXA6	150499925	1.000000	0.71417	0.680000	0.29994	0.844000	0.47949	5.207000	0.65197	0.768000	0.33290	0.459000	0.35465	ACT		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		7	25	0	0	0	0.335167	0	7	25				
DMWD	1762	broad.mit.edu	37	19	46290079	46290079	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:46290079C>T	ENST00000270223.6	-	3	720	c.675G>A	c.(673-675)tcG>tcA	p.S225S	DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.S225S|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	225										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACAGGCTCTCCGACTCAGGCA	0.612																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(673-675)tcG>tcA		dystrophia myotonica, WD repeat containing							41.0	34.0	37.0					19																	46290079		2203	4300	6503	SO:0001819	synonymous_variant	1762				meiosis			g.chr19:46290079C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.675G>A	19.37:g.46290079C>T						DMWD_ENST00000377735.3_Silent_p.S225S	p.S225S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	720	-		Ovarian(192;0.0308)|all_neural(266;0.112)	225						Silent	SNP	ENST00000270223.6	37	c.675G>A	CCDS33054.1																																																																																				0.612	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		7	11	0	0	0	0.335167	0	7	11				
OR10G8	219869	broad.mit.edu	37	11	123900583	123900583	+	Missense_Mutation	SNP	T	T	C	rs537178639	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123900583T>C	ENST00000431524.1	+	1	287	c.254T>C	c.(253-255)tTc>tCc	p.F85S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACTTTGGTGTTCCCAAGTGGC	0.522																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(253-255)tTc>tCc		olfactory receptor, family 10, subfamily G, member 8							218.0	187.0	197.0					11																	123900583		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900583T>C	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.254T>C	11.37:g.123900583T>C	ENSP00000389072:p.Phe85Ser						p.F85S	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	287	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	85					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.254T>C	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.078738	0.00375	.	.	ENSG00000234560	ENST00000431524	T	0.03035	4.07	2.95	0.744	0.18353	GPCR, rhodopsin-like superfamily (1);	0.376195	0.19808	N	0.105593	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45454	-0.9260	10	0.21540	T	0.41	.	0.5908	0.00728	0.1737:0.301:0.1703:0.355	.	85	Q8NGN5	O10G8_HUMAN	S	85	ENSP00000389072:F85S	ENSP00000389072:F85S	F	+	2	0	OR10G8	123405793	0.003000	0.15002	0.009000	0.14445	0.020000	0.10135	1.515000	0.35845	0.114000	0.18032	-0.197000	0.12766	TTC		0.522	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		9	97	0	0	0	0.859065	0	9	97				
CSGALNACT1	55790	broad.mit.edu	37	8	19363023	19363023	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:19363023A>G	ENST00000454498.2	-	4	1336	c.323T>C	c.(322-324)cTg>cCg	p.L108P	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.L108P	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	108					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCTCCTGTCCAGACCCAGGCC	0.627																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(322-324)cTg>cCg		chondroitin sulfate N-acetylgalactosaminyltransferase 1							42.0	43.0	42.0					8																	19363023		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19363023A>G	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.323T>C	8.37:g.19363023A>G	ENSP00000411816:p.Leu108Pro					CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.L108P	p.L108P	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1336	-			108					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.323T>C	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.208060	0.01568	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	3.6	-4.04	0.04010	.	1.641090	0.03242	N	0.180510	T	0.24774	0.0601	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.20974	-1.0259	10	0.23302	T	0.38	3.0588	8.786	0.34821	0.7038:0.1212:0.175:0.0	.	108	Q8TDX6	CGAT1_HUMAN	P	108	ENSP00000411816:L108P;ENSP00000330805:L108P;ENSP00000310891:L108P;ENSP00000429809:L108P;ENSP00000442155:L108P	ENSP00000310891:L108P	L	-	2	0	CSGALNACT1	19407303	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.553000	0.23391	-1.387000	0.02095	-1.481000	0.00988	CTG		0.627	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		32	49	0	0	0	0.779181	0	32	49				
EPHB6	2051	broad.mit.edu	37	7	142561951	142561951	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:142561951C>T	ENST00000392957.2	+	7	1180	c.393C>T	c.(391-393)taC>taT	p.Y131Y	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y131Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	131	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCACCCTTTACTACCGTCAGG	0.632																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(391-393)taC>taT		EPH receptor B6							57.0	60.0	59.0					7																	142561951		2203	4300	6503	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561951C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.393C>T	7.37:g.142561951C>T						EPHB6_ENST00000442129.1_Silent_p.Y131Y|EPHB6_ENST00000411471.2_Intron	p.Y131Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1180	+	Melanoma(164;0.059)		131					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.393C>T	CCDS5873.2																																																																																				0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			31	45	0	0	0	0.812448	0	31	45				
KIF1B	23095	broad.mit.edu	37	1	10384065	10384065	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:10384065G>A	ENST00000377086.1	+	25	2684	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E782K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E828K			O60333	KIF1B_HUMAN	kinesin family member 1B	828					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTAGCAGTAGAAGTCCAGGA	0.423																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2482-2484)Gaa>Aaa		kinesin family member 1B							139.0	145.0	142.0					1																	10384065		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10384065G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2482G>A	1.37:g.10384065G>A	ENSP00000366290:p.Glu828Lys					KIF1B_ENST00000263934.6_Missense_Mutation_p.E782K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E828K	p.E828K			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	25	2684	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	828					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2482G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.306362	0.95629	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73152	-0.72;-0.72;-0.72	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	L	0.54908	1.71	0.80722	D	1	P;D;D;D;D;D	0.69078	0.942;0.97;0.994;0.974;0.997;0.974	P;P;P;P;P;D	0.70487	0.643;0.77;0.725;0.776;0.849;0.969	T	0.75377	-0.3339	10	0.22706	T	0.39	.	19.5085	0.95130	0.0:0.0:1.0:0.0	.	814;788;828;802;828;782	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	828;782;828;828	ENSP00000263934:E782K;ENSP00000366290:E828K;ENSP00000366284:E828K	ENSP00000263934:E782K	E	+	1	0	KIF1B	10306652	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.801000	0.99128	2.692000	0.91855	0.650000	0.86243	GAA		0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	111	0	0	0	0.248553	0	6	111				
ZNF98	148198	broad.mit.edu	37	19	22574543	22574543	+	Silent	SNP	A	A	G	rs74169607		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:22574543A>G	ENST00000357774.5	-	4	1615	c.1494T>C	c.(1492-1494)gcT>gcC	p.A498A		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A498A(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACTGGTTAAAAGCTTTGCCAC	0.398																																						ENST00000357774.5																			2	Substitution - coding silent(2)	p.A498A(2)	large_intestine(2)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1492-1494)gcT>gcC		zinc finger protein 98							73.0	65.0	68.0					19																	22574543		2187	4283	6470	SO:0001819	synonymous_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574543A>G		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1494T>C	19.37:g.22574543A>G							p.A498A	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	1615	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	498						Silent	SNP	ENST00000357774.5	37	c.1494T>C	CCDS46031.1																																																																																				0.398	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		6	175	0	0	0	0.248553	0	6	175				
IFNA7	3444	broad.mit.edu	37	9	21201942	21201942	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:21201942G>T	ENST00000239347.3	-	1	262	c.223C>A	c.(223-225)Caa>Aaa	p.Q75K		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	75					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGATGGCTTGAGTCTTCTGG	0.483																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(223-225)Caa>Aaa		interferon, alpha 7							126.0	120.0	122.0					9																	21201942		2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201942G>T		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.223C>A	9.37:g.21201942G>T	ENSP00000239347:p.Gln75Lys						p.Q75K	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	262	-			75					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.223C>A	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300601	0.40694	.	.	ENSG00000214042	ENST00000239347	T	0.06218	3.33	3.56	0.129	0.14739	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.496290	0.21683	N	0.070695	T	0.20861	0.0502	M	0.89414	3.03	0.09310	N	1	D	0.64830	0.994	D	0.71414	0.973	T	0.05649	-1.0872	10	0.72032	D	0.01	.	3.0494	0.06164	0.1078:0.3096:0.4256:0.157	.	75	P01567	IFNA7_HUMAN	K	75	ENSP00000239347:Q75K	ENSP00000239347:Q75K	Q	-	1	0	IFNA7	21191942	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	0.090000	0.15025	0.140000	0.18849	0.586000	0.80456	CAA		0.483	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		89	69	1	0	2.37326e-55	0.870114	2.66873e-55	89	69				
ADD2	119	broad.mit.edu	37	2	70910816	70910816	+	Silent	SNP	G	G	A	rs369508265		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:70910816G>A	ENST00000264436.4	-	10	1476	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	ADD2_ENST00000413157.2_Silent_p.S344S|ADD2_ENST00000407644.2_Silent_p.S344S|ADD2_ENST00000430656.1_Silent_p.S360S|ADD2_ENST00000355733.3_Silent_p.S344S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	344					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCCACTGCACGGAGCCCACCT	0.622																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1030-1032)tcC>tcT		adducin 2 (beta)		G	,,,,	0,4406		0,0,2203	40.0	39.0	39.0		1032,1080,1032,1032,1032	-9.7	0.7	2		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	344/727,360/576,344/727,344/560,344/644	70910816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70910816G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1032C>T	2.37:g.70910816G>A						ADD2_ENST00000430656.1_Silent_p.S360S|ADD2_ENST00000413157.2_Silent_p.S344S|ADD2_ENST00000355733.3_Silent_p.S344S|ADD2_ENST00000407644.2_Silent_p.S344S	p.S344S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			10	1476	-			344					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.1032C>T	CCDS1906.1																																																																																				0.622	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		12	41	0	0	0	0.411799	0	12	41				
TUBB	203068	broad.mit.edu	37	6	30691481	30691481	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:30691481T>A	ENST00000327892.8	+	4	948	c.642T>A	c.(640-642)acT>acA	p.T214T	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_Silent_p.T196T|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.T142T|TUBB_ENST00000396384.1_Silent_p.T142T	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	214					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCTTCCGCACTCTGAAGCTGA	0.537																																						ENST00000396389.1																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(586-588)acT>acA		tubulin, beta class I	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						101.0	94.0	96.0					6																	30691481		2203	4300	6503	SO:0001819	synonymous_variant	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691481T>A	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.642T>A	6.37:g.30691481T>A						TUBB_ENST00000396384.1_Silent_p.T142T|TUBB_ENST00000330914.3_Silent_p.T142T|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000327892.8_Silent_p.T214T	p.T196T			P07437	TBB5_HUMAN			4	1181	+			214					P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	c.588T>A	CCDS4687.1																																																																																				0.537	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		41	91	0	0	0	0.827153	0	41	91				
ADAMTS18	170692	broad.mit.edu	37	16	77331297	77331297	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:77331297T>C	ENST00000282849.5	-	18	3108	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	897					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAATGGCCTTTACATTTAT	0.373																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2689-2691)aAg>aGg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							136.0	135.0	135.0					16																	77331297		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331297T>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2690A>G	16.37:g.77331297T>C	ENSP00000282849:p.Lys897Arg						p.K897R	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			18	3108	-			897					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2690A>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436647	0.43224	.	.	ENSG00000140873	ENST00000282849	T	0.60548	0.18	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.35644	1.08	0.52099	D	0.999944	B;B	0.24576	0.106;0.023	B;B	0.26310	0.039;0.068	T	0.41251	-0.9519	10	0.15066	T	0.55	.	15.615	0.76760	0.0:0.0:0.0:1.0	.	897;897	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	R	897	ENSP00000282849:K897R	ENSP00000282849:K897R	K	-	2	0	ADAMTS18	75888798	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.237000	0.78164	2.270000	0.75569	0.533000	0.62120	AAG		0.373	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			79	151	0	0	0	0.870114	0	79	151				
ZBED4	9889	broad.mit.edu	37	22	50280639	50280639	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:50280639C>A	ENST00000216268.5	+	2	3806	c.3329C>A	c.(3328-3330)tCc>tAc	p.S1110Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1110						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAGAAGGCGTCCTGGCCGGGG	0.582																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3328-3330)tCc>tAc		zinc finger, BED-type containing 4							59.0	52.0	54.0					22																	50280639		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280639C>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3329C>A	22.37:g.50280639C>A	ENSP00000216268:p.Ser1110Tyr						p.S1110Y	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3806	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	1110					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.3329C>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860284	0.32884	.	.	ENSG00000100426	ENST00000216268	T	0.24723	1.84	5.17	4.14	0.48551	HAT dimerisation (1);Ribonuclease H-like (1);	0.691374	0.14161	N	0.337417	T	0.41143	0.1146	M	0.63843	1.955	0.37778	D	0.926924	P	0.52577	0.954	P	0.52109	0.69	T	0.49597	-0.8923	10	0.59425	D	0.04	-6.0973	15.8837	0.79222	0.0:0.8644:0.1356:0.0	.	1110	O75132	ZBED4_HUMAN	Y	1110	ENSP00000216268:S1110Y	ENSP00000216268:S1110Y	S	+	2	0	ZBED4	48666643	0.940000	0.31905	0.757000	0.31301	0.274000	0.26718	2.145000	0.42207	1.407000	0.46875	0.650000	0.86243	TCC		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		16	14	1	0	4.7546e-09	0.500413	4.9861e-09	16	14				
ATAD2B	54454	broad.mit.edu	37	2	23977158	23977158	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:23977158A>G	ENST00000238789.5	-	27	4569	c.4226T>C	c.(4225-4227)gTg>gCg	p.V1409A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1409						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTTATCCACCAACAAATC	0.313																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(4225-4227)gTg>gCg		ATPase family, AAA domain containing 2B							35.0	32.0	33.0					2																	23977158		1818	4068	5886	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23977158A>G	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4226T>C	2.37:g.23977158A>G	ENSP00000238789:p.Val1409Ala					ATAD2B_ENST00000474583.1_5'UTR	p.V1409A	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			27	4569	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1409					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.4226T>C	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.3|25.3	4.628103|4.628103	0.87560|0.87560	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.93906|.	-3.31|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.53938|.	D|.	0.000059|.	T|T	0.74268|0.74268	0.3694|0.3694	M|M	0.73217|0.73217	2.22|2.22	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.61697|.	0.984;0.99|.	D;D|.	0.73380|.	0.956;0.98|.	T|T	0.74578|0.74578	-0.3619|-0.3619	10|5	0.45353|.	T|.	0.12|.	.|.	15.8632|15.8632	0.79040|0.79040	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1409;1404|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	A|R	1409;577|685	ENSP00000238789:V1409A|.	ENSP00000238789:V1409A|.	V|W	-|-	2|1	0|0	ATAD2B|ATAD2B	23830662|23830662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.369000|7.369000	0.79578|0.79578	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.313	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		5	13	0	0	0	0.217242	0	5	13				
MERTK	10461	broad.mit.edu	37	2	112751965	112751965	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:112751965A>G	ENST00000295408.4	+	9	1691	c.1434A>G	c.(1432-1434)atA>atG	p.I478M	MERTK_ENST00000421804.2_Missense_Mutation_p.I478M|MERTK_ENST00000409780.1_Missense_Mutation_p.I302M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	478	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTGAAAATATTTATCCCTG	0.527																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1432-1434)atA>atG		c-mer proto-oncogene tyrosine kinase							142.0	137.0	139.0					2																	112751965		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112751965A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1434A>G	2.37:g.112751965A>G	ENSP00000295408:p.Ile478Met					MERTK_ENST00000421804.2_Missense_Mutation_p.I478M|MERTK_ENST00000409780.1_Missense_Mutation_p.I302M	p.I478M			Q12866	MERTK_HUMAN			9	1691	+			478			Fibronectin type-III 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1434A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381619	0.24944	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.55413	0.52;0.52;0.52	5.1	-10.2	0.00374	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.899028	0.09012	N	0.861384	T	0.41190	0.1148	L	0.51914	1.62	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.34004	-0.9846	10	0.48119	T	0.1	-4.005	14.2739	0.66167	0.1448:0.7116:0.1435:0.0	.	478	Q12866	MERTK_HUMAN	M	478;478;73;302	ENSP00000295408:I478M;ENSP00000389152:I478M;ENSP00000387277:I302M	ENSP00000295408:I478M	I	+	3	3	MERTK	112468436	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.760000	0.04756	-1.636000	0.01533	-0.461000	0.05368	ATA		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			56	137	0	0	0	0.870114	0	56	137				
PIGO	84720	broad.mit.edu	37	9	35090187	35090187	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:35090187G>A	ENST00000378617.3	-	9	3339	c.2945C>T	c.(2944-2946)gCc>gTc	p.A982V	PIGO_ENST00000341666.3_Missense_Mutation_p.A982V|PIGO_ENST00000298004.5_Missense_Mutation_p.A565V|PIGO_ENST00000361778.2_Missense_Mutation_p.A565V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	982					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGACTCTGGCATCAGCTTC	0.607																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2944-2946)gCc>gTc		phosphatidylinositol glycan anchor biosynthesis, class O							70.0	64.0	66.0					9																	35090187		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090187G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2945C>T	9.37:g.35090187G>A	ENSP00000367880:p.Ala982Val					PIGO_ENST00000341666.3_Missense_Mutation_p.A982V|PIGO_ENST00000298004.5_Missense_Mutation_p.A565V|PIGO_ENST00000361778.2_Missense_Mutation_p.A565V	p.A982V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3339	-			982					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2945C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	8.469	0.857040	0.17106	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.56941	0.46;0.43;0.43;0.46	4.85	3.01	0.34805	.	0.725894	0.12843	N	0.434625	T	0.32496	0.0831	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.12167	-1.0558	10	0.21014	T	0.42	-4.1235	3.1446	0.06467	0.0862:0.1452:0.4297:0.339	.	565;982	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	V	565;982;982;565	ENSP00000298004:A565V;ENSP00000367880:A982V;ENSP00000339382:A982V;ENSP00000354678:A565V	ENSP00000298004:A565V	A	-	2	0	PIGO	35080187	0.119000	0.22226	0.694000	0.30210	0.280000	0.26924	0.328000	0.19681	1.415000	0.47037	-0.122000	0.15005	GCC		0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	60	0	0	0	0.184627	0	5	60				
TRMT1	55621	broad.mit.edu	37	19	13220782	13220782	+	Silent	SNP	G	G	A	rs139341662	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:13220782G>A	ENST00000592062.1	-	10	1623	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	TRMT1_ENST00000357720.4_Silent_p.C351C|TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000437766.1_Silent_p.C351C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	351	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGAAGGCCCCGCAGCCCACAC	0.642																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1051-1053)tgC>tgT		tRNA methyltransferase 1 homolog (S. cerevisiae)		G	,,	1,4405	2.1+/-5.4	0,1,2202	56.0	61.0	59.0		1053,,1053	-0.8	1.0	19	dbSNP_134	59	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron,coding-synonymous	TRMT1	NM_001136035.2,NM_001142554.1,NM_017722.3	,,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,,	351/660,,351/660	13220782	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220782G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1053C>T	19.37:g.13220782G>A						TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000357720.4_Silent_p.C351C|TRMT1_ENST00000437766.1_Silent_p.C351C	p.C351C			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	10	1623	-			351					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1053C>T	CCDS12293.1																																																																																				0.642	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		24	62	0	0	0	0.779181	0	24	62				
ATP13A3	79572	broad.mit.edu	37	3	194151926	194151926	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:194151926G>T	ENST00000439040.1	-	23	3242	c.2451C>A	c.(2449-2451)agC>agA	p.S817R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S817R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	817						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCTCTAAGCTATCATGGA	0.343																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2449-2451)agC>agA		ATPase type 13A3							116.0	107.0	110.0					3																	194151926		1883	4103	5986	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194151926G>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2451C>A	3.37:g.194151926G>T	ENSP00000416508:p.Ser817Arg					ATP13A3_ENST00000256031.4_Missense_Mutation_p.S817R	p.S817R			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	23	3242	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	817					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2451C>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932452	0.34096	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.86497	-2.13;-2.13	5.66	2.41	0.29592	HAD-like domain (1);	0.257853	0.51477	D	0.000091	T	0.76898	0.4052	L	0.28556	0.865	0.40392	D	0.979556	B	0.06786	0.001	B	0.12837	0.008	T	0.66077	-0.6013	10	0.16896	T	0.51	-1.6429	9.9455	0.41607	0.3626:0.0:0.6374:0.0	.	817	Q9H7F0	AT133_HUMAN	R	817;817;555	ENSP00000416508:S817R;ENSP00000256031:S817R	ENSP00000256031:S817R	S	-	3	2	ATP13A3	195633215	0.434000	0.25570	1.000000	0.80357	0.982000	0.71751	-0.195000	0.09546	0.724000	0.32296	-0.140000	0.14226	AGC		0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		5	276	1	0	0.0293803	0.248553	0.0296985	5	276				
HDAC9	9734	broad.mit.edu	37	7	18705937	18705937	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:18705937G>A	ENST00000432645.2	+	11	1560	c.1560G>A	c.(1558-1560)gcG>gcA	p.A520A	HDAC9_ENST00000456174.2_Silent_p.A492A|HDAC9_ENST00000401921.1_Silent_p.A479A|HDAC9_ENST00000406072.1_Silent_p.A507A|HDAC9_ENST00000524023.1_Silent_p.A443A|HDAC9_ENST00000405010.3_Silent_p.A520A|HDAC9_ENST00000428307.2_Silent_p.A476A|HDAC9_ENST00000441542.2_Silent_p.A523A|HDAC9_ENST00000406451.4_Silent_p.A520A|HDAC9_ENST00000417496.2_Silent_p.A518A	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	520					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGACAGAGCGCCCTCTAGTG	0.542											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1558-1560)gcG>gcA		histone deacetylase 9	Valproic Acid(DB00313)						108.0	120.0	116.0					7																	18705937		2046	4200	6246	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18705937G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1560G>A	7.37:g.18705937G>A			OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727	HDAC9_ENST00000405010.3_Silent_p.A520A|HDAC9_ENST00000456174.2_Silent_p.A492A|HDAC9_ENST00000401921.1_Silent_p.A479A|HDAC9_ENST00000417496.2_Silent_p.A518A|HDAC9_ENST00000524023.1_Silent_p.A443A|HDAC9_ENST00000428307.2_Silent_p.A476A|HDAC9_ENST00000441542.2_Silent_p.A523A|HDAC9_ENST00000406072.1_Silent_p.A507A|HDAC9_ENST00000432645.2_Silent_p.A520A	p.A520A	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			12	1710	+	all_lung(11;0.187)		520					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1560G>A	CCDS47555.1																																																																																				0.542	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			37	72	0	0	0	0.819951	0	37	72				
DMBX1	127343	broad.mit.edu	37	1	46972769	46972769	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:46972769G>A	ENST00000360032.3	+	1	101	c.87G>A	c.(85-87)caG>caA	p.Q29Q	DMBX1_ENST00000371956.4_Silent_p.Q29Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGCAGCCCAGCAGGCCCAGC	0.642																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(85-87)caG>caA		diencephalon/mesencephalon homeobox 1							74.0	62.0	66.0					1																	46972769		2203	4300	6503	SO:0001819	synonymous_variant	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46972769G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.87G>A	1.37:g.46972769G>A						DMBX1_ENST00000360032.3_Silent_p.Q29Q	p.Q29Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			1	102	+	Acute lymphoblastic leukemia(166;0.155)		29			Interacts with OXT2 and is required for repressor activity (By similarity).			Silent	SNP	ENST00000360032.3	37	c.87G>A	CCDS536.1																																																																																				0.642	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			18	18	0	0	0	0.539581	0	18	18				
NECAB2	54550	broad.mit.edu	37	16	84031849	84031849	+	Missense_Mutation	SNP	G	G	A	rs147666898		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:84031849G>A	ENST00000305202.4	+	10	906	c.889G>A	c.(889-891)Gag>Aag	p.E297K	NECAB2_ENST00000565691.1_Missense_Mutation_p.E214K|NECAB2_ENST00000567703.1_3'UTR	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	297	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CGTGTGCCCCGAGCAACTGAG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16779	0.0		0.0	False		,,,				2504	0.001					ENST00000565691.1																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(640-642)Gag>Aag		N-terminal EF-hand calcium binding protein 2		G	LYS/GLU	1,4399	2.1+/-5.4	0,1,2199	39.0	35.0	36.0		889	2.6	0.5	16	dbSNP_134	36	0,8600		0,0,4300	no	missense	NECAB2	NM_019065.2	56	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	297/387	84031849	1,12999	2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84031849G>A	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.889G>A	16.37:g.84031849G>A	ENSP00000307449:p.Glu297Lys					NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000305202.4_Missense_Mutation_p.E297K	p.E214K			Q7Z6G3	NECA2_HUMAN			8	1362	+			297					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.640G>A	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298763	0.23650	2.27E-4	0.0	ENSG00000103154	ENST00000305202	T	0.35048	1.33	4.64	2.62	0.31277	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.063203	0.64402	D	0.000004	T	0.27419	0.0673	L	0.28115	0.83	0.28784	N	0.899663	D	0.57571	0.98	P	0.51229	0.663	T	0.07214	-1.0784	10	0.30854	T	0.27	-38.7062	3.3948	0.07302	0.1831:0.0:0.5878:0.2292	.	297	Q7Z6G3	NECA2_HUMAN	K	297	ENSP00000307449:E297K	ENSP00000307449:E297K	E	+	1	0	NECAB2	82589350	0.998000	0.40836	0.521000	0.27850	0.295000	0.27426	3.314000	0.51943	0.895000	0.36342	0.462000	0.41574	GAG		0.652	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		14	24	0	0	0	0.500413	0	14	24				
PLB1	151056	broad.mit.edu	37	2	28841245	28841245	+	Silent	SNP	C	C	T	rs201645442	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:28841245C>T	ENST00000327757.5	+	46	3338	c.3294C>T	c.(3292-3294)gcC>gcT	p.A1098A	PLB1_ENST00000422425.2_Silent_p.A1087A|PLB1_ENST00000541605.1_Silent_p.A63A	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1098	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGTGGTGGCCGCCCTGGGTG	0.582																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(3259-3261)gcC>gcT		phospholipase B1							97.0	91.0	93.0					2																	28841245		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28841245C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3294C>T	2.37:g.28841245C>T						PLB1_ENST00000327757.5_Silent_p.A1098A|PLB1_ENST00000541605.1_Silent_p.A63A	p.A1087A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			45	3305	+	Acute lymphoblastic leukemia(172;0.155)		1098			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.3261C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168386	0.21621	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	T	0.43114	-0.9411	4	.	.	.	-21.9814	3.6938	0.08357	0.2296:0.1173:0.0765:0.5766	.	.	.	.	L	1086	.	.	P	+	2	0	PLB1	28694749	0.000000	0.05858	0.268000	0.24571	0.890000	0.51754	-3.669000	0.00398	-2.484000	0.00521	-0.350000	0.07774	CCG		0.582	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			5	75	0	0	0	0.217242	0	5	75				
F8	2157	broad.mit.edu	37	X	154158320	154158320	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:154158320G>A	ENST00000360256.4	-	14	3945	c.3745C>T	c.(3745-3747)Ctg>Ttg	p.L1249L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1249	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTAGTGCTCAGTAAGAAAAGG	0.348																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3745-3747)Ctg>Ttg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						69.0	58.0	62.0					X																	154158320		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158320G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3745C>T	X.37:g.154158320G>A							p.L1249L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3945	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1249			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.3745C>T	CCDS35457.1																																																																																				0.348	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			30	82	0	0	0	0.760397	0	30	82				
DDX42	11325	broad.mit.edu	37	17	61898462	61898462	+	IGR	SNP	G	G	A	rs145334305	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:61898462G>A	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.R634C	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTACCACGGAGGGGTTCC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.002					ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1900-1902)Cgt>Tgt		FtsJ homolog 3 (E. coli)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	67.0	69.0		1900	0.7	0.0	17	dbSNP_134	69	0,8600		0,0,4300	no	missense	FTSJ3	NM_017647.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	634/848	61898462	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61898462G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61898462G>A							p.R634C	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			17	2545	-			634					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1900C>T	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555767	0.45487	2.27E-4	0.0	ENSG00000108592	ENST00000427159	T	0.32515	1.45	5.03	0.717	0.18196	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	1.477220	0.04739	N	0.422527	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.27739	-1.0065	10	0.56958	D	0.05	0.7882	5.2675	0.15607	0.1788:0.3211:0.5:0.0	.	634	Q8IY81	RRMJ3_HUMAN	C	634	ENSP00000396673:R634C	ENSP00000396673:R634C	R	-	1	0	FTSJ3	59252194	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.452000	0.21795	0.028000	0.15324	-0.251000	0.11542	CGT		0.532	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		32	65	0	0	0	0.788014	0	32	65				
SLC26A9	115019	broad.mit.edu	37	1	205888081	205888081	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:205888081C>T	ENST00000367135.3	-	19	2256	c.2143G>A	c.(2143-2145)Gtc>Atc	p.V715I	SLC26A9_ENST00000367134.2_Missense_Mutation_p.V715I|SLC26A9_ENST00000340781.4_Missense_Mutation_p.V715I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	715	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCTCAAAGACGCCTCCATGG	0.512											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2143-2145)Gtc>Atc		solute carrier family 26 (anion exchanger), member 9							298.0	291.0	293.0					1																	205888081		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205888081C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2143G>A	1.37:g.205888081C>T	ENSP00000356103:p.Val715Ile		OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_ENST00000340781.4_Missense_Mutation_p.V715I|SLC26A9_ENST00000367134.2_Missense_Mutation_p.V715I	p.V715I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2256	-	Breast(84;0.201)		715			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2143G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306369	0.40795	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.87887	-2.31;-2.31;-2.31	5.2	1.15	0.20763	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.417445	0.23724	N	0.045188	T	0.76630	0.4014	L	0.31664	0.95	0.26651	N	0.972093	B;B	0.19583	0.008;0.037	B;B	0.16722	0.005;0.016	T	0.66364	-0.5942	10	0.72032	D	0.01	.	5.813	0.18477	0.0:0.5865:0.1281:0.2854	.	715;715	Q7LBE3;B1AVM8	S26A9_HUMAN;.	I	715	ENSP00000341682:V715I;ENSP00000356103:V715I;ENSP00000356102:V715I	ENSP00000341682:V715I	V	-	1	0	SLC26A9	204154704	0.061000	0.20836	0.331000	0.25455	0.982000	0.71751	0.383000	0.20651	0.025000	0.15241	0.563000	0.77884	GTC		0.512	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		8	513	0	0	0	0.278610	0	8	513				
GRM3	2913	broad.mit.edu	37	7	86468878	86468878	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:86468878T>C	ENST00000361669.2	+	4	3147	c.2048T>C	c.(2047-2049)aTc>aCc	p.I683T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I555T|GRM3_ENST00000546348.1_Missense_Mutation_p.I275T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	683					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAAAATTCATCAGCCCCAGT	0.542																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2047-2049)aTc>aCc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						75.0	74.0	74.0					7																	86468878		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468878T>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2048T>C	7.37:g.86468878T>C	ENSP00000355316:p.Ile683Thr					GRM3_ENST00000536043.1_Missense_Mutation_p.I555T|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I275T	p.I683T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3147	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		683					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2048T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520978	0.64747	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87887	-2.31;-2.31;-2.31	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	L	0.41573	1.285	0.80722	D	1	P;D;D	0.65815	0.946;0.993;0.995	P;D;D	0.69479	0.646;0.939;0.964	D	0.90515	0.4484	10	0.52906	T	0.07	.	15.1171	0.72410	0.0:0.0:0.0:1.0	.	275;555;683	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	T	683;275;555	ENSP00000355316:I683T;ENSP00000444064:I275T;ENSP00000441407:I555T	ENSP00000355316:I683T	I	+	2	0	GRM3	86306814	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.166000	0.68216	0.460000	0.39030	ATC		0.542	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			52	93	0	0	0	0.870114	0	52	93				
KIAA1549L	25758	broad.mit.edu	37	11	33564206	33564206	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:33564206A>G	ENST00000321505.4	+	1	386	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.Q69R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.Q69R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	69						integral component of membrane (GO:0016021)											AGTCTTCTTCAGCTTCCAGAT	0.562																																						ENST00000321505.4																			0											c.(205-207)cAg>cGg		KIAA1549-like							67.0	68.0	68.0					11																	33564206		1918	4106	6024	SO:0001583	missense	25758							g.chr11:33564206A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.206A>G	11.37:g.33564206A>G	ENSP00000315295:p.Gln69Arg					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.Q69R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.Q69R	p.Q69R							1	386	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.206A>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.482619	0.00163	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	4.45	-4.19	0.03835	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33085	-0.9882	8	0.09338	T	0.73	.	6.3707	0.21479	0.2371:0.1157:0.6472:0.0	.	69;69	E9PAT2;Q6ZVL6-2	.;.	R	69	.	ENSP00000265654:Q69R	Q	+	2	0	C11orf41	33520782	0.031000	0.19500	0.004000	0.12327	0.002000	0.02628	0.013000	0.13310	-1.300000	0.02341	-1.145000	0.01858	CAG		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		27	61	0	0	0	0.769981	0	27	61				
ZNF687	57592	broad.mit.edu	37	1	151259818	151259818	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151259818T>C	ENST00000368879.2	+	2	1149	c.1051T>C	c.(1051-1053)Tca>Cca	p.S351P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGTCCCCTCAGATCCTGA	0.557																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1051-1053)Tca>Cca		zinc finger protein 687							64.0	61.0	62.0					1																	151259818		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259818T>C		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1051T>C	1.37:g.151259818T>C	ENSP00000357874:p.Ser351Pro						p.S351P	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1149	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		351					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1051T>C		.	.	.	.	.	.	.	.	.	.	T	2.511	-0.312870	0.05422	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00705	5.81;5.81;6.14	5.02	5.02	0.67125	.	0.000000	0.29646	N	0.011575	T	0.00328	0.0010	N	0.13043	0.29	0.41583	D	0.988755	B;B;B	0.30455	0.28;0.039;0.28	B;B;B	0.31337	0.128;0.039;0.118	T	0.69833	-0.5038	9	.	.	.	.	13.8618	0.63566	0.0:0.0:0.0:1.0	.	351;351;351	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	P	351	ENSP00000336620:S351P;ENSP00000319829:S351P;ENSP00000357874:S351P	.	S	+	1	0	ZNF687	149526442	0.998000	0.40836	1.000000	0.80357	0.071000	0.16799	4.807000	0.62576	2.118000	0.64928	0.459000	0.35465	TCA		0.557	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		26	42	0	0	0	0.681144	0	26	42				
IGHG4	3503	broad.mit.edu	37	14	106091234	106091234	+	RNA	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:106091234T>C	ENST00000390543.2	-	0	659							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GGGTCCCACCTTTGGCTTTGG	0.622																																						ENST00000390543.2																			0																				196.0	258.0	237.0					14																	106091234		2114	4234	6348			3503							g.chr14:106091234T>C	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091234T>C														0	659	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.622	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		106	192	0	0	0	0.870114	0	106	192				
EXD3	54932	broad.mit.edu	37	9	140243598	140243598	+	Silent	SNP	G	G	A	rs368133491		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:140243598G>A	ENST00000340951.4	-	16	1989	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	EXD3_ENST00000342129.4_Silent_p.G278G	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CTTTCTGCAGGCCGGGTGGCT	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(1792-1794)ggC>ggT		exonuclease 3'-5' domain containing 3							17.0	22.0	20.0					9																	140243598		1979	4146	6125	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140243598G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1794C>T	9.37:g.140243598G>A						EXD3_ENST00000342129.4_Silent_p.G278G	p.G598G	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			16	1989	-			598					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.1794C>T	CCDS48066.1																																																																																				0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		4	4	0	0	0	0.248553	0	4	4				
CATSPERG	57828	broad.mit.edu	37	19	38853150	38853150	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:38853150T>C	ENST00000409235.3	+	19	2407	c.2292T>C	c.(2290-2292)acT>acC	p.T764T	CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Silent_p.T724T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	764					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAAGGGCACTGAGTACAGCT	0.627																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2290-2292)acT>acC		catsper channel auxiliary subunit gamma							64.0	59.0	61.0					19																	38853150		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853150T>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2292T>C	19.37:g.38853150T>C						CATSPERG_ENST00000410018.1_Silent_p.T724T|CATSPERG_ENST00000215069.4_3'UTR	p.T764T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			19	2407	+			764					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2292T>C	CCDS12514.2																																																																																				0.627	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		23	60	0	0	0	0.717897	0	23	60				
SEC13	6396	broad.mit.edu	37	3	10346828	10346828	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:10346828G>A	ENST00000350697.3	-	7	722	c.597C>T	c.(595-597)gaC>gaT	p.D199D	SEC13_ENST00000397109.3_Silent_p.D185D|SEC13_ENST00000337354.4_Silent_p.D202D|SEC13_ENST00000383801.2_Silent_p.D245D|SEC13_ENST00000492602.1_5'Flank|SEC13_ENST00000397117.1_Silent_p.D185D	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	199					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TCCACTGGCCGTCCTCCTCCT	0.632																																						ENST00000397117.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(553-555)gaC>gaT		SEC13 homolog (S. cerevisiae)							97.0	86.0	90.0					3																	10346828		2203	4300	6503	SO:0001819	synonymous_variant	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10346828G>A		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.597C>T	3.37:g.10346828G>A						SEC13_ENST00000383801.2_Silent_p.D245D|SEC13_ENST00000350697.3_Silent_p.D199D|SEC13_ENST00000397109.3_Silent_p.D185D|SEC13_ENST00000337354.4_Silent_p.D202D	p.D185D			P55735	SEC13_HUMAN			7	1146	-			199					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Silent	SNP	ENST00000350697.3	37	c.555C>T	CCDS2599.1																																																																																				0.632	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			22	12	0	0	0	0.706142	0	22	12				
SRCIN1	80725	broad.mit.edu	37	17	36705381	36705381	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:36705381G>T	ENST00000264659.7	-	16	3252	c.3028C>A	c.(3028-3030)Cgc>Agc	p.R1010S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1044S|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	882					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AAGCTCCGGCGGGGAGGGGGC	0.662																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(3028-3030)Cgc>Agc		SRC kinase signaling inhibitor 1							21.0	23.0	22.0					17																	36705381		1845	4070	5915	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36705381G>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3028C>A	17.37:g.36705381G>T	ENSP00000264659:p.Arg1010Ser					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1044S	p.R1010S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			16	3252	-			882					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.3028C>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660222	0.88154	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.60672	0.17	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.73598	2.24	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79614	-0.1730	10	0.87932	D	0	-22.5682	17.6994	0.88290	0.0:0.0:1.0:0.0	.	882;882;1010	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	S	1010;791;864	ENSP00000264659:R1010S	ENSP00000264659:R1010S	R	-	1	0	SRCIN1	33958907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.892000	0.75644	2.474000	0.83562	0.555000	0.69702	CGC		0.662	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		10	18	1	0	5.16669e-11	0.387290	5.46602e-11	10	18				
TNXB	7148	broad.mit.edu	37	6	32015543	32015543	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:32015543C>T	ENST00000375244.3	-	30	10493	c.10292G>A	c.(10291-10293)cGa>cAa	p.R3431Q	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.R3429Q			P22105	TENX_HUMAN	tenascin XB	3476	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCCCAGTCGTTTCCTGCC	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10291-10293)cGa>cAa		tenascin XB							32.0	39.0	37.0					6																	32015543		1344	2576	3920	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015543C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10292G>A	6.37:g.32015543C>T	ENSP00000364393:p.Arg3431Gln					TNXB_ENST00000375247.2_Missense_Mutation_p.R3429Q	p.R3431Q			P22105	TENX_HUMAN			30	10493	-			3476			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10292G>A		.	.	.	.	.	.	.	.	.	.	C	17.23	3.336562	0.60963	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04758	3.56;3.56	4.76	3.89	0.44902	.	0.156137	0.30329	N	0.009869	T	0.09335	0.0230	M	0.85197	2.74	0.26150	N	0.980159	D	0.58268	0.982	D	0.64595	0.927	T	0.15983	-1.0418	10	0.25106	T	0.35	.	10.2362	0.43284	0.0:0.9062:0.0:0.0938	.	3429	P22105-3	.	Q	3431;3429	ENSP00000364393:R3431Q;ENSP00000364396:R3429Q	ENSP00000364393:R3431Q	R	-	2	0	TNXB	32123521	0.592000	0.26832	0.928000	0.36995	0.329000	0.28539	1.403000	0.34612	1.217000	0.43442	0.591000	0.81541	CGA		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		20	25	0	0	0	0.608945	0	20	25				
SNAP91	9892	broad.mit.edu	37	6	84302944	84302944	+	Silent	SNP	C	C	A	rs562452559		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:84302944C>A	ENST00000439399.2	-	19	2047	c.1731G>T	c.(1729-1731)gcG>gcT	p.A577A	SNAP91_ENST00000521485.1_Silent_p.A577A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521743.1_Silent_p.A577A|SNAP91_ENST00000428679.2_Silent_p.A577A|SNAP91_ENST00000520302.1_Silent_p.A575A|SNAP91_ENST00000195649.6_Silent_p.A577A|SNAP91_ENST00000369694.2_Silent_p.A577A	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	577	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTGGCTTAGGCGCTGCAGCAA	0.413																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1729-1731)gcG>gcT		synaptosomal-associated protein, 91kDa							54.0	55.0	55.0					6																	84302944		2024	4194	6218	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84302944C>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1731G>T	6.37:g.84302944C>A						SNAP91_ENST00000369694.2_Silent_p.A577A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Silent_p.A577A|SNAP91_ENST00000195649.6_Silent_p.A577A|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000439399.2_Silent_p.A577A|SNAP91_ENST00000521743.1_Silent_p.A577A|SNAP91_ENST00000520302.1_Silent_p.A575A	p.A577A			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	19	2324	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	577			Ala-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.1731G>T	CCDS47455.1																																																																																				0.413	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			3	11	1	0	0.217242	0.217242	0.218282	3	11				
NOC3L	64318	broad.mit.edu	37	10	96116290	96116290	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:96116290A>G	ENST00000371361.3	-	5	666		c.e5+1		NOC3L_ENST00000463649.1_Splice_Site|NOC3L_ENST00000371350.1_Splice_Site	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)						fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGACATATTACCTTCCTCAA	0.284																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.e5+1		nucleolar complex associated 3 homolog (S. cerevisiae)							190.0	198.0	195.0					10																	96116290		2202	4300	6502	SO:0001630	splice_region_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96116290A>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.565+1T>C	10.37:g.96116290A>G						NOC3L_ENST00000371350.1_Splice_Site|NOC3L_ENST00000463649.1_Splice_Site		NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			5	666	-		Colorectal(252;0.0897)						Q9H5M6|Q9H9D8	Splice_Site	SNP	ENST00000371361.3	37		CCDS7433.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430134	0.25726	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7399	0.57246	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOC3L	96106280	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.036000	0.64164	2.168000	0.68352	0.528000	0.53228	.		0.284	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	Intron	108	207	0	0	0	0.870114	0	108	207				
SOS2	6655	broad.mit.edu	37	14	50666497	50666497	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:50666497A>G	ENST00000216373.5	-	4	696	c.422T>C	c.(421-423)aTt>aCt	p.I141T	SOS2_ENST00000543680.1_Missense_Mutation_p.I141T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	141					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAATTTTAAAATATCAGCTGA	0.328																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(421-423)aTt>aCt		son of sevenless homolog 2 (Drosophila)							75.0	80.0	78.0					14																	50666497		2203	4294	6497	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50666497A>G	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.422T>C	14.37:g.50666497A>G	ENSP00000216373:p.Ile141Thr					SOS2_ENST00000543680.1_Missense_Mutation_p.I141T	p.I141T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			4	696	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		141					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.422T>C	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398242	0.83120	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.89270	-2.49;-2.49	4.98	4.98	0.66077	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95754	0.8794	10	0.87932	D	0	.	14.9666	0.71198	1.0:0.0:0.0:0.0	.	141;141	B7ZKT6;Q07890	.;SOS2_HUMAN	T	141	ENSP00000216373:I141T;ENSP00000445328:I141T	ENSP00000216373:I141T	I	-	2	0	SOS2	49736247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.009000	0.58944	0.460000	0.39030	ATT		0.328	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			195	93	0	0	0	0.870114	0	195	93				
SYVN1	84447	broad.mit.edu	37	11	64898665	64898665	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64898665C>T	ENST00000377190.3	-	9	856	c.762G>A	c.(760-762)caG>caA	p.Q254Q	SYVN1_ENST00000307289.6_Silent_p.Q203Q|SYVN1_ENST00000294256.8_Silent_p.Q254Q|SYVN1_ENST00000526121.1_5'UTR|SYVN1_ENST00000526060.1_Silent_p.Q254Q	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	254	Interaction with p53/TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTTTCTTGAACTGTCTGAAAG	0.572																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(760-762)caG>caA		synovial apoptosis inhibitor 1, synoviolin							87.0	76.0	80.0					11																	64898665		2201	4297	6498	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64898665C>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.762G>A	11.37:g.64898665C>T						SYVN1_ENST00000377190.3_Silent_p.Q254Q|SYVN1_ENST00000307289.6_Silent_p.Q203Q|SYVN1_ENST00000294256.8_Silent_p.Q254Q|SYVN1_ENST00000526121.1_5'UTR	p.Q254Q			Q86TM6	SYVN1_HUMAN			9	954	-			254			Interaction with p53/TP53.		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.762G>A	CCDS31605.1																																																																																				0.572	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		14	26	0	0	0	0.435327	0	14	26				
PSMD11	5717	broad.mit.edu	37	17	30800953	30800953	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:30800953A>G	ENST00000261712.3	+	7	1041	c.778A>G	c.(778-780)Atg>Gtg	p.M260V	PSMD11_ENST00000457654.2_Missense_Mutation_p.M260V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	260	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGCAAAATCATGCTCAACAC	0.483																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(778-780)Atg>Gtg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							183.0	145.0	158.0					17																	30800953		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30800953A>G	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.778A>G	17.37:g.30800953A>G	ENSP00000261712:p.Met260Val					PSMD11_ENST00000457654.2_Missense_Mutation_p.M260V	p.M260V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1041	+		Breast(31;0.159)|Ovarian(249;0.182)	260			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.778A>G	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814542	0.32053	.	.	ENSG00000108671	ENST00000261712	T	0.75367	-0.93	5.22	5.22	0.72569	PCI/PINT associated module (1);	0.040906	0.85682	D	0.000000	T	0.81740	0.4886	M	0.94101	3.495	0.58432	D	0.999999	B;B	0.18610	0.029;0.027	B;B	0.27170	0.077;0.054	T	0.82279	-0.0536	10	0.72032	D	0.01	-12.1272	13.0926	0.59174	1.0:0.0:0.0:0.0	.	260;260	B4DTS5;O00231	.;PSD11_HUMAN	V	260	ENSP00000261712:M260V	ENSP00000261712:M260V	M	+	1	0	PSMD11	27825066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.142000	0.77339	2.185000	0.69588	0.533000	0.62120	ATG		0.483	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		44	102	0	0	0	0.853193	0	44	102				
HBE1	3046	broad.mit.edu	37	11	5291119	5291119	+	Start_Codon_SNP	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:5291119A>G	ENST00000380237.1	-	3	346	c.2T>C	c.(1-3)aTg>aCg	p.M1T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Start_Codon_SNP_p.M1T|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	1					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAATGCACCATGATGCCAGG	0.522																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(1-3)aTg>aCg		hemoglobin, epsilon 1							102.0	90.0	94.0					11																	5291119		2201	4297	6498	SO:0001582	initiator_codon_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5291119A>G	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.2T>C	11.37:g.5291119A>G	ENSP00000369586:p.Met1Thr					HBE1_ENST00000292896.2_Start_Codon_SNP_p.M1T|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.M1T			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	346	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	1					Q6FH44	Translation_Start_Site	SNP	ENST00000380237.1	37	c.2T>C	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248180	0.80024	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.88975	-2.45;-2.45;-2.45	5.81	5.81	0.92471	.	0.000000	0.85682	U	0.000000	D	0.93242	0.7847	.	.	.	0.80722	D	1	D	0.62365	0.991	P	0.59288	0.855	D	0.93994	0.7269	9	0.87932	D	0	-51.9231	14.988	0.71362	1.0:0.0:0.0:0.0	.	1	P02100	HBE_HUMAN	T	1	ENSP00000369586:M1T;ENSP00000292896:M1T;ENSP00000380104:M1T	ENSP00000292896:M1T	M	-	2	0	HBE1	5247695	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	8.204000	0.89741	2.224000	0.72417	0.477000	0.44152	ATG		0.522	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330	Missense_Mutation	5	44	0	0	0	0.184627	0	5	44				
SERPINI1	5274	broad.mit.edu	37	3	167508322	167508322	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:167508322A>G	ENST00000295777.5	+	3	844	c.413A>G	c.(412-414)cAt>cGt	p.H138R	SERPINI1_ENST00000446050.2_Missense_Mutation_p.H138R	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GCAGTAAATCATGTGGACTTC	0.363																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(412-414)cAt>cGt		serpin peptidase inhibitor, clade I (neuroserpin), member 1							124.0	124.0	124.0					3																	167508322		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508322A>G	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.413A>G	3.37:g.167508322A>G	ENSP00000295777:p.His138Arg					SERPINI1_ENST00000446050.2_Missense_Mutation_p.H138R	p.H138R	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	844	+			138					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.413A>G	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	9.816	1.184581	0.21870	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.51	3.12	0.35913	Serpin domain (3);	0.259916	0.42682	N	0.000671	T	0.62962	0.2471	N	0.04787	-0.16	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48990	-0.8985	10	0.19147	T	0.46	.	9.8366	0.40973	0.8607:0.0:0.1393:0.0	.	138	Q99574	NEUS_HUMAN	R	138	ENSP00000420133:H138R;ENSP00000397373:H138R;ENSP00000295777:H138R;ENSP00000420561:H138R	ENSP00000295777:H138R	H	+	2	0	SERPINI1	168991016	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.073000	0.50057	0.391000	0.25143	0.455000	0.32223	CAT		0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			33	105	0	0	0	0.750413	0	33	105				
SMARCA4	6597	broad.mit.edu	37	19	11143964	11143964	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:11143964A>G	ENST00000429416.3	+	27	3827		c.e27-1		SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCTTCCCCCAGGACCTGCAA	0.627			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.e26-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							39.0	41.0	40.0					19																	11143964		2203	4298	6501	SO:0001630	splice_region_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143964A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3547-1A>G	19.37:g.11143964A>G						SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site		NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3830	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)						B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37		CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883824	0.51908	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3948	0.60846	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA4	11004964	1.000000	0.71417	0.957000	0.39632	0.738000	0.42128	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	.		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Intron	24	23	0	0	0	0.681144	0	24	23				
MYO3B	140469	broad.mit.edu	37	2	171092598	171092598	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:171092598C>A	ENST00000408978.4	+	7	844	c.701C>A	c.(700-702)cCt>cAt	p.P234H	MYO3B_ENST00000334231.6_Missense_Mutation_p.P243H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.P234H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATGGAGACCCTCCCCTCTTT	0.488											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(727-729)cCt>cAt		myosin IIIB							192.0	179.0	183.0					2																	171092598		1975	4170	6145	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171092598C>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.701C>A	2.37:g.171092598C>A	ENSP00000386213:p.Pro234His		OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1890	MYO3B_ENST00000408978.4_Missense_Mutation_p.P234H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.P234H	p.P243H			Q8WXR4	MYO3B_HUMAN			7	728	+			234			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.728C>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725923	0.89298	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.47	5.47	0.80525	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	0.46870	0.1415	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;1.0	T	0.45585	-0.9251	10	0.87932	D	0	.	19.7017	0.96057	0.0:1.0:0.0:0.0	.	234;234;234;234	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	H	234;234;233;243;243	ENSP00000386497:P234H;ENSP00000386213:P234H;ENSP00000446237:P243H;ENSP00000335100:P243H	ENSP00000314213:P233H	P	+	2	0	MYO3B	170800844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.724000	0.93272	0.561000	0.74099	CCT		0.488	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			81	151	1	0	1.21826e-31	0.870114	1.35362e-31	81	151				
IL6R	3570	broad.mit.edu	37	1	154408588	154408588	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154408588T>C	ENST00000368485.3	+	6	1386		c.e6+2		IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Intron	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor						acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTTGGACAGGTACTGCGGTGG	0.587																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.e6+2		interleukin 6 receptor							90.0	79.0	83.0					1																	154408588		2203	4300	6503	SO:0001630	splice_region_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154408588T>C	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.949+2T>C	1.37:g.154408588T>C						IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Intron		NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1386	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)							A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Splice_Site	SNP	ENST00000368485.3	37		CCDS1067.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053438	0.36181	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000476006;ENST00000515190	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4486	0.50138	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL6R	152675212	1.000000	0.71417	0.998000	0.56505	0.308000	0.27856	3.874000	0.56101	1.959000	0.56917	0.533000	0.62120	.		0.587	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	Intron	3	33	0	0	0	0.115264	0	3	33				
MRC1	4360	broad.mit.edu	37	10	18122710	18122710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:18122710G>A	ENST00000239761.3	+	4	823	c.720G>A	c.(718-720)tgG>tgA	p.W240*		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	240	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CTTTAACGTGGCACCAAGCGA	0.463																																					GBM(115;1153 1594 28187 28781 35884)	ENST00000239761.3																			0				breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(718-720)tgG>tgA		mannose receptor, C type 1							85.0	76.0	79.0					10																	18122710		1622	3591	5213	SO:0001587	stop_gained	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:18122710G>A	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"""CD molecules"", ""C-type lectin domain containing"""	7228	protein-coding gene	gene with protein product		153618	"""mannose receptor, C type 1-like 1"""	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.720G>A	10.37:g.18122710G>A	ENSP00000239761:p.Trp240*						p.W240*	NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN			4	823	+			240			C-type lectin 1.		A5PKW3|Q5VSJ2|Q5VSK2	Nonsense_Mutation	SNP	ENST00000239761.3	37	c.720G>A	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369048	0.82463	.	.	ENSG00000120586	ENST00000239761	.	.	.	3.57	3.57	0.40892	.	0.000000	0.52532	U	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8111	15.3319	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000239761:W240X	W	+	3	0	MRC1	18162716	1.000000	0.71417	0.991000	0.47740	0.051000	0.14879	9.465000	0.97660	1.804000	0.52760	0.436000	0.28706	TGG		0.463	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		5	270	0	0	0	0.184627	0	5	270				
CCT8	10694	broad.mit.edu	37	21	30439048	30439048	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:30439048A>G	ENST00000286788.4	-	6	819	c.613T>C	c.(613-615)Tgt>Cgt	p.C205R	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.C132R|CCT8_ENST00000542732.1_Missense_Mutation_p.C186R	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	205					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGAATTTTACAAACTCTGATG	0.289																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(613-615)Tgt>Cgt		chaperonin containing TCP1, subunit 8 (theta)							53.0	56.0	55.0					21																	30439048		2203	4297	6500	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30439048A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.613T>C	21.37:g.30439048A>G	ENSP00000286788:p.Cys205Arg					CCT8_ENST00000540844.1_Missense_Mutation_p.C132R|CCT8_ENST00000542732.1_Missense_Mutation_p.C186R|CCT8_ENST00000470450.1_5'UTR	p.C205R	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			6	819	-			205					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.613T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401772	0.83120	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.78246	-1.16;-1.16;-1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.54601	0.967;0.96;0.967;0.959;0.925	P;P;P;P;B	0.60068	0.822;0.813;0.868;0.792;0.436	D	0.86907	0.2058	10	0.52906	T	0.07	-13.2436	16.5764	0.84681	1.0:0.0:0.0:0.0	.	132;186;205;204;205	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	R	204;205;186;132	ENSP00000286788:C205R;ENSP00000444984:C186R;ENSP00000442730:C132R	ENSP00000286788:C205R	C	-	1	0	CCT8	29360919	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.816000	0.91979	2.371000	0.80710	0.533000	0.62120	TGT		0.289	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			47	64	0	0	0	0.870114	0	47	64				
GRK6	2870	broad.mit.edu	37	5	176868029	176868029	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:176868029T>C	ENST00000355472.5	+	15	1820	c.1652T>C	c.(1651-1653)cTg>cCg	p.L551P	GRK6_ENST00000393576.3_Missense_Mutation_p.L517P|GRK6_ENST00000528793.1_Missense_Mutation_p.L551P|GRK6_ENST00000355958.5_Missense_Mutation_p.L551P|PRR7-AS1_ENST00000425316.3_RNA|PRR7-AS1_ENST00000511565.1_RNA|PRR7-AS1_ENST00000514846.1_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	551					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AAAAAGGGACTGCTGCAGAGA	0.627																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1651-1653)cTg>cCg		G protein-coupled receptor kinase 6							31.0	32.0	32.0					5																	176868029		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176868029T>C		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1652T>C	5.37:g.176868029T>C	ENSP00000347655:p.Leu551Pro					PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Missense_Mutation_p.L517P|GRK6_ENST00000355958.5_Missense_Mutation_p.L551P|GRK6_ENST00000528793.1_Missense_Mutation_p.L551P	p.L551P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	1820	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	551					O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.1652T>C	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158332	0.78114	.	.	ENSG00000198055	ENST00000355472;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T	0.74947	-0.56;-0.89;-0.58;-0.58	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	D	0.85626	0.5740	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.997	D	0.87364	0.2346	10	0.72032	D	0.01	-23.085	15.0826	0.72127	0.0:0.0:0.0:1.0	.	551;521;551	P43250;B3KPS5;P43250-2	GRK6_HUMAN;.;.	P	551;517;551;551	ENSP00000347655:L551P;ENSP00000377204:L517P;ENSP00000348230:L551P;ENSP00000433511:L551P	ENSP00000347655:L551P	L	+	2	0	GRK6	176800635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.040000	0.60383	0.533000	0.62120	CTG		0.627	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		6	19	0	0	0	0.307466	0	6	19				
CORO1B	57175	broad.mit.edu	37	11	67207642	67207642	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:67207642A>G	ENST00000341356.5	-	8	1064	c.954T>C	c.(952-954)ggT>ggC	p.G318G	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.G318G	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	318					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGCTGCCCATACCCCGCTGCG	0.612																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(952-954)ggT>ggC		coronin, actin binding protein, 1B							68.0	71.0	70.0					11																	67207642		2200	4295	6495	SO:0001819	synonymous_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67207642A>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.954T>C	11.37:g.67207642A>G						CORO1B_ENST00000341356.5_Silent_p.G318G|CORO1B_ENST00000539724.1_5'UTR	p.G318G	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		9	1057	-			318					B2RD45	Silent	SNP	ENST00000341356.5	37	c.954T>C	CCDS8164.1																																																																																				0.612	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		34	60	0	0	0	0.804634	0	34	60				
NFATC1	4772	broad.mit.edu	37	18	77193724	77193724	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:77193724C>A	ENST00000427363.2	+	3	1372	c.1372C>A	c.(1372-1374)Cac>Aac	p.H458N	NFATC1_ENST00000253506.5_Missense_Mutation_p.H458N|NFATC1_ENST00000318065.5_Missense_Mutation_p.H445N|NFATC1_ENST00000586434.1_Missense_Mutation_p.H445N|NFATC1_ENST00000542384.1_Missense_Mutation_p.H458N|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.H445N|NFATC1_ENST00000591814.1_Missense_Mutation_p.H458N|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.H458N|NFATC1_ENST00000329101.4_Missense_Mutation_p.H445N			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	458	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GGCCGGAGGACACCCCATCGT	0.612																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1372-1374)Cac>Aac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							48.0	49.0	49.0					18																	77193724		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77193724C>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1372C>A	18.37:g.77193724C>A	ENSP00000389377:p.His458Asn					NFATC1_ENST00000586434.1_Missense_Mutation_p.H445N|NFATC1_ENST00000329101.4_Missense_Mutation_p.H445N|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.H458N|NFATC1_ENST00000427363.2_Missense_Mutation_p.H458N|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.H458N|NFATC1_ENST00000318065.5_Missense_Mutation_p.H445N|NFATC1_ENST00000592223.1_Missense_Mutation_p.H445N|NFATC1_ENST00000591814.1_Missense_Mutation_p.H458N	p.H458N	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1741	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	458			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1372C>A		.	.	.	.	.	.	.	.	.	.	C	18.29	3.591332	0.66219	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.45276	0.9;0.9;0.9	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.84082	2.675	0.80722	D	1	P;P;P;P;P;D;P	0.58970	0.936;0.936;0.892;0.892;0.892;0.984;0.892	P;P;P;P;P;D;P	0.63877	0.467;0.467;0.564;0.789;0.789;0.919;0.564	T	0.74115	-0.3769	10	0.87932	D	0	-24.9888	17.1628	0.86808	0.0:1.0:0.0:0.0	.	445;445;458;458;458;445;458	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	N	458;458;458;445;445;422	ENSP00000253506:H458N;ENSP00000442435:H458N;ENSP00000327850:H445N	ENSP00000253506:H458N	H	+	1	0	NFATC1	75294712	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	CAC		0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		27	45	1	0	4.3181e-19	0.769981	4.70454e-19	27	45				
SERPIND1	3053	broad.mit.edu	37	22	21140426	21140426	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:21140426C>T	ENST00000215727.5	+	4	1581	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433V|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	433					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CAAAGGATCGCCATCGACCTG	0.567																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1297-1299)gCc>gTc		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						192.0	160.0	171.0					22																	21140426		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21140426C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1298C>T	22.37:g.21140426C>T	ENSP00000215727:p.Ala433Val					SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433V|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	p.A433V	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		4	1581	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	433					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.1298C>T	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	8.001	0.755511	0.15846	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.87334	-2.24;-2.24	4.98	-1.78	0.07957	Serpin domain (3);	1.556280	0.02714	N	0.113191	T	0.70037	0.3178	N	0.03294	-0.36	0.20638	N	0.99987	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.60890	-0.7173	10	0.16420	T	0.52	.	6.4291	0.21786	0.1214:0.3676:0.0:0.511	.	433;433	Q8IVC0;P05546	.;HEP2_HUMAN	V	433	ENSP00000215727:A433V;ENSP00000384050:A433V	ENSP00000215727:A433V	A	+	2	0	SERPIND1	19470426	0.000000	0.05858	0.215000	0.23724	0.850000	0.48378	-0.521000	0.06245	-0.082000	0.12640	0.591000	0.81541	GCC		0.567	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		60	70	0	0	0	0.870114	0	60	70				
NR3C2	4306	broad.mit.edu	37	4	149075708	149075708	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:149075708G>A	ENST00000358102.3	-	5	2721	c.2359C>T	c.(2359-2361)Ctt>Ttt	p.L787F	NR3C2_ENST00000355292.3_Missense_Mutation_p.L791F|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Missense_Mutation_p.L791F|NR3C2_ENST00000344721.4_Missense_Mutation_p.L787F|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	787	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTACCTGGAAGTACCTTTGCC	0.507																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2371-2373)Ctt>Ttt		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						156.0	161.0	159.0					4																	149075708		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075708G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2359C>T	4.37:g.149075708G>A	ENSP00000350815:p.Leu787Phe					NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.L791F|NR3C2_ENST00000344721.4_Missense_Mutation_p.L787F|NR3C2_ENST00000358102.3_Missense_Mutation_p.L787F|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA	p.L791F			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2733	-	all_hematologic(180;0.151)		787			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2371C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170898	0.78452	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.91	3.18	0.36537	.	0.124573	0.56097	D	0.000031	D	0.98074	0.9365	M	0.87038	2.855	0.48901	D	0.999729	D	0.59767	0.986	D	0.74674	0.984	D	0.97717	1.0194	9	.	.	.	.	15.1214	0.72447	0.0:0.0:0.4878:0.5122	.	787	B0ZBF6	.	F	787;791;787;791	ENSP00000341390:L787F;ENSP00000347441:L791F;ENSP00000350815:L787F;ENSP00000421481:L791F	.	L	-	1	0	NR3C2	149295158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.743000	0.62110	0.344000	0.23847	0.655000	0.94253	CTT		0.507	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	132	0	0	0	0.150653	0	4	132				
HIST1H2AC	8334	broad.mit.edu	37	6	26124633	26124633	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:26124633A>G	ENST00000602637.1	+	1	203	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.Y58C|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	58						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GTGTTAGAGTACCTGACCGCC	0.667																																						ENST00000602637.1																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(172-174)tAc>tGc		histone cluster 1, H2ac							53.0	54.0	53.0					6																	26124633		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124633A>G	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.173A>G	6.37:g.26124633A>G	ENSP00000473534:p.Tyr58Cys					HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.Y58C	p.Y58C			Q93077	H2A1C_HUMAN			1	203	+			58					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.173A>G	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.099502	0.76983	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.70516	-0.49;-0.49	5.78	5.78	0.91487	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.40469	N	0.001093	D	0.88955	0.6578	H	0.97940	4.11	0.48975	D	0.999732	D	0.89917	1.0	D	0.97110	1.0	D	0.92870	0.6313	10	0.87932	D	0	.	15.5859	0.76482	1.0:0.0:0.0:0.0	.	58	Q93077	H2A1C_HUMAN	C	58	ENSP00000367022:Y58C;ENSP00000321389:Y58C	ENSP00000321389:Y58C	Y	+	2	0	HIST1H2AC	26232612	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.985000	0.93487	2.333000	0.79357	0.482000	0.46254	TAC		0.667	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		11	29	0	0	0	0.500413	0	11	29				
GALNT15	117248	broad.mit.edu	37	3	16216674	16216674	+	Nonsense_Mutation	SNP	C	C	T	rs199640081	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:16216674C>T	ENST00000339732.5	+	1	519	c.16C>T	c.(16-18)Cga>Tga	p.R6*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.R6*	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	6					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTAAGGAAGCGATACAGGCA	0.542													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22096	0.0		0.0	False		,,,				2504	0.0					ENST00000339732.5																			0											c.(16-18)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							111.0	98.0	102.0					3																	16216674		2203	4300	6503	SO:0001587	stop_gained	117248							g.chr3:16216674C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.16C>T	3.37:g.16216674C>T	ENSP00000344260:p.Arg6*					GALNT15_ENST00000437509.1_Nonsense_Mutation_p.R6*	p.R6*	NM_054110.4	NP_473451.3					1	519	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Nonsense_Mutation	SNP	ENST00000339732.5	37	c.16C>T	CCDS33711.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	37	6.198112	0.97367	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	.	.	.	4.74	2.77	0.32553	.	0.359320	0.25735	N	0.028657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.404	0.26981	0.3048:0.5585:0.1367:0.0	.	.	.	.	X	6	.	ENSP00000344260:R6X	R	+	1	2	GALNTL2	16191678	0.978000	0.34361	0.878000	0.34440	0.012000	0.07955	0.787000	0.26858	1.125000	0.41998	-0.464000	0.05259	CGA		0.542	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		26	22	0	0	0	0.717897	0	26	22				
RBM6	10180	broad.mit.edu	37	3	50005783	50005783	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:50005783A>T	ENST00000266022.4	+	3	1184	c.925A>T	c.(925-927)Aat>Tat	p.N309Y	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.N177Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	309					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCTGGTATGAATGTGAACAG	0.408																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(529-531)Aat>Tat		RNA binding motif protein 6							67.0	65.0	66.0					3																	50005783		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005783A>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.925A>T	3.37:g.50005783A>T	ENSP00000266022:p.Asn309Tyr					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.N309Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	p.N177Y			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1448	+			309					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.529A>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694858	0.48202	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.32515	1.45;1.46	6.04	6.04	0.98038	.	0.786363	0.12308	N	0.480499	T	0.28928	0.0718	L	0.27053	0.805	0.80722	D	1	P	0.35033	0.481	B	0.39617	0.305	T	0.05835	-1.0861	9	.	.	.	-8.693	15.7575	0.78046	1.0:0.0:0.0:0.0	.	309	P78332	RBM6_HUMAN	Y	309;177	ENSP00000266022:N309Y;ENSP00000396466:N177Y	.	N	+	1	0	RBM6	49980787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.465000	0.53064	2.317000	0.78254	0.459000	0.35465	AAT		0.408	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		5	90	0	0	0	0.217242	0	5	90				
DOPEY2	9980	broad.mit.edu	37	21	37591690	37591690	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:37591690T>C	ENST00000399151.3	+	10	1235	c.1150T>C	c.(1150-1152)Ttg>Ctg	p.L384L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	384					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGTTGGGAATTTGTTTCTCGA	0.403																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1150-1152)Ttg>Ctg		dopey family member 2							196.0	182.0	187.0					21																	37591690		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37591690T>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1150T>C	21.37:g.37591690T>C							p.L384L	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			10	1235	+			384					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.1150T>C	CCDS13643.1																																																																																				0.403	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		174	318	0	0	0	0.870114	0	174	318				
WTAP	9589	broad.mit.edu	37	6	160164822	160164822	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:160164822A>G	ENST00000358372.4	+	5	2028	c.271A>G	c.(271-273)Act>Gct	p.T91A	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.T91A	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	91					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCAAGAGTGTACTGTAAGTAT	0.338																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(271-273)Act>Gct		Wilms tumor 1 associated protein							65.0	62.0	63.0					6																	160164822		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160164822A>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.271A>G	6.37:g.160164822A>G	ENSP00000351141:p.Thr91Ala					WTAP_ENST00000337387.4_Missense_Mutation_p.T91A|SOD2_ENST00000546087.1_Intron	p.T91A	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	5	2028	+		Breast(66;0.000776)|Ovarian(120;0.0303)	91					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.271A>G	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593139	0.46214	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.46819	0.86;0.86	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.20988	0.05;0.0	B;B	0.13407	0.009;0.001	T	0.07966	-1.0745	10	0.17832	T	0.49	0.2504	16.1251	0.81386	1.0:0.0:0.0:0.0	.	91;91	Q15007;Q5TCL9	FL2D_HUMAN;.	A	91	ENSP00000351141:T91A;ENSP00000336911:T91A	ENSP00000336911:T91A	T	+	1	0	WTAP	160084812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.511000	0.81718	2.267000	0.75376	0.477000	0.44152	ACT		0.338	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		22	49	0	0	0	0.654019	0	22	49				
MRPL32	64983	broad.mit.edu	37	7	42977150	42977150	+	Missense_Mutation	SNP	G	G	A	rs146917176		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:42977150G>A	ENST00000223324.2	+	3	729	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	181					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						GACAGAAAGCGACCATCCTGG	0.443																																						ENST00000223324.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(541-543)cGa>cAa		mitochondrial ribosomal protein L32		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	63.0	65.0		542	5.6	0.9	7	dbSNP_134	65	0,8600		0,0,4300	yes	missense	MRPL32	NM_031903.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	181/189	42977150	1,13005	2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42977150G>A	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.542G>A	7.37:g.42977150G>A	ENSP00000223324:p.Arg181Gln					MRPL32_ENST00000496564.1_Intron	p.R181Q	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN			3	729	+			181					Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.542G>A	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665839	0.96745	2.27E-4	0.0	ENSG00000106591	ENST00000223324	.	.	.	5.62	5.62	0.85841	.	0.099260	0.64402	D	0.000003	D	0.84311	0.5444	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85012	0.0906	9	0.51188	T	0.08	-15.3807	19.6758	0.95932	0.0:0.0:1.0:0.0	.	181	Q9BYC8	RM32_HUMAN	Q	181	.	ENSP00000223324:R181Q	R	+	2	0	MRPL32	42943675	1.000000	0.71417	0.930000	0.37139	0.987000	0.75469	7.274000	0.78538	2.644000	0.89710	0.561000	0.74099	CGA		0.443	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		31	43	0	0	0	0.760397	0	31	43				
PLEC	5339	broad.mit.edu	37	8	144992015	144992015	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:144992015G>A	ENST00000322810.4	-	32	12554	c.12385C>T	c.(12385-12387)Cgt>Tgt	p.R4129C	PLEC_ENST00000345136.3_Missense_Mutation_p.R3992C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3960C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3996C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3970C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3978C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4015C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3992C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4019C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4129	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATGCCCATACGCACAGCCTCC	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12385-12387)Cgt>Tgt		plectin							41.0	48.0	46.0					8																	144992015		2185	4268	6453	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992015G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12385C>T	8.37:g.144992015G>A	ENSP00000323856:p.Arg4129Cys					PLEC_ENST00000527096.1_Missense_Mutation_p.R4015C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4019C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3996C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3992C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3992C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3978C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3970C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3960C	p.R4129C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12554	-			4129			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12385C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	7.184	0.590188	0.13812	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.08	5.08	0.68730	.	0.099056	0.39475	U	0.001352	D	0.84955	0.5587	L	0.52011	1.625	0.58432	D	0.999993	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.67231	0.917;0.917;0.917;0.95;0.917;0.917;0.917;0.917	D	0.86268	0.1659	10	0.87932	D	0	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	4019;3978;3970;4129;3960;3992;3996;3992	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3992;3996;3992;3960;4129;3970;3978;4019;4015	ENSP00000344848:R3992C;ENSP00000350277:R3996C;ENSP00000346602:R3992C;ENSP00000381756:R3960C;ENSP00000323856:R4129C;ENSP00000347044:R3970C;ENSP00000348702:R3978C;ENSP00000388180:R4019C;ENSP00000434583:R4015C	ENSP00000323856:R4129C	R	-	1	0	PLEC	145064003	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	4.915000	0.63355	2.654000	0.90174	0.549000	0.68633	CGT		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	31	0	0	0	0.520397	0	15	31				
UBAP2L	9898	broad.mit.edu	37	1	154227752	154227752	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154227752C>T	ENST00000361546.2	+	16	2076	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	UBAP2L_ENST00000271877.7_Silent_p.G689G|UBAP2L_ENST00000428931.1_Silent_p.G678G|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000343815.6_Silent_p.G678G			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	678					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTTGGGTGGCTTGAGCCACA	0.493																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(2032-2034)ggC>ggT		ubiquitin associated protein 2-like							170.0	150.0	157.0					1																	154227752		2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227752C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2034C>T	1.37:g.154227752C>T						UBAP2L_ENST00000271877.7_Silent_p.G689G|UBAP2L_ENST00000361546.2_Silent_p.G678G|UBAP2L_ENST00000343815.6_Silent_p.G678G	p.G678G	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		17	2201	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		678					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.2034C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339929	0.24339	.	.	ENSG00000143569	ENST00000433615	.	.	.	5.72	3.79	0.43588	.	.	.	.	.	T	0.48786	0.1519	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48658	-0.9016	4	.	.	.	-6.5778	10.8807	0.46937	0.0:0.7987:0.1296:0.0717	.	.	.	.	F	9	.	.	L	+	1	0	UBAP2L	152494376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.492000	0.35594	1.367000	0.46095	0.655000	0.94253	CTT		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		40	191	0	0	0	0.840704	0	40	191				
RBM12B	389677	broad.mit.edu	37	8	94745931	94745931	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:94745931A>G	ENST00000399300.2	-	3	2921	c.2708T>C	c.(2707-2709)aTg>aCg	p.M903T	RBM12B_ENST00000517700.1_Missense_Mutation_p.M783T|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	903							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAAACTTCCCATATTATGCTT	0.398																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2707-2709)aTg>aCg		RNA binding motif protein 12B							142.0	146.0	144.0					8																	94745931		1808	4074	5882	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94745931A>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2708T>C	8.37:g.94745931A>G	ENSP00000382239:p.Met903Thr					RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.M783T	p.M903T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2921	-	Breast(36;4.14e-07)		903					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2708T>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191576	0.38707	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07800	3.16;3.19	5.95	4.8	0.61643	.	1.084570	0.07059	N	0.833438	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	0.999997	B	0.17667	0.023	B	0.14023	0.01	T	0.28839	-1.0031	10	0.21014	T	0.42	0.7342	10.7674	0.46301	0.9265:0.0:0.0734:0.0	.	903	Q8IXT5	RB12B_HUMAN	T	903;783	ENSP00000382239:M903T;ENSP00000427729:M783T	ENSP00000382239:M903T	M	-	2	0	RBM12B	94815107	1.000000	0.71417	0.959000	0.39883	0.915000	0.54546	3.545000	0.53648	2.272000	0.75746	0.460000	0.39030	ATG		0.398	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		161	272	0	0	0	0.870114	0	161	272				
RPTOR	57521	broad.mit.edu	37	17	78704364	78704364	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:78704364A>C	ENST00000306801.3	+	5	874	c.512A>C	c.(511-513)tAc>tCc	p.Y171S	RPTOR_ENST00000544334.2_Missense_Mutation_p.Y171S|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.Y171S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	171					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTCTAGAACTACACGCAGTAC	0.512																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(511-513)tAc>tCc		regulatory associated protein of MTOR, complex 1							158.0	106.0	124.0					17																	78704364		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78704364A>C		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.512A>C	17.37:g.78704364A>C	ENSP00000307272:p.Tyr171Ser					RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.Y171S|RPTOR_ENST00000570891.1_Missense_Mutation_p.Y171S	p.Y171S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			5	874	+			171					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.512A>C	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998183	0.74818	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.51817	0.69;0.71	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.71031	0.3292	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.71414	0.972;0.973	T	0.76887	-0.2793	10	0.59425	D	0.04	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	171;171	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	171	ENSP00000307272:Y171S;ENSP00000442479:Y171S	ENSP00000307272:Y171S	Y	+	2	0	RPTOR	76318959	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.026000	0.76455	1.925000	0.55765	0.460000	0.39030	TAC		0.512	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		35	82	0	0	0	0.796494	0	35	82				
RAB1A	5861	broad.mit.edu	37	2	65316203	65316203	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:65316203T>C	ENST00000409784.3	-	5	480	c.290A>G	c.(289-291)gAg>gGg	p.E97G	RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000356214.7_Splice_Site_p.E65G|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000409751.1_Splice_Site_p.E65G|RAB1A_ENST00000409892.1_Splice_Site_p.E33G	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	97					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						ATTGAAGGACTCCTAAAAAGA	0.353																																						ENST00000409784.3																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						c.e5-1		RAB1A, member RAS oncogene family							47.0	41.0	43.0					2																	65316203		1840	4092	5932	SO:0001630	splice_region_variant	5861				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity	g.chr2:65316203T>C	M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"""RAB, member RAS oncogene"""	9758	protein-coding gene	gene with protein product	"""Rab GTPase YPT1 homolog (yeast)"""	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.289-1A>G	2.37:g.65316203T>C						RAB1A_ENST00000409751.1_Splice_Site_p.E65_splice|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000409892.1_Splice_Site_p.E33_splice|RAB1A_ENST00000356214.7_Splice_Site_p.E65_splice	p.E97_splice	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN			5	480	-			97					P11476|Q6FIE7|Q96N61|Q9Y3T2	Splice_Site	SNP	ENST00000409784.3	37	c.288_splice	CCDS46306.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941289	0.92526	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000356214	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.5	5.5	0.81552	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.62016	1.91	0.80722	D	1	B;P;B	0.51933	0.015;0.949;0.047	B;P;B	0.58331	0.114;0.837;0.057	D	0.87893	0.2685	10	0.72032	D	0.01	.	15.5997	0.76613	0.0:0.0:0.0:1.0	.	65;33;97	B7Z8M7;P62820-2;P62820	.;.;RAB1A_HUMAN	G	97;33;65;65	ENSP00000387286:E97G;ENSP00000386451:E33G;ENSP00000386672:E65G;ENSP00000348546:E65G	ENSP00000348546:E65G	E	-	2	0	RAB1A	65169707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.072000	0.62099	0.454000	0.30748	GAG		0.353	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327572.1	NM_004161	Missense_Mutation	8	33	0	0	0	0.335167	0	8	33				
AP1G1	164	broad.mit.edu	37	16	71767002	71767002	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:71767002G>T	ENST00000299980.4	-	23	2869	c.2428C>A	c.(2428-2430)Cta>Ata	p.L810I	AP1G1_ENST00000433195.2_Missense_Mutation_p.L833I|AP1G1_ENST00000393512.3_Missense_Mutation_p.L813I|AP1G1_ENST00000569748.1_Missense_Mutation_p.L810I|AP1G1_ENST00000423132.2_Missense_Mutation_p.L813I|AP1G1_ENST00000564155.1_Missense_Mutation_p.L235I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	810	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCTCTGCTAGATCTTGCATT	0.438																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(2428-2430)Cta>Ata		adaptor-related protein complex 1, gamma 1 subunit							174.0	159.0	164.0					16																	71767002		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71767002G>T	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2428C>A	16.37:g.71767002G>T	ENSP00000299980:p.Leu810Ile					AP1G1_ENST00000569748.1_Missense_Mutation_p.L810I|AP1G1_ENST00000564155.1_Missense_Mutation_p.L235I|AP1G1_ENST00000423132.2_Missense_Mutation_p.L813I|AP1G1_ENST00000393512.3_Missense_Mutation_p.L813I|AP1G1_ENST00000433195.2_Missense_Mutation_p.L833I	p.L810I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			23	2869	-		Ovarian(137;0.125)	810			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.2428C>A	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310376	0.10733	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.94	1.76	0.24704	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	N	0.10916	0.065	0.54753	D	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.009;0.005;0.003	T	0.04427	-1.0952	10	0.15499	T	0.54	-7.1708	7.0389	0.25008	0.1962:0.0:0.6803:0.1235	.	810;833;813	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	I	810;813;813;833;336	ENSP00000299980:L810I;ENSP00000377148:L813I;ENSP00000409153:L813I;ENSP00000403259:L833I	ENSP00000299980:L810I	L	-	1	2	AP1G1	70324503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	0.391000	0.25143	0.650000	0.86243	CTA		0.438	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			32	65	1	0	6.19805e-25	0.812448	6.8057e-25	32	65				
NIPAL2	79815	broad.mit.edu	37	8	99217418	99217418	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:99217418T>C	ENST00000341166.3	-	7	967	c.712A>G	c.(712-714)Atg>Gtg	p.M238V	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.M238V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	238						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						ATTTTATCCATCACAGAAAAA	0.333																																						ENST00000341166.3																			0				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						c.(712-714)Atg>Gtg		NIPA-like domain containing 2							106.0	101.0	103.0					8																	99217418		2203	4300	6503	SO:0001583	missense	79815					integral to membrane		g.chr8:99217418T>C	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.712A>G	8.37:g.99217418T>C	ENSP00000339256:p.Met238Val					NIPAL2_ENST00000430223.2_Missense_Mutation_p.M238V|NIPAL2_ENST00000520545.1_5'UTR	p.M238V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN			7	967	-			238					A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	c.712A>G	CCDS6278.1	.	.	.	.	.	.	.	.	.	.	T	2.070	-0.413298	0.04799	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.89681	-2.55;-2.55	4.56	4.56	0.56223	.	0.517985	0.19914	N	0.103223	T	0.77671	0.4165	N	0.14661	0.345	0.20074	N	0.999936	B;B	0.12630	0.003;0.006	B;B	0.14023	0.002;0.01	T	0.63853	-0.6543	10	0.29301	T	0.29	0.1467	8.0905	0.30797	0.0:0.0933:0.0:0.9067	.	238;238	A2RTY8;Q9H841	.;NPAL2_HUMAN	V	238	ENSP00000407087:M238V;ENSP00000339256:M238V	ENSP00000339256:M238V	M	-	1	0	NIPAL2	99286594	0.996000	0.38824	0.923000	0.36655	0.737000	0.42083	3.846000	0.55888	1.673000	0.50895	0.379000	0.24179	ATG		0.333	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		34	62	0	0	0	0.760397	0	34	62				
CASS4	57091	broad.mit.edu	37	20	55027381	55027381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:55027381G>A	ENST00000360314.3	+	6	1374	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	CASS4_ENST00000371336.3_Nonsense_Mutation_p.W383*|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	383	Ser-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATTCCTCATGGTTCTCCAGAC	0.522																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1147-1149)tgG>tgA		Cas scaffolding protein family member 4							55.0	43.0	47.0					20																	55027381		2203	4300	6503	SO:0001587	stop_gained	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027381G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1149G>A	20.37:g.55027381G>A	ENSP00000353462:p.Trp383*					CASS4_ENST00000360314.3_Nonsense_Mutation_p.W383*|CASS4_ENST00000434344.1_Intron	p.W383*	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1350	+			383			Ser-rich.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Nonsense_Mutation	SNP	ENST00000360314.3	37	c.1149G>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200657	0.94997	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	.	.	.	5.5	2.37	0.29283	.	1.988560	0.01921	N	0.040531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-0.093	12.3627	0.55213	0.0:0.2409:0.6339:0.1252	.	.	.	.	X	383	.	ENSP00000353462:W383X	W	+	3	0	CASS4	54460788	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	0.768000	0.26590	0.322000	0.23283	-0.175000	0.13238	TGG		0.522	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		22	48	0	0	0	0.706142	0	22	48				
NR6A1	2649	broad.mit.edu	37	9	127298227	127298227	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:127298227T>C	ENST00000487099.2	-	7	1166	c.1009A>G	c.(1009-1011)Agc>Ggc	p.S337G	NR6A1_ENST00000416460.2_Missense_Mutation_p.S332G|NR6A1_ENST00000344523.4_Missense_Mutation_p.S336G|NR6A1_ENST00000373584.3_Missense_Mutation_p.S333G	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	337					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATCTGCTTGCTGTAAACGGTG	0.532																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(1009-1011)Agc>Ggc		nuclear receptor subfamily 6, group A, member 1							153.0	128.0	136.0					9																	127298227		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127298227T>C	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1009A>G	9.37:g.127298227T>C	ENSP00000420267:p.Ser337Gly					NR6A1_ENST00000344523.4_Missense_Mutation_p.S336G|NR6A1_ENST00000373584.3_Missense_Mutation_p.S333G|NR6A1_ENST00000416460.2_Missense_Mutation_p.S332G	p.S337G	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			7	1166	-			337					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.1009A>G	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021122	0.54576	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.03	5.03	0.67393	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.037866	0.85682	D	0.000000	D	0.92116	0.7501	N	0.17631	0.505	0.54753	D	0.999989	B;B;B	0.33171	0.27;0.257;0.4	B;B;B	0.36030	0.136;0.216;0.173	D	0.90674	0.4600	10	0.23302	T	0.38	.	14.6453	0.68756	0.0:0.0:0.0:1.0	.	333;337;332	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	G	337;333;332;336	ENSP00000420267:S337G;ENSP00000362686:S333G;ENSP00000413701:S332G;ENSP00000341135:S336G	ENSP00000341135:S336G	S	-	1	0	NR6A1	126338048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.185000	0.69588	0.460000	0.39030	AGC		0.532	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			13	114	0	0	0	0.457914	0	13	114				
ATP1B4	23439	broad.mit.edu	37	X	119509328	119509328	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:119509328T>G	ENST00000218008.3	+	5	721	c.664T>G	c.(664-666)Ttt>Gtt	p.F222V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.F179V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F218V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	222					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GGCCTGCCAATTTAAGCGCTC	0.468																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(664-666)Ttt>Gtt		ATPase, Na+/K+ transporting, beta 4 polypeptide							161.0	141.0	148.0					X																	119509328		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509328T>G	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.664T>G	X.37:g.119509328T>G	ENSP00000218008:p.Phe222Val					ATP1B4_ENST00000539306.1_Missense_Mutation_p.F179V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F218V	p.F222V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			5	721	+			222					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.664T>G	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552913	0.45487	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.53206	0.63;0.63;0.63	5.36	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.987;0.999;0.998	T	0.61792	-0.6990	10	0.38643	T	0.18	-17.6901	10.8825	0.46946	0.0:0.0:0.1558:0.8442	.	179;187;222;218	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	V	222;218;179	ENSP00000218008:F222V;ENSP00000355346:F218V;ENSP00000443334:F179V	ENSP00000218008:F222V	F	+	1	0	ATP1B4	119393356	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	7.634000	0.83273	0.672000	0.31204	-0.513000	0.04457	TTT		0.468	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		118	100	0	0	0	0.870114	0	118	100				
CDK12	51755	broad.mit.edu	37	17	37619372	37619372	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:37619372T>C	ENST00000447079.4	+	1	1079		c.e1+2		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTCCCCAGGTGAGCTATTTG	0.552			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.e1+2		cyclin-dependent kinase 12							56.0	54.0	55.0					17																	37619372		2203	4300	6503	SO:0001630	splice_region_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619372T>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1046+2T>C	17.37:g.37619372T>C		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Splice_Site		NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	1079	+								A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37		CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791478	0.70452	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34872898	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.901000	0.75693	2.016000	0.59253	0.533000	0.62120	.		0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron	26	60	0	0	0	0.681144	0	26	60				
KMT2C	58508	broad.mit.edu	37	7	151859636	151859636	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:151859636G>C	ENST00000262189.6	-	43	11244	c.11026C>G	c.(11026-11028)Cta>Gta	p.L3676V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L3676V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3676					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTGTACATAGCTGGCCTGCT	0.488																																						ENST00000355193.2																			0											c.(11026-11028)Cta>Gta		lysine (K)-specific methyltransferase 2C							133.0	138.0	137.0					7																	151859636		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151859636G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11026C>G	7.37:g.151859636G>C	ENSP00000262189:p.Leu3676Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.L3676V	p.L3676V							43	11244	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11026C>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.219|7.219	0.596937|0.596937	0.13875|0.13875	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.88431	.|-1.66;-1.66;-2.38	5.39|5.39	3.55|3.55	0.40652|0.40652	.|.	.|1.188320	.|0.06586	.|U	.|0.751157	D|D	0.83436|0.83436	0.5254|0.5254	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999991|0.999991	.|B;B;B	.|0.22211	.|0.049;0.066;0.013	.|B;B;B	.|0.24006	.|0.016;0.05;0.025	T|T	0.69165|0.69165	-0.5217|-0.5217	5|10	.|0.33141	.|T	.|0.24	.|.	6.9503|6.9503	0.24542|0.24542	0.1686:0.1562:0.6752:0.0|0.1686:0.1562:0.6752:0.0	.|.	.|3676;2737;3676	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	G|V	1181|3676;3676;262	.|ENSP00000262189:L3676V;ENSP00000347325:L3676V;ENSP00000410411:L262V	.|ENSP00000262189:L3676V	A|L	-|-	2|1	0|2	MLL3|MLL3	151490569|151490569	0.051000|0.051000	0.20477|0.20477	0.034000|0.034000	0.17996|0.17996	0.031000|0.031000	0.12232|0.12232	0.477000|0.477000	0.22196|0.22196	2.521000|2.521000	0.84997|0.84997	0.557000|0.557000	0.71058|0.71058	GCT|CTA		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			94	139	0	0	0	0.870114	0	94	139				
ENOSF1	55556	broad.mit.edu	37	18	697349	697349	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:697349C>T	ENST00000251101.7	-	3	288	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.C67Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.C88Y	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	67					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATTCACAGCACAGACAACTAT	0.418																																						ENST00000251101.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(199-201)tGt>tAt		enolase superfamily member 1							151.0	153.0	152.0					18																	697349		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:697349C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.200G>A	18.37:g.697349C>T	ENSP00000251101:p.Cys67Tyr					ENOSF1_ENST00000539164.1_Missense_Mutation_p.C67Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.C88Y|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron	p.C67Y	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN			3	288	-			67					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.200G>A	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550026	0.45383	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.41065	1.01;1.01;1.01	5.49	5.49	0.81192	Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	N	0.19112	0.55	0.49915	D	0.999838	B;B;B	0.26935	0.164;0.164;0.064	B;B;B	0.19148	0.024;0.024;0.014	T	0.11941	-1.0567	10	0.66056	D	0.02	-7.4166	18.2036	0.89847	0.0:1.0:0.0:0.0	.	88;112;67	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	Y	67;88;67	ENSP00000251101:C67Y;ENSP00000345974:C88Y;ENSP00000446321:C67Y	ENSP00000251101:C67Y	C	-	2	0	ENOSF1	687349	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.185000	0.72013	2.599000	0.87857	0.650000	0.86243	TGT		0.418	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		123	187	0	0	0	0.870114	0	123	187				
CYFIP1	23191	broad.mit.edu	37	15	22955133	22955133	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:22955133T>C	ENST00000313077.7	+	15	1652	c.1527T>C	c.(1525-1527)agT>agC	p.S509S	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_Splice_Site_p.S509S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGGTGTTCAGTGTCCTGCAGG	0.602																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.e15-1		cytoplasmic FMR1 interacting protein 1							76.0	72.0	73.0					15																	22955133		2203	4300	6503	SO:0001630	splice_region_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22955133T>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1527-1T>C	15.37:g.22955133T>C						CYFIP1_ENST00000560848.1_Splice_Site_p.S509_splice	p.S509_splice	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	15	1652	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	509						Splice_Site	SNP	ENST00000313077.7	37	c.1526_splice	CCDS10009.1																																																																																				0.602	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	Silent	10	88	0	0	0	0.335167	0	10	88				
MYH7B	57644	broad.mit.edu	37	20	33565798	33565798	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33565798G>A	ENST00000262873.7	+	3	208	c.116G>A	c.(115-117)aGt>aAt	p.S39N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	0						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S39N(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTTCACCCCAGTGCCACTGCC	0.602																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.S39N(1)	large_intestine(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(115-117)aGt>aAt		myosin, heavy chain 7B, cardiac muscle, beta							108.0	117.0	114.0					20																	33565798		2163	4271	6434	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33565798G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.116G>A	20.37:g.33565798G>A	ENSP00000262873:p.Ser39Asn						p.S39N	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		3	208	+			0					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.116G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582831	0.46006	.	.	ENSG00000078814	ENST00000262873	D	0.86230	-2.09	3.97	-2.87	0.05700	.	.	.	.	.	T	0.78886	0.4354	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.67039	-0.5771	6	0.33940	T	0.23	.	4.5737	0.12223	0.0803:0.3404:0.3699:0.2094	.	.	.	.	N	39	ENSP00000262873:S39N	ENSP00000262873:S39N	S	+	2	0	MYH7B	33029459	0.000000	0.05858	0.036000	0.18154	0.519000	0.34347	0.216000	0.17585	-0.285000	0.09089	-0.165000	0.13383	AGT		0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		6	197	0	0	0	0.278610	0	6	197				
MAP3K3	4215	broad.mit.edu	37	17	61766161	61766161	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:61766161A>G	ENST00000361733.3	+	10	1111	c.791A>G	c.(790-792)cAg>cGg	p.Q264R	MAP3K3_ENST00000577395.1_Missense_Mutation_p.Q260R|MAP3K3_ENST00000584573.1_Missense_Mutation_p.Q291R|MAP3K3_ENST00000579585.1_Missense_Mutation_p.Q295R|MAP3K3_ENST00000361357.3_Missense_Mutation_p.Q295R|MAP3K3_ENST00000577784.1_3'UTR	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	264					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGAAACTCAGCTTTATGAC	0.537																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(883-885)cAg>cGg		mitogen-activated protein kinase kinase kinase 3							105.0	89.0	94.0					17																	61766161		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61766161A>G	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.791A>G	17.37:g.61766161A>G	ENSP00000354485:p.Gln264Arg					MAP3K3_ENST00000584573.1_Missense_Mutation_p.Q291R|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000579585.1_Missense_Mutation_p.Q295R|MAP3K3_ENST00000577395.1_Missense_Mutation_p.Q260R|MAP3K3_ENST00000361733.3_Missense_Mutation_p.Q264R	p.Q295R	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			11	1202	+			264					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.884A>G	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.587747	0.28268	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.45276	0.9;0.9	5.66	4.57	0.56435	.	0.296345	0.38605	N	0.001637	T	0.35098	0.0920	L	0.36672	1.1	0.47276	D	0.999372	B;B;B;B	0.22746	0.001;0.001;0.074;0.0	B;B;B;B	0.28465	0.003;0.002;0.09;0.003	T	0.07385	-1.0775	10	0.29301	T	0.29	.	12.9133	0.58192	0.8642:0.1358:0.0:0.0	.	260;232;264;295	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	R	295;264	ENSP00000354927:Q295R;ENSP00000354485:Q264R	ENSP00000354927:Q295R	Q	+	2	0	MAP3K3	59119893	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.043000	0.64208	0.965000	0.38133	0.459000	0.35465	CAG		0.537	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		53	110	0	0	0	0.870114	0	53	110				
DNAJB2	3300	broad.mit.edu	37	2	220149689	220149689	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:220149689T>C	ENST00000336576.5	+	9	1243	c.955T>C	c.(955-957)Tct>Cct	p.S319P	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	319					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGAAGGCCTCTCGCTGCCT	0.617																																						ENST00000336576.5																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(955-957)Tct>Cct		DnaJ (Hsp40) homolog, subfamily B, member 2							20.0	21.0	21.0					2																	220149689		2189	4269	6458	SO:0001583	missense	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220149689T>C		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.955T>C	2.37:g.220149689T>C	ENSP00000338019:p.Ser319Pro					DNAJB2_ENST00000392086.4_Intron	p.S319P	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1243	+		Renal(207;0.0474)	319					A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	c.955T>C	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598056	0.46318	.	.	ENSG00000135924	ENST00000336576	T	0.62364	0.03	4.32	1.81	0.25067	.	.	.	.	.	T	0.42108	0.1188	L	0.27053	0.805	0.80722	D	1	B	0.32693	0.38	B	0.28709	0.093	T	0.23868	-1.0176	9	0.66056	D	0.02	.	4.9021	0.13781	0.3063:0.0:0.3157:0.3781	.	319	P25686	DNJB2_HUMAN	P	319	ENSP00000338019:S319P	ENSP00000338019:S319P	S	+	1	0	DNAJB2	219857933	0.941000	0.31946	0.999000	0.59377	0.986000	0.74619	0.468000	0.22051	0.179000	0.19938	0.379000	0.24179	TCT		0.617	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			7	9	0	0	0	0.335167	0	7	9				
FOXO3	2309	broad.mit.edu	37	6	108985226	108985226	+	Missense_Mutation	SNP	C	C	T	rs202151097		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:108985226C>T	ENST00000343882.6	+	3	1494	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	FOXO3_ENST00000406360.1_Missense_Mutation_p.P397L|FOXO3_ENST00000540898.1_Missense_Mutation_p.P177L	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	397					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATCACGCTCCCGCCATCCCAG	0.592																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1189-1191)cCg>cTg		forkhead box O3							39.0	41.0	40.0					6																	108985226		2203	4298	6501	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985226C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1190C>T	6.37:g.108985226C>T	ENSP00000339527:p.Pro397Leu					FOXO3_ENST00000343882.6_Missense_Mutation_p.P397L|FOXO3_ENST00000540898.1_Missense_Mutation_p.P177L	p.P397L	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1533	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	397					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1190C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829099	0.16749	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.94897	-3.55;-3.55;-3.55	5.81	4.93	0.64822	.	0.151986	0.64402	D	0.000016	D	0.82788	0.5113	N	0.20530	0.585	0.48696	D	0.999698	B	0.24043	0.096	B	0.14578	0.011	T	0.79142	-0.1925	10	0.19590	T	0.45	-16.6868	16.0741	0.80958	0.1352:0.8648:0.0:0.0	.	397	O43524	FOXO3_HUMAN	L	397;397;177;177	ENSP00000339527:P397L;ENSP00000385824:P397L;ENSP00000446316:P177L	ENSP00000339527:P397L	P	+	2	0	FOXO3	109091919	0.935000	0.31712	0.881000	0.34555	0.796000	0.44982	3.246000	0.51414	1.418000	0.47098	0.462000	0.41574	CCG		0.592	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			31	54	0	0	0	0.769981	0	31	54				
ZNF217	7764	broad.mit.edu	37	20	52193033	52193033	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:52193033G>A	ENST00000371471.2	-	4	2695	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	ZNF217_ENST00000302342.3_Missense_Mutation_p.P757L|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	757					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAACGCTGGCGGGCATCCGGT	0.502																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2269-2271)cCg>cTg		zinc finger protein 217							68.0	68.0	68.0					20																	52193033		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193033G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2270C>T	20.37:g.52193033G>A	ENSP00000360526:p.Pro757Leu					ZNF217_ENST00000302342.3_Missense_Mutation_p.P757L	p.P757L			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2695	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		757					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.2270C>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666483	0.67814	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.77750	-1.12;-1.12	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	D	0.88720	0.6513	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89747	0.3937	10	0.87932	D	0	-27.5199	18.8963	0.92424	0.0:0.0:1.0:0.0	.	757	O75362	ZN217_HUMAN	L	757	ENSP00000360526:P757L;ENSP00000304308:P757L	ENSP00000304308:P757L	P	-	2	0	ZNF217	51626440	1.000000	0.71417	0.949000	0.38748	0.041000	0.13682	9.006000	0.93592	2.553000	0.86117	0.555000	0.69702	CCG		0.502	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		39	54	0	0	0	0.853193	0	39	54				
TBL3	10607	broad.mit.edu	37	16	2026055	2026055	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:2026055A>G	ENST00000568546.1	+	12	1257		c.e12-1			NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3						G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACAACATCTCAGATATCGTCC	0.642																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.e12-1		transducin (beta)-like 3							135.0	131.0	133.0					16																	2026055		2198	4300	6498	SO:0001630	splice_region_variant	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2026055A>G	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1130-1A>G	16.37:g.2026055A>G								NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			12	1257	+								Q59GD6|Q8IVB7|Q96A78	Splice_Site	SNP	ENST00000568546.1	37		CCDS10453.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378619	0.42207	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBL3	1966056	1.000000	0.71417	0.319000	0.25293	0.215000	0.24574	7.091000	0.76923	1.786000	0.52430	0.459000	0.35465	.		0.642	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453	Intron	10	207	0	0	0	0.335167	0	10	207				
DPAGT1	1798	broad.mit.edu	37	11	118971120	118971120	+	Splice_Site	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:118971120T>G	ENST00000409993.2	-	6	2048		c.e6-2		DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000354202.4_Splice_Site|DPAGT1_ENST00000432443.2_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ACAGGATTCCTGCGGGGAGAG	0.493											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.e6-2		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							69.0	69.0	69.0					11																	118971120		2200	4295	6495	SO:0001630	splice_region_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971120T>G	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.497-2A>C	11.37:g.118971120T>G			OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000354202.4_Splice_Site|DPAGT1_ENST00000432443.2_Splice_Site				Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	6	2048	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)						O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713212	0.48517	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0511	0.71872	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPAGT1	118476330	1.000000	0.71417	0.960000	0.40013	0.689000	0.40095	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	.		0.493	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	Intron	50	87	0	0	0	0.870114	0	50	87				
SIPA1L2	57568	broad.mit.edu	37	1	232650521	232650521	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:232650521G>A	ENST00000366630.1	-	2	923	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H189Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	189					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTCCCTGTGCAGGGCAGCC	0.463																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(565-567)Cac>Tac		signal-induced proliferation-associated 1 like 2							121.0	118.0	119.0					1																	232650521		1929	4134	6063	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650521G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.565C>T	1.37:g.232650521G>A	ENSP00000355589:p.His189Tyr					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H189Y	p.H189Y			Q9P2F8	SI1L2_HUMAN			2	923	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	189					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.565C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070094	0.76301	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.44881	0.91;0.91	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.68593	2.085	0.58432	D	0.999999	D	0.54964	0.969	P	0.62382	0.901	T	0.63088	-0.6715	10	0.56958	D	0.05	-29.7701	18.9136	0.92496	0.0:0.0:1.0:0.0	.	189	Q9P2F8	SI1L2_HUMAN	Y	189	ENSP00000355589:H189Y;ENSP00000262861:H189Y	ENSP00000262861:H189Y	H	-	1	0	SIPA1L2	230717144	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.657000	0.98554	2.708000	0.92522	0.650000	0.86243	CAC		0.463	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		92	173	0	0	0	0.870114	0	92	173				
KNTC1	9735	broad.mit.edu	37	12	123087702	123087702	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:123087702G>A	ENST00000333479.7	+	48	5190	c.5013G>A	c.(5011-5013)acG>acA	p.T1671T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.T96T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1671					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTAAGATCACGCAGACCATCG	0.433																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5011-5013)acG>acA		kinetochore associated 1							60.0	57.0	58.0					12																	123087702		1889	4105	5994	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087702G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5013G>A	12.37:g.123087702G>A						KNTC1_ENST00000537348.1_Silent_p.T96T|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron	p.T1671T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	48	5190	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1671					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.5013G>A	CCDS45002.1																																																																																				0.433	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			4	34	0	0	0	0.184627	0	4	34				
PRPF8	10594	broad.mit.edu	37	17	1557299	1557299	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:1557299G>A	ENST00000572621.1	-	37	6264	c.5999C>T	c.(5998-6000)gCa>gTa	p.A2000V	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.A2000V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2000	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCAGTGATGCCACGTTCAC	0.522																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5998-6000)gCa>gTa		pre-mRNA processing factor 8							267.0	232.0	244.0					17																	1557299		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1557299G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5999C>T	17.37:g.1557299G>A	ENSP00000460348:p.Ala2000Val					PRPF8_ENST00000304992.6_Missense_Mutation_p.A2000V	p.A2000V			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	37	6264	-			2000			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5999C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133377	0.56828	.	.	ENSG00000174231	ENST00000304992	T	0.80566	-1.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.86805	2.84	0.80722	D	1	B	0.24426	0.103	B	0.22601	0.04	T	0.82024	-0.0662	10	0.72032	D	0.01	-11.1941	19.8676	0.96824	0.0:0.0:1.0:0.0	.	2000	Q6P2Q9	PRP8_HUMAN	V	2000	ENSP00000304350:A2000V	ENSP00000304350:A2000V	A	-	2	0	PRPF8	1504049	1.000000	0.71417	0.994000	0.49952	0.170000	0.22686	9.586000	0.98226	2.941000	0.99782	0.655000	0.94253	GCA		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			86	218	0	0	0	0.870114	0	86	218				
ZNF318	24149	broad.mit.edu	37	6	43306339	43306339	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:43306339G>C	ENST00000361428.2	-	10	5474	c.5397C>G	c.(5395-5397)acC>acG	p.T1799T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1799					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTCCAATGCTGGTACTTACTC	0.418																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5395-5397)acC>acG		zinc finger protein 318							133.0	115.0	121.0					6																	43306339		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306339G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5397C>G	6.37:g.43306339G>C						ZNF318_ENST00000318149.3_Intron	p.T1799T	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5474	-			1799					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.5397C>G	CCDS4895.2																																																																																				0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		45	97	0	0	0	0.864702	0	45	97				
FAM78B	149297	broad.mit.edu	37	1	166135352	166135352	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:166135352T>A	ENST00000338353.3	-	2	723	c.134A>T	c.(133-135)aAg>aTg	p.K45M	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.K45M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	45										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTAGGGGGTCTTGTAGCGCAG	0.652																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(133-135)aAg>aTg		family with sequence similarity 78, member B							87.0	64.0	72.0					1																	166135352		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166135352T>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.134A>T	1.37:g.166135352T>A	ENSP00000339681:p.Lys45Met					FAM78B_ENST00000354422.3_Missense_Mutation_p.K45M	p.K45M			Q5VT40	FA78B_HUMAN			2	723	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		45					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.134A>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736187	0.69189	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.113431	0.53938	D	0.000046	T	0.43033	0.1229	L	0.50333	1.59	0.44447	D	0.997374	P	0.46142	0.873	P	0.49140	0.601	T	0.53222	-0.8469	8	0.87932	D	0	-4.9026	11.4309	0.50041	0.0:0.0:0.0:1.0	.	45	Q5VT40	FA78B_HUMAN	M	45	.	ENSP00000339681:K45M	K	-	2	0	FAM78B	164401976	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.464000	0.66719	1.789000	0.52484	0.383000	0.25322	AAG		0.652	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		12	6	0	0	0	0.387290	0	12	6				
MYH14	79784	broad.mit.edu	37	19	50774688	50774688	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50774688C>T	ENST00000596571.1	+	22	2933	c.2933C>T	c.(2932-2934)gCt>gTt	p.A978V	MYH14_ENST00000425460.1_Missense_Mutation_p.A986V|MYH14_ENST00000601313.1_Missense_Mutation_p.A1019V|MYH14_ENST00000440075.2_Missense_Mutation_p.A1019V|MYH14_ENST00000376970.2_Missense_Mutation_p.A1011V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1019V|MYH14_ENST00000598205.1_Missense_Mutation_p.A986V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	978					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACCTTGAGGCTGAGGAGGGT	0.572																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3055-3057)gCt>gTt		myosin, heavy chain 14, non-muscle							24.0	27.0	26.0					19																	50774688		2182	4293	6475	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50774688C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2933C>T	19.37:g.50774688C>T	ENSP00000472819:p.Ala978Val					MYH14_ENST00000376970.2_Missense_Mutation_p.A1011V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1019V|MYH14_ENST00000425460.1_Missense_Mutation_p.A986V|MYH14_ENST00000598205.1_Missense_Mutation_p.A986V|MYH14_ENST00000596571.1_Missense_Mutation_p.A978V|MYH14_ENST00000601313.1_Missense_Mutation_p.A1019V	p.A1019V			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	25	3103	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	978					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.3056C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528412	0.27299	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.52	3.52	0.40303	.	.	.	.	.	T	0.68403	0.2997	N	0.14661	0.345	0.35356	D	0.787835	B;B;B	0.25312	0.123;0.028;0.047	B;B;B	0.22880	0.042;0.011;0.024	T	0.73193	-0.4060	9	0.87932	D	0	.	8.4039	0.32603	0.2336:0.7664:0.0:0.0	.	1019;978;986	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	978;1019;1011;986;978;1019	ENSP00000406273:A1019V;ENSP00000366169:A1011V;ENSP00000407879:A986V;ENSP00000262269:A1019V	ENSP00000262269:A1019V	A	+	2	0	MYH14	55466500	1.000000	0.71417	0.839000	0.33178	0.177000	0.22998	5.215000	0.65241	1.988000	0.58038	0.561000	0.74099	GCT		0.572	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		5	10	0	0	0	0.217242	0	5	10				
ESPN	83715	broad.mit.edu	37	1	6501114	6501114	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:6501114G>A	ENST00000377828.1	+	5	1147	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	327					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCGCACGGTGGAGAACCT	0.652																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(979-981)Gtg>Atg		espin							22.0	21.0	21.0					1																	6501114		2199	4296	6495	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6501114G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.979G>A	1.37:g.6501114G>A	ENSP00000367059:p.Val327Met						p.V327M	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	5	1147	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	327					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.979G>A	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358291	0.41801	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.49432	0.78;0.78	3.71	2.79	0.32731	Ankyrin repeat-containing domain (1);	0.099808	0.38605	N	0.001635	T	0.37156	0.0993	L	0.35487	1.065	0.80722	D	1	B	0.24186	0.099	B	0.30572	0.117	T	0.20874	-1.0262	10	0.48119	T	0.1	-19.1169	9.9273	0.41501	0.1041:0.0:0.8959:0.0	.	327	B1AK53	ESPN_HUMAN	M	327;112	ENSP00000367059:V327M;ENSP00000401793:V112M	ENSP00000367059:V327M	V	+	1	0	ESPN	6423701	1.000000	0.71417	0.916000	0.36221	0.515000	0.34225	8.897000	0.92532	0.777000	0.33496	0.186000	0.17326	GTG		0.652	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		4	2	0	0	0	0.184627	0	4	2				
GNAO1	2775	broad.mit.edu	37	16	56377829	56377829	+	Intron	SNP	C	C	T	rs199868005		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:56377829C>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Silent_p.I344I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ACGTCATCATCGCCAAAAACC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		14880	0.0		0.001	False		,,,				2504	0.0					ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(1030-1032)atC>atT		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							143.0	102.0	116.0					16																	56377829		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56377829C>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7057C>T	16.37:g.56377829C>T						GNAO1_ENST00000262493.6_Intron	p.I344I	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			8	1292	+		all_neural(199;0.159)	344					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.1032C>T	CCDS10756.1																																																																																				0.622	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		20	44	0	0	0	0.654019	0	20	44				
KIAA1244	57221	broad.mit.edu	37	6	138584306	138584306	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:138584306C>T	ENST00000251691.4	+	12	1852	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGCCAGATGTCGTGCAGAGAA	0.512																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1684-1686)gtC>gtT		KIAA1244							75.0	66.0	69.0					6																	138584306		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584306C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1686C>T	6.37:g.138584306C>T							p.V562V	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1852	+	Breast(32;0.135)		562						Silent	SNP	ENST00000251691.4	37	c.1686C>T	CCDS5189.2																																																																																				0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	40	0	0	0	0.217242	0	5	40				
HOXA9	3205	broad.mit.edu	37	7	27203284	27203284	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:27203284A>G	ENST00000343483.6	-	2	829	c.757T>C	c.(757-759)Tgg>Cgg	p.W253R	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.W93R|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	253					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TTCTGGAACCAGATCTTGACC	0.478			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(757-759)Tgg>Cgg		homeobox A9							136.0	137.0	137.0					7																	27203284		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203284A>G		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.757T>C	7.37:g.27203284A>G	ENSP00000343619:p.Trp253Arg					RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.W93R|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	p.W253R	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	829	-			253					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.757T>C	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240102	0.79912	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.99822	-6.94;-6.94	5.21	5.21	0.72293	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.56097	D	0.000023	D	0.99917	0.9961	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95916	0.8927	10	0.87932	D	0	.	14.5807	0.68288	1.0:0.0:0.0:0.0	.	253	P31269	HXA9_HUMAN	R	253;177;244;93	ENSP00000343619:W253R;ENSP00000421799:W93R	ENSP00000242050:W244R	W	-	1	0	RP1-170O19.20;HOXA9	27169809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.120000	0.65058	0.459000	0.35465	TGG		0.478	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			41	90	0	0	0	0.870114	0	41	90				
LAMB1	3912	broad.mit.edu	37	7	107576084	107576084	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:107576084T>C	ENST00000222399.6	-	27	4194	c.3964A>G	c.(3964-3966)Acc>Gcc	p.T1322A	LAMB1_ENST00000393561.1_Missense_Mutation_p.T1346A|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1322	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAATACTTGGTAATGCTATCC	0.493																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4036-4038)Acc>Gcc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						155.0	142.0	146.0					7																	107576084		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107576084T>C	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3964A>G	7.37:g.107576084T>C	ENSP00000222399:p.Thr1322Ala					LAMB1_ENST00000222399.6_Missense_Mutation_p.T1322A|LAMB1_ENST00000474380.1_5'UTR	p.T1346A			P07942	LAMB1_HUMAN			25	4220	-			1322			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4036A>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348215	0.41599	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32023	1.48;1.47	5.42	5.42	0.78866	.	.	.	.	.	T	0.29288	0.0729	L	0.47716	1.5	0.80722	D	1	B;B	0.24618	0.004;0.107	B;B	0.18871	0.002;0.023	T	0.03545	-1.1026	9	0.38643	T	0.18	.	15.6174	0.76778	0.0:0.0:0.0:1.0	.	1322;1346	P07942;G3XAI2	LAMB1_HUMAN;.	A	1346;1322	ENSP00000377191:T1346A;ENSP00000222399:T1322A	ENSP00000222399:T1322A	T	-	1	0	LAMB1	107363320	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	5.688000	0.68227	2.275000	0.75901	0.528000	0.53228	ACC		0.493	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		89	148	0	0	0	0.870114	0	89	148				
RBM11	54033	broad.mit.edu	37	21	15599295	15599295	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:15599295A>G	ENST00000400577.3	+	5	536	c.527A>G	c.(526-528)cAt>cGt	p.H176R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	176					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCACTGAATCATGTTCCAGAT	0.453																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(526-528)cAt>cGt		RNA binding motif protein 11							202.0	189.0	193.0					21																	15599295		1932	4135	6067	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599295A>G	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.527A>G	21.37:g.15599295A>G	ENSP00000383421:p.His176Arg					RBM11_ENST00000468643.1_3'UTR	p.H176R	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	536	+			176					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.527A>G	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	4.280	0.051166	0.08243	.	.	ENSG00000185272	ENST00000400577	T	0.07444	3.19	2.74	-1.46	0.08800	.	1.766790	0.02381	N	0.078761	T	0.06826	0.0174	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34030	-0.9845	10	0.19147	T	0.46	2.4099	3.4648	0.07545	0.5431:0.2035:0.2534:0.0	.	176	P57052	RBM11_HUMAN	R	176	ENSP00000383421:H176R	ENSP00000383421:H176R	H	+	2	0	RBM11	14521166	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.903000	0.04084	-0.287000	0.09064	0.352000	0.21897	CAT		0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		13	465	0	0	0	0.500413	0	13	465				
PDXDC1	23042	broad.mit.edu	37	16	15126717	15126717	+	Splice_Site	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:15126717G>T	ENST00000396410.4	+	18	1668		c.e18-1		PDXDC1_ENST00000569715.1_Splice_Site|PDXDC1_ENST00000447912.2_Splice_Site|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Splice_Site|PDXDC1_ENST00000450288.2_Splice_Site|PDXDC1_ENST00000325823.7_Splice_Site	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTTGTTTTAGGTATGAACAT	0.373																																						ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.e18-1		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						113.0	125.0	121.0					16																	15126717		2197	4300	6497	SO:0001630	splice_region_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15126717G>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1572-1G>T	16.37:g.15126717G>T						PDXDC1_ENST00000569715.1_Splice_Site|PDXDC1_ENST00000563679.1_Splice_Site|PDXDC1_ENST00000325823.7_Splice_Site|PDXDC1_ENST00000450288.2_Splice_Site|PDXDC1_ENST00000447912.2_Splice_Site|PDXDC1_ENST00000535621.2_Intron		NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			18	1668	+								B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Splice_Site	SNP	ENST00000396410.4	37		CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254414	0.80135	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5617	0.91102	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDXDC1	15034218	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.171000	0.77595	2.636000	0.89361	0.655000	0.94253	.		0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	Intron	134	204	1	0	8.90655e-82	0.870114	1.00829e-81	134	204				
ACVR1	90	broad.mit.edu	37	2	158630598	158630598	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:158630598A>G	ENST00000263640.3	-	6	1073		c.e6+1		ACVR1_ENST00000410057.2_Splice_Site|ACVR1_ENST00000434821.1_Splice_Site|ACVR1_ENST00000409283.2_Splice_Site	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I						activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AAAAAGAATTACCGACACACT	0.373																																						ENST00000263640.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.e6+1		activin A receptor, type I	Adenosine triphosphate(DB00171)						85.0	82.0	83.0					2																	158630598		2203	4300	6503	SO:0001630	splice_region_variant	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158630598A>G		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.643+1T>C	2.37:g.158630598A>G						ACVR1_ENST00000410057.2_Splice_Site|ACVR1_ENST00000434821.1_Splice_Site|ACVR1_ENST00000409283.2_Splice_Site		NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	6	1073	-									Splice_Site	SNP	ENST00000263640.3	37		CCDS2206.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475245	0.63737	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2433	0.82426	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACVR1	158338844	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	9.255000	0.95524	2.296000	0.77279	0.533000	0.62120	.		0.373	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	Intron	39	78	0	0	0	0.796494	0	39	78				
CCDC36	339834	broad.mit.edu	37	3	49293670	49293670	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:49293670A>C	ENST00000438782.1	+	8	976	c.740A>C	c.(739-741)cAg>cCg	p.Q247P	CCDC36_ENST00000296449.5_Missense_Mutation_p.Q247P|CCDC36_ENST00000452691.2_Missense_Mutation_p.Q247P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	247										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGCTAGGCCAGCTGAATGTG	0.507																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(739-741)cAg>cCg		coiled-coil domain containing 36							88.0	85.0	86.0					3																	49293670		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49293670A>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.740A>C	3.37:g.49293670A>C	ENSP00000391788:p.Gln247Pro					CCDC36_ENST00000452691.2_Missense_Mutation_p.Q247P|CCDC36_ENST00000296449.5_Missense_Mutation_p.Q247P	p.Q247P			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	976	+			247					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.740A>C	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515639	0.64634	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.15603	2.41;2.41;2.41	5.31	4.16	0.48862	.	0.401133	0.21892	N	0.067566	T	0.26774	0.0655	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.01966	-1.1238	10	0.66056	D	0.02	-5.6576	7.7737	0.29023	0.9078:0.0:0.0922:0.0	.	247	Q8IYA8	CCD36_HUMAN	P	247;247;247;227	ENSP00000296449:Q247P;ENSP00000391788:Q247P;ENSP00000407837:Q247P	ENSP00000296449:Q247P	Q	+	2	0	CCDC36	49268674	0.994000	0.37717	0.870000	0.34147	0.932000	0.56968	2.082000	0.41605	1.049000	0.40321	0.482000	0.46254	CAG		0.507	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		6	88	0	0	0	0.307466	0	6	88				
PHLPP1	23239	broad.mit.edu	37	18	60612366	60612366	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:60612366T>C	ENST00000262719.5	+	12	3420	c.3186T>C	c.(3184-3186)ctT>ctC	p.L1062L	PHLPP1_ENST00000400316.4_Silent_p.L550L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1062				L -> F (in Ref. 4; AAH47653). {ECO:0000305}.	apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGGAGGAACTTGAAGAAATTG	0.373																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(1648-1650)ctT>ctC		PH domain and leucine rich repeat protein phosphatase 1							47.0	45.0	46.0					18																	60612366		1866	4106	5972	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60612366T>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3186T>C	18.37:g.60612366T>C						PHLPP1_ENST00000262719.5_Silent_p.L1062L	p.L550L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			12	3431	+			1062			PH.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.1650T>C	CCDS45881.2																																																																																				0.373	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		17	35	0	0	0	0.500413	0	17	35				
DIS3	22894	broad.mit.edu	37	13	73340159	73340159	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:73340159T>C	ENST00000377767.4	-	15	2021	c.1921A>G	c.(1921-1923)Atg>Gtg	p.M641V	DIS3_ENST00000545453.1_Missense_Mutation_p.M479V|DIS3_ENST00000377780.4_Missense_Mutation_p.M611V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	641					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCACTGTCCATGTGGAATCGA	0.323										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1921-1923)Atg>Gtg		DIS3 mitotic control homolog (S. cerevisiae)							50.0	48.0	49.0					13																	73340159		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73340159T>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1921A>G	13.37:g.73340159T>C	ENSP00000366997:p.Met641Val	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Missense_Mutation_p.M479V|DIS3_ENST00000377780.4_Missense_Mutation_p.M611V	p.M641V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	15	2021	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	641					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1921A>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	8.551	0.875517	0.17395	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.29655	1.56;1.56;1.56	6.04	4.68	0.58851	Ribonuclease II/R (2);	0.187855	0.64402	D	0.000002	T	0.10551	0.0258	N	0.01417	-0.88	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.18681	-1.0329	10	0.10111	T	0.7	.	12.7598	0.57356	0.0:0.0732:0.0:0.9268	.	611;641	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	V	641;611;479	ENSP00000366997:M641V;ENSP00000367011:M611V;ENSP00000440058:M479V	ENSP00000366997:M641V	M	-	1	0	DIS3	72238160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.069000	0.64370	2.317000	0.78254	0.460000	0.39030	ATG		0.323	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		19	59	0	0	0	0.575678	0	19	59				
P4HA1	5033	broad.mit.edu	37	10	74834565	74834565	+	Splice_Site	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:74834565C>G	ENST00000307116.2	-	2	193		c.e2+1		P4HA1_ENST00000412021.2_Splice_Site|P4HA1_ENST00000440381.1_Splice_Site|P4HA1_ENST00000373008.2_Splice_Site|P4HA1_ENST00000394890.2_Splice_Site|P4HA1_ENST00000263556.3_Splice_Site|RP11-344N10.2_ENST00000431293.2_RNA			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I						collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAAGACTTACCAATTGAAGT	0.299																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.e3+1		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						60.0	62.0	61.0					10																	74834565		2203	4294	6497	SO:0001630	splice_region_variant	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74834565C>G		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.76+1G>C	10.37:g.74834565C>G						P4HA1_ENST00000394890.2_Splice_Site|P4HA1_ENST00000440381.1_Splice_Site|P4HA1_ENST00000373008.2_Splice_Site|P4HA1_ENST00000307116.2_Splice_Site|P4HA1_ENST00000263556.3_Splice_Site		NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			3	410	-	Prostate(51;0.0198)							C9JL12|Q15082|Q15083|Q5VSQ5	Splice_Site	SNP	ENST00000307116.2	37			.	.	.	.	.	.	.	.	.	.	C	23.3	4.401875	0.83120	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0384	0.97572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HA1	74504571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.592000	0.67543	2.838000	0.97847	0.655000	0.94253	.		0.299	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917	Intron	35	77	0	0	0	0.827153	0	35	77				
SPTB	6710	broad.mit.edu	37	14	65240097	65240097	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:65240097T>C	ENST00000389721.5	-	24	5051	c.5019A>G	c.(5017-5019)gcA>gcG	p.A1673A	SPTB_ENST00000389720.3_Silent_p.A1673A|SPTB_ENST00000389722.3_Silent_p.A1673A|SPTB_ENST00000542895.1_Silent_p.A1673A|SPTB_ENST00000556626.1_Silent_p.A1673A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1673					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTCAGCCCTGCGTAGTGCT	0.572																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5017-5019)gcA>gcG		spectrin, beta, erythrocytic							125.0	111.0	116.0					14																	65240097		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65240097T>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5019A>G	14.37:g.65240097T>C						SPTB_ENST00000389720.3_Silent_p.A1673A|SPTB_ENST00000389721.5_Silent_p.A1673A|SPTB_ENST00000556626.1_Silent_p.A1673A|SPTB_ENST00000542895.1_Silent_p.A1673A	p.A1673A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	24	5072	-		all_lung(585;4.15e-09)	1673					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5019A>G	CCDS32100.1																																																																																				0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			8	237	0	0	0	0.335167	0	8	237				
AHNAK2	113146	broad.mit.edu	37	14	105421090	105421090	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:105421090A>G	ENST00000333244.5	-	7	817	c.698T>C	c.(697-699)cTg>cCg	p.L233P	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	233						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTCCTTCCAGAGTTTTCGT	0.562																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(697-699)cTg>cCg		AHNAK nucleoprotein 2							31.0	32.0	32.0					14																	105421090		1907	4126	6033	SO:0001583	missense	113146					nucleus		g.chr14:105421090A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.698T>C	14.37:g.105421090A>G	ENSP00000353114:p.Leu233Pro						p.L233P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	817	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	233					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.698T>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	10.49	1.364740	0.24684	.	.	ENSG00000185567	ENST00000333244	T	0.02916	4.11	5.1	1.47	0.22746	.	1.775830	0.04498	U	0.380739	T	0.09158	0.0226	L	0.48642	1.525	0.09310	N	1	D	0.69078	0.997	D	0.66497	0.944	T	0.32025	-0.9922	10	0.35671	T	0.21	.	6.4148	0.21710	0.5736:0.0:0.4264:0.0	.	233	Q8IVF2	AHNK2_HUMAN	P	233	ENSP00000353114:L233P	ENSP00000353114:L233P	L	-	2	0	AHNAK2	104492135	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.016000	0.13377	0.369000	0.24510	0.455000	0.32223	CTG		0.562	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		15	27	0	0	0	0.500413	0	15	27				
XIRP2	129446	broad.mit.edu	37	2	168099974	168099974	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:168099974C>A	ENST00000409195.1	+	9	2161	c.2072C>A	c.(2071-2073)aCt>aAt	p.T691N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T691N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T469N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	516					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTCAAGACTGTGAGATAC	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2071-2073)aCt>aAt		xin actin-binding repeat containing 2							83.0	80.0	81.0					2																	168099974		1940	4139	6079	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099974C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2072C>A	2.37:g.168099974C>A	ENSP00000386840:p.Thr691Asn					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T691N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T469N	p.T691N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2161	+			516					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2072C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533235	0.64972	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03124	4.04;4.04;4.04	5.93	5.93	0.95920	.	0.166659	0.52532	D	0.000070	T	0.11410	0.0278	L	0.60845	1.875	0.41481	D	0.988169	D;D;D	0.57257	0.964;0.979;0.979	P;P;P	0.58454	0.694;0.839;0.839	T	0.00201	-1.1926	10	0.52906	T	0.07	-9.9031	11.577	0.50866	0.0:0.8629:0.0:0.1371	.	516;516;469	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	691;691;469	ENSP00000386840:T691N;ENSP00000295237:T691N;ENSP00000387255:T469N	ENSP00000295237:T691N	T	+	2	0	XIRP2	167808220	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.897000	0.48664	2.814000	0.96858	0.655000	0.94253	ACT		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		53	92	1	0	7.77372e-23	0.870114	8.5136e-23	53	92				
SYT15	83849	broad.mit.edu	37	10	46963839	46963839	+	Splice_Site	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:46963839C>T	ENST00000374321.4	-	7	1190		c.e7+1		SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Splice_Site|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Splice_Site|SYT15_ENST00000503753.1_Splice_Site	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTGGCCTTACTGTCCCCTTC	0.602																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.e6+1		synaptotagmin XV							99.0	100.0	100.0					10																	46963839		2136	4233	6369	SO:0001630	splice_region_variant	83849					integral to membrane|plasma membrane		g.chr10:46963839C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1123+1G>A	10.37:g.46963839C>T						SYT15_ENST00000374325.3_Splice_Site|SYT15_ENST00000503753.1_Splice_Site|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Splice_Site				Q9BQS2	SYT15_HUMAN			6	1870	-								A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Splice_Site	SNP	ENST00000374321.4	37		CCDS44376.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506432	0.64410	.	.	ENSG00000204176	ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6189	0.76790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYT15	46383845	0.999000	0.42202	0.860000	0.33809	0.758000	0.43043	4.909000	0.63314	2.474000	0.83562	0.650000	0.86243	.		0.602	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	Intron	9	45	0	0	0	0.335167	0	9	45				
TBC1D3B	414059	broad.mit.edu	37	17	34493433	34493433	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:34493433G>A	ENST00000454519.3	-	14	1741	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.S531L	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	531						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		gcaaggccctgaggtgggagc	0.602																																						ENST00000454519.3																			0				endometrium(2)|lung(3)|pancreas(1)	6						c.(1591-1593)tCa>tTa		TBC1 domain family, member 3B							12.0	20.0	18.0					17																	34493433		710	1927	2637	SO:0001583	missense	414059					intracellular	Rab GTPase activator activity	g.chr17:34493433G>A	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.1592C>T	17.37:g.34493433G>A	ENSP00000390852:p.Ser531Leu					CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.S531L	p.S531L	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	14	1741	-		Breast(25;0.102)|Ovarian(249;0.17)	531					A8K892	Missense_Mutation	SNP	ENST00000454519.3	37	c.1592C>T	CCDS42300.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.619740	0.28801	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.13420	2.59;2.59	.	.	.	.	0.189794	0.21608	U	0.071831	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	D	0.72338	0.977	T	0.09596	-1.0667	8	0.72032	D	0.01	.	.	.	.	.	531	A6NDS4	TBC3B_HUMAN	L	531;531;509	ENSP00000381781:S531L;ENSP00000390852:S531L	ENSP00000340678:S509L	S	-	2	0	TBC1D3B	31517546	0.227000	0.23707	0.017000	0.16124	0.017000	0.09413	0.223000	0.17719	0.172000	0.19760	0.175000	0.17021	TCA		0.602	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		72	147	0	0	0	0.870114	0	72	147				
ADCY5	111	broad.mit.edu	37	3	123019001	123019001	+	Missense_Mutation	SNP	C	C	T	rs200892634	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:123019001C>T	ENST00000462833.1	-	15	4078	c.2866G>A	c.(2866-2868)Gac>Aac	p.D956N	ADCY5_ENST00000309879.5_Missense_Mutation_p.D606N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D589N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	956					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCGGCGTTGTCGAAGAGCGTG	0.617													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		20876	0.0		0.0	False		,,,				2504	0.0					ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2866-2868)Gac>Aac		adenylate cyclase 5		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	146.0	112.0	123.0		1816,2866	3.7	1.0	3		123	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	ADCY5	NM_001199642.1,NM_183357.2	23,23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	606/912,956/1262	123019001	3,13003	2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123019001C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2866G>A	3.37:g.123019001C>T	ENSP00000419361:p.Asp956Asn					ADCY5_ENST00000309879.5_Missense_Mutation_p.D606N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D589N	p.D956N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	15	4078	-			956					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2866G>A	CCDS3022.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.33	3.599643	0.66332	0.0	3.49E-4	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.82255	-1.15;-1.59;-1.56	4.55	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.88629	0.6488	M	0.84326	2.69	0.58432	D	0.99999	D;D	0.69078	0.997;0.996	P;P	0.57960	0.801;0.83	D	0.87807	0.2629	10	0.34782	T	0.22	.	12.6615	0.56815	0.0:0.9198:0.0:0.0802	.	956;589	O95622;B3KWA8	ADCY5_HUMAN;.	N	956;589;606	ENSP00000419361:D956N;ENSP00000418537:D589N;ENSP00000308685:D606N	ENSP00000308685:D606N	D	-	1	0	ADCY5	124501691	1.000000	0.71417	0.999000	0.59377	0.455000	0.32408	5.890000	0.69774	1.138000	0.42230	-0.141000	0.14075	GAC		0.617	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		4	59	0	0	0	0.184627	0	4	59				
IGSF10	285313	broad.mit.edu	37	3	151156202	151156202	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:151156202T>C	ENST00000282466.3	-	6	6146	c.6147A>G	c.(6145-6147)caA>caG	p.Q2049Q	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2049	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGGAGCACTTGCTTTCTAA	0.443																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(6145-6147)caA>caG		immunoglobulin superfamily, member 10							133.0	127.0	129.0					3																	151156202		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151156202T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6147A>G	3.37:g.151156202T>C						IGSF10_ENST00000495443.1_5'UTR	p.Q2049Q	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6146	-			2049			Ig-like C2-type 7.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.6147A>G	CCDS3160.1																																																																																				0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		109	202	0	0	0	0.870114	0	109	202				
UNC45B	146862	broad.mit.edu	37	17	33510469	33510469	+	Silent	SNP	C	C	T	rs74403538	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:33510469C>T	ENST00000268876.5	+	19	2500	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	UNC45B_ENST00000591048.1_Silent_p.D720D|UNC45B_ENST00000394570.2_Silent_p.D799D|UNC45B_ENST00000378449.1_Silent_p.D720D|UNC45B_ENST00000433649.1_Silent_p.D799D	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	801					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCTTGGCTGACGGGAATGACC	0.567													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		20517	0.0		0.0	False		,,,				2504	0.0					ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2401-2403)gaC>gaT		unc-45 homolog B (C. elegans)		C	,	1,4405	2.1+/-5.4	0,1,2202	89.0	76.0	81.0		2397,2403	-2.4	1.0	17	dbSNP_131	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UNC45B	NM_001033576.1,NM_173167.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	799/930,801/932	33510469	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33510469C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2403C>T	17.37:g.33510469C>T						UNC45B_ENST00000378449.1_Silent_p.D720D|UNC45B_ENST00000433649.1_Silent_p.D799D|UNC45B_ENST00000591048.1_Silent_p.D720D|UNC45B_ENST00000394570.2_Silent_p.D799D	p.D801D	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			19	2500	+		Ovarian(249;0.17)	801					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.2403C>T	CCDS11292.1																																																																																				0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		22	49	0	0	0	0.706142	0	22	49				
SEC14L1	6397	broad.mit.edu	37	17	75190814	75190814	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:75190814T>C	ENST00000413679.2	+	7	833	c.530T>C	c.(529-531)tTt>tCt	p.F177S	SEC14L1_ENST00000436233.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.F177S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.F177S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.F143S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.F143S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	177					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGCATAACCTTTGTGCCCCGT	0.438																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(529-531)tTt>tCt		SEC14-like 1 (S. cerevisiae)							110.0	102.0	105.0					17																	75190814		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75190814T>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.530T>C	17.37:g.75190814T>C	ENSP00000394716:p.Phe177Ser					SEC14L1_ENST00000392476.2_Missense_Mutation_p.F177S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.F143S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.F143S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.F177S	p.F177S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			7	833	+			177					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.530T>C	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.963841	0.34659	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.69685	-0.32;-0.32;-0.32;-0.32;-0.32;-0.42	5.21	4.11	0.48088	.	0.205916	0.52532	D	0.000065	T	0.53158	0.1779	L	0.42245	1.32	0.24121	N	0.995806	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.44159	-0.9346	10	0.38643	T	0.18	-30.9773	5.3939	0.16259	0.1554:0.0815:0.0:0.7631	.	177;177	Q92503-2;Q92503	.;S14L1_HUMAN	S	177;177;177;177;177;143	ENSP00000376268:F177S;ENSP00000406030:F177S;ENSP00000390392:F177S;ENSP00000408169:F177S;ENSP00000394716:F177S;ENSP00000389838:F143S	ENSP00000376268:F177S	F	+	2	0	SEC14L1	72702409	0.881000	0.30235	0.328000	0.25416	0.977000	0.68977	1.954000	0.40362	0.781000	0.33589	0.533000	0.62120	TTT		0.438	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		6	236	0	0	0	0.307466	0	6	236				
PML	5371	broad.mit.edu	37	15	74315449	74315449	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:74315449C>T	ENST00000268058.3	+	3	979	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	PML_ENST00000359928.4_Missense_Mutation_p.R295C|PML_ENST00000564428.1_Missense_Mutation_p.R295C|PML_ENST00000569477.1_Missense_Mutation_p.R295C|PML_ENST00000435786.2_Missense_Mutation_p.R295C|PML_ENST00000563500.1_Missense_Mutation_p.R295C|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.R295C|PML_ENST00000268059.6_Missense_Mutation_p.R295C|PML_ENST00000565898.1_Missense_Mutation_p.R295C|PML_ENST00000436891.3_Missense_Mutation_p.R295C|PML_ENST00000567543.1_Missense_Mutation_p.R295C|PML_ENST00000569965.1_Missense_Mutation_p.R295C|PML_ENST00000395132.2_Missense_Mutation_p.R295C|PML_ENST00000354026.6_Missense_Mutation_p.R295C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	295					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGCTCAGGAGCGCGAGCTGCT	0.731			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(883-885)Cgc>Tgc		promyelocytic leukemia							17.0	20.0	19.0					15																	74315449		2170	4247	6417	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315449C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.883C>T	15.37:g.74315449C>T	ENSP00000268058:p.Arg295Cys					PML_ENST00000569477.1_Missense_Mutation_p.R295C|PML_ENST00000268058.3_Missense_Mutation_p.R295C|PML_ENST00000354026.6_Missense_Mutation_p.R295C|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.R295C|PML_ENST00000359928.4_Missense_Mutation_p.R295C|PML_ENST00000569965.1_Missense_Mutation_p.R295C|PML_ENST00000435786.2_Missense_Mutation_p.R295C|PML_ENST00000395135.3_Missense_Mutation_p.R295C|PML_ENST00000436891.3_Missense_Mutation_p.R295C|PML_ENST00000563500.1_Missense_Mutation_p.R295C|PML_ENST00000395132.2_Missense_Mutation_p.R295C|PML_ENST00000564428.1_Missense_Mutation_p.R295C|PML_ENST00000268059.6_Missense_Mutation_p.R295C	p.R295C			P29590	PML_HUMAN			3	967	+			295					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.883C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751585	0.49257	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T	0.49139	1.67;0.79;1.67	5.06	-1.2	0.09554	.	1.818660	0.03150	N	0.167838	T	0.60741	0.2292	L	0.55481	1.735	0.19775	N	0.99995	D;D;D;P;P;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.961;0.9;0.9;0.976;0.999;1.0;0.998;0.998;0.999;1.0;1.0	P;P;P;P;B;P;P;P;P;P;P;P;D	0.63033	0.899;0.873;0.718;0.51;0.408;0.502;0.828;0.791;0.799;0.711;0.736;0.899;0.91	T	0.52975	-0.8503	10	0.72032	D	0.01	-6.0424	8.5625	0.33520	0.5634:0.2145:0.222:0.0	.	295;245;295;295;295;295;295;295;295;295;295;295;298	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	C	295	ENSP00000353004:R295C;ENSP00000268058:R295C;ENSP00000378564:R295C	ENSP00000268058:R295C	R	+	1	0	PML	72102502	0.002000	0.14202	0.035000	0.18076	0.459000	0.32528	-0.245000	0.08890	-0.082000	0.12640	-0.475000	0.04921	CGC		0.731	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		12	35	0	0	0	0.457914	0	12	35				
NGEF	25791	broad.mit.edu	37	2	233839410	233839410	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:233839410A>G	ENST00000264051.3	-	2	469	c.191T>C	c.(190-192)aTc>aCc	p.I64T		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	64	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCGATTGAAGATGGAATTTCT	0.493																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(190-192)aTc>aCc		neuronal guanine nucleotide exchange factor							321.0	300.0	307.0					2																	233839410		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233839410A>G	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.191T>C	2.37:g.233839410A>G	ENSP00000264051:p.Ile64Thr						p.I64T	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	2	469	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	64			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.191T>C	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.574|7.574	0.667323|0.667323	0.14710|0.14710	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051|ENST00000414326	T|.	0.73047|.	-0.71|.	5.06|5.06	2.66|2.66	0.31614|0.31614	.|.	1.130330|.	0.06716|.	N|.	0.774081|.	T|T	0.39226|0.39226	0.1070|0.1070	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.07539|0.07539	-1.0767|-1.0767	10|5	0.08837|.	T|.	0.75|.	-14.467|-14.467	7.1654|7.1654	0.25687|0.25687	0.817:0.0:0.183:0.0|0.817:0.0:0.183:0.0	.|.	64|.	Q8N5V2|.	NGEF_HUMAN|.	T|P	64|33	ENSP00000264051:I64T|.	ENSP00000264051:I64T|.	I|S	-|-	2|1	0|0	NGEF|NGEF	233547654|233547654	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.041000|0.041000	0.13682|0.13682	1.701000|1.701000	0.37825|0.37825	0.465000|0.465000	0.27167|0.27167	-0.290000|-0.290000	0.09829|0.09829	ATC|TCT		0.493	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		141	299	0	0	0	0.870114	0	141	299				
SMCR8	140775	broad.mit.edu	37	17	18219509	18219509	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:18219509G>A	ENST00000406438.3	+	1	886	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	136						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTTTGCATACGTGCACCACCT	0.552																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(406-408)Gtg>Atg		Smith-Magenis syndrome chromosome region, candidate 8							81.0	84.0	83.0					17																	18219509		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219509G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.406G>A	17.37:g.18219509G>A	ENSP00000385025:p.Val136Met						p.V136M	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	886	+			136					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.406G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215281	0.79352	.	.	ENSG00000176994	ENST00000406438	D	0.88741	-2.42	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.94424	0.8206	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94330	0.7561	10	0.87932	D	0	-37.3224	20.073	0.97731	0.0:0.0:1.0:0.0	.	136	Q8TEV9	SMCR8_HUMAN	M	136	ENSP00000385025:V136M	ENSP00000385025:V136M	V	+	1	0	SMCR8	18160234	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	7.474000	0.81024	2.750000	0.94351	0.655000	0.94253	GTG		0.552	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		65	135	0	0	0	0.870114	0	65	135				
FTO	79068	broad.mit.edu	37	16	53922839	53922839	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:53922839A>G	ENST00000471389.1	+	7	1437	c.1215A>G	c.(1213-1215)gcA>gcG	p.A405A	FTO_ENST00000394647.3_Silent_p.A109A|FTO_ENST00000460382.1_Silent_p.A6A|FTO_ENST00000431610.2_Silent_p.A6A	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	405			A -> V (in dbSNP:rs16952624).		adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTGGAAGCACTGTGGAAGA	0.502																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1213-1215)gcA>gcG		fat mass and obesity associated							290.0	260.0	270.0					16																	53922839		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53922839A>G	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1215A>G	16.37:g.53922839A>G						FTO_ENST00000394647.3_Silent_p.A109A|FTO_ENST00000460382.1_Silent_p.A6A|FTO_ENST00000431610.2_Silent_p.A6A	p.A405A	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			7	1437	+			405		A -> V (in dbSNP:rs16952624).			A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1215A>G	CCDS32448.1																																																																																				0.502	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		54	113	0	0	0	0.870114	0	54	113				
TMEM132D	121256	broad.mit.edu	37	12	129559558	129559558	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:129559558G>A	ENST00000422113.2	-	9	2488	c.2162C>T	c.(2161-2163)aCg>aTg	p.T721M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T259M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	721					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCAAGGGCGTGACTGAGCC	0.468																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2161-2163)aCg>aTg		transmembrane protein 132D							60.0	55.0	56.0					12																	129559558		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559558G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2162C>T	12.37:g.129559558G>A	ENSP00000408581:p.Thr721Met					TMEM132D_ENST00000389441.4_Missense_Mutation_p.T259M	p.T721M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2488	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	721					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2162C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373989	0.42105	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14266	2.52;2.52	4.3	3.1	0.35709	.	0.258733	0.34603	N	0.003836	T	0.08758	0.0217	L	0.46741	1.465	0.47276	D	0.999374	P;P	0.42649	0.652;0.786	B;B	0.35770	0.07;0.21	T	0.10154	-1.0642	9	.	.	.	-22.6288	2.5652	0.04781	0.2437:0.3173:0.439:0.0	.	721;259	Q14C87;Q14C87-2	T132D_HUMAN;.	M	259;721	ENSP00000374092:T259M;ENSP00000408581:T721M	.	T	-	2	0	TMEM132D	128125511	1.000000	0.71417	0.961000	0.40146	0.565000	0.35776	4.227000	0.58612	2.090000	0.63153	0.462000	0.41574	ACG		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		42	78	0	0	0	0.853193	0	42	78				
OR5K4	403278	broad.mit.edu	37	3	98072884	98072884	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:98072884C>A	ENST00000354924.2	+	1	187	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTACATCTTTCTGGGCAACCT	0.453																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(187-189)Ctg>Atg		olfactory receptor, family 5, subfamily K, member 4							301.0	296.0	297.0					3																	98072884		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072884C>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.187C>A	3.37:g.98072884C>A	ENSP00000347003:p.Leu63Met					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L63M	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	187	+			63						Missense_Mutation	SNP	ENST00000354924.2	37	c.187C>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809686	0.50421	.	.	ENSG00000196098	ENST00000354924	T	0.02103	4.45	4.63	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27311	U	0.019958	T	0.16128	0.0388	H	0.97611	4.04	0.28462	N	0.915816	D	0.76494	0.999	D	0.73380	0.98	T	0.15867	-1.0422	10	0.87932	D	0	-19.8248	4.0374	0.09735	0.189:0.6171:0.0:0.1939	.	63	A6NMS3	OR5K4_HUMAN	M	63	ENSP00000347003:L63M	ENSP00000347003:L63M	L	+	1	2	OR5K4	99555574	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.281000	0.08456	0.638000	0.30545	0.505000	0.49811	CTG		0.453	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			303	528	1	0	1.03459e-158	0.870114	1.17281e-158	303	528				
H2AFY2	55506	broad.mit.edu	37	10	71868887	71868887	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:71868887A>G	ENST00000373255.4	+	8	1141	c.877A>G	c.(877-879)Acc>Gcc	p.T293A	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	293	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GCTTGAAGAGACCATCAAAAA	0.557																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(877-879)Acc>Gcc		H2A histone family, member Y2							85.0	78.0	80.0					10																	71868887		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71868887A>G	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.877A>G	10.37:g.71868887A>G	ENSP00000362352:p.Thr293Ala					AIFM2_ENST00000373248.1_Intron	p.T293A	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			8	1141	+			293			Macro.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.877A>G	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208714	0.58343	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.17854	2.25;2.25	6.03	6.03	0.97812	Appr-1-p processing (2);	0.048435	0.85682	D	0.000000	T	0.14614	0.0353	N	0.16903	0.455	0.80722	D	1	B	0.30211	0.273	B	0.35182	0.197	T	0.13124	-1.0521	10	0.35671	T	0.21	.	16.2389	0.82396	1.0:0.0:0.0:0.0	.	293	Q9P0M6	H2AW_HUMAN	A	293;227;227	ENSP00000362352:T293A;ENSP00000404584:T227A	ENSP00000362352:T293A	T	+	1	0	H2AFY2	71538893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.302000	0.77476	0.533000	0.62120	ACC		0.557	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		13	110	0	0	0	0.435327	0	13	110				
NEB	4703	broad.mit.edu	37	2	152534241	152534241	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:152534241G>C	ENST00000172853.10	-	34	3759	c.3612C>G	c.(3610-3612)ggC>ggG	p.G1204G	NEB_ENST00000397345.3_Silent_p.G1204G|NEB_ENST00000409198.1_Silent_p.G1204G|NEB_ENST00000427231.2_Silent_p.G1204G|NEB_ENST00000604864.1_Silent_p.G1204G|NEB_ENST00000603639.1_Silent_p.G1204G			P20929	NEBU_HUMAN	nebulin	1204					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGGAATCCAGCCAATGCCTT	0.453																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(3610-3612)ggC>ggG		nebulin							229.0	219.0	222.0					2																	152534241		1908	4122	6030	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534241G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3612C>G	2.37:g.152534241G>C						NEB_ENST00000172853.10_Silent_p.G1204G|NEB_ENST00000409198.1_Silent_p.G1204G|NEB_ENST00000397345.3_Silent_p.G1204G|NEB_ENST00000603639.1_Silent_p.G1204G|NEB_ENST00000604864.1_Silent_p.G1204G	p.G1204G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3814	-			1204					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3612C>G																																																																																					0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		166	275	0	0	0	0.870114	0	166	275				
DHX37	57647	broad.mit.edu	37	12	125467060	125467060	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:125467060T>G	ENST00000308736.2	-	3	484	c.386A>C	c.(385-387)aAa>aCa	p.K129T	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	129							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AACTCACTCTTTGGTGTGATA	0.552																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(385-387)aAa>aCa		DEAH (Asp-Glu-Ala-His) box polypeptide 37							308.0	305.0	306.0					12																	125467060		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125467060T>G	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.386A>C	12.37:g.125467060T>G	ENSP00000311135:p.Lys129Thr						p.K129T	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	3	484	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		129					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.386A>C	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.593443	0.28357	.	.	ENSG00000150990	ENST00000308736	T	0.09445	2.98	5.15	-3.17	0.05202	.	0.453907	0.25975	N	0.027112	T	0.08492	0.0211	L	0.55481	1.735	0.51233	D	0.999911	P	0.36282	0.546	B	0.29267	0.1	T	0.04678	-1.0934	10	0.46703	T	0.11	.	11.1886	0.48671	0.0:0.47:0.0:0.53	.	129	Q8IY37	DHX37_HUMAN	T	129	ENSP00000311135:K129T	ENSP00000311135:K129T	K	-	2	0	DHX37	124033013	0.999000	0.42202	0.032000	0.17829	0.247000	0.25773	0.458000	0.21892	-0.950000	0.03659	0.379000	0.24179	AAA		0.552	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		168	332	0	0	0	0.870114	0	168	332				
AEBP1	165	broad.mit.edu	37	7	44153558	44153558	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:44153558A>G	ENST00000223357.3	+	21	3480	c.3175A>G	c.(3175-3177)Acc>Gcc	p.T1059A	AEBP1_ENST00000450684.2_Missense_Mutation_p.T634A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1059	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGCCCCTGCCACCACCCTGAG	0.682																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3175-3177)Acc>Gcc		AE binding protein 1							44.0	42.0	43.0					7																	44153558		2202	4298	6500	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153558A>G	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3175A>G	7.37:g.44153558A>G	ENSP00000223357:p.Thr1059Ala					AEBP1_ENST00000450684.2_Missense_Mutation_p.T634A	p.T1059A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3480	+			1059			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3175A>G	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639127	0.47153	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.07	4.72	0.196	0.15159	.	3.907140	0.00447	N	0.000092	D	0.88883	0.6558	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.001	T	0.77838	-0.2439	10	0.66056	D	0.02	-0.9141	3.4641	0.07544	0.467:0.319:0.1271:0.0868	.	634;1059	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	A	1059;634	ENSP00000223357:T1059A;ENSP00000398878:T634A	ENSP00000223357:T1059A	T	+	1	0	AEBP1	44120083	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	0.026000	0.13599	0.124000	0.18369	-0.461000	0.05368	ACC		0.682	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		4	9	0	0	0	0.217242	0	4	9				
ATP2C2	9914	broad.mit.edu	37	16	84495688	84495688	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:84495688T>C	ENST00000262429.4	+	26	2764	c.2675T>C	c.(2674-2676)aTc>aCc	p.I892T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.I921T|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	892					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCATTTACATCCCCCCGCTG	0.612																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2761-2763)aTc>aCc		ATPase, Ca++ transporting, type 2C, member 2							85.0	94.0	91.0					16																	84495688		1967	4149	6116	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495688T>C	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2675T>C	16.37:g.84495688T>C	ENSP00000262429:p.Ile892Thr					RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Missense_Mutation_p.I892T|ATP2C2_ENST00000420010.2_3'UTR	p.I921T			O75185	AT2C2_HUMAN			27	2851	+			892					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2762T>C	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	T	8.618	0.890624	0.17613	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.96073	-3.9;-3.9	5.14	-0.986	0.10252	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.383590	0.04727	N	0.420494	D	0.90981	0.7164	L	0.28274	0.84	0.24920	N	0.991986	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12837	0.008;0.005;0.003;0.005;0.005	T	0.79458	-0.1795	10	0.35671	T	0.21	.	9.3706	0.38252	0.0:0.3723:0.0:0.6277	.	921;741;741;909;892	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	T	921;892;741	ENSP00000397925:I921T;ENSP00000262429:I892T	ENSP00000262429:I892T	I	+	2	0	ATP2C2	83053189	0.930000	0.31532	0.000000	0.03702	0.064000	0.16182	3.371000	0.52379	-0.494000	0.06669	0.459000	0.35465	ATC		0.612	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		55	117	0	0	0	0.870114	0	55	117				
LRP1	4035	broad.mit.edu	37	12	57605026	57605026	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57605026C>T	ENST00000243077.3	+	84	13450	c.12984C>T	c.(12982-12984)tgC>tgT	p.C4328C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4328	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGACAATGCCGCTGCACTG	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12982-12984)tgC>tgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						98.0	78.0	85.0					12																	57605026		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605026C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12984C>T	12.37:g.57605026C>T							p.C4328C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	84	13450	+			4328			EGF-like 20.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.12984C>T	CCDS8932.1																																																																																				0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	32	0	0	0	0.539581	0	13	32				
MRE11A	4361	broad.mit.edu	37	11	94203744	94203744	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:94203744C>T	ENST00000323929.3	-	9	1132	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	MRE11A_ENST00000393241.4_Missense_Mutation_p.V304M|MRE11A_ENST00000323977.3_Missense_Mutation_p.V304M|MRE11A_ENST00000407439.3_Missense_Mutation_p.V307M|RP11-685N10.1_ENST00000541092.1_RNA	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	304					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AACTGCCGCACTGTGTGAAGA	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(910-912)Gtg>Atg	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							130.0	117.0	121.0					11																	94203744		2201	4297	6498	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94203744C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.910G>A	11.37:g.94203744C>T	ENSP00000325863:p.Val304Met					MRE11A_ENST00000323977.3_Missense_Mutation_p.V304M|MRE11A_ENST00000407439.3_Missense_Mutation_p.V307M|MRE11A_ENST00000393241.4_Missense_Mutation_p.V304M	p.V304M	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			9	1132	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	304					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.910G>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963207	0.92791	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.22	5.22	0.72569	Mre11, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.992;0.974;1.0	D	0.95047	0.8183	10	0.87932	D	0	-16.6672	19.1322	0.93412	0.0:1.0:0.0:0.0	.	307;304;304	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	M	304;307;304;304	ENSP00000325863:V304M;ENSP00000385614:V307M;ENSP00000326094:V304M;ENSP00000376933:V304M	ENSP00000325863:V304M	V	-	1	0	MRE11A	93843392	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.285000	0.78660	2.570000	0.86706	0.650000	0.86243	GTG		0.398	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		5	147	0	0	0	0.217242	0	5	147				
YTHDF1	54915	broad.mit.edu	37	20	61845285	61845285	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:61845285A>G	ENST00000370339.3	-	3	404	c.63T>C	c.(61-63)ggT>ggC	p.G21G	YTHDF1_ENST00000370334.4_Silent_p.G21G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	21							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GATGTAACGAACCATTTTGTA	0.328																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(61-63)ggT>ggC		YTH domain family, member 1							98.0	89.0	92.0					20																	61845285		2203	4300	6503	SO:0001819	synonymous_variant	54915							g.chr20:61845285A>G	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.63T>C	20.37:g.61845285A>G						YTHDF1_ENST00000370334.4_Silent_p.G21G	p.G21G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			3	404	-			21					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.63T>C	CCDS13511.1																																																																																				0.328	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		24	82	0	0	0	0.819951	0	24	82				
EOGT	285203	broad.mit.edu	37	3	69047200	69047200	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:69047200A>C	ENST00000383701.3	-	10	1535	c.793T>G	c.(793-795)Tca>Gca	p.S265A	EOGT_ENST00000540764.1_Missense_Mutation_p.S164A|EOGT_ENST00000295571.5_Missense_Mutation_p.S265A|EOGT_ENST00000540955.1_Intron	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	265					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GTACTGAATGAGTTATTAACG	0.388																																						ENST00000383701.3																			0											c.(793-795)Tca>Gca		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							162.0	142.0	149.0					3																	69047200		2203	4300	6503	SO:0001583	missense	285203							g.chr3:69047200A>C	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.793T>G	3.37:g.69047200A>C	ENSP00000373206:p.Ser265Ala					EOGT_ENST00000540764.1_Missense_Mutation_p.S164A|EOGT_ENST00000295571.5_Missense_Mutation_p.S265A|EOGT_ENST00000540955.1_Intron	p.S265A	NM_001278689.1	NP_001265618.1					10	1535	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.793T>G		.	.	.	.	.	.	.	.	.	.	A	17.38	3.374289	0.61735	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.09445	2.98;2.98;2.98	5.41	5.41	0.78517	.	0.120979	0.64402	D	0.000019	T	0.33962	0.0881	.	.	.	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.77557	0.925;0.99	T	0.06463	-1.0825	9	0.66056	D	0.02	.	15.7409	0.77894	1.0:0.0:0.0:0.0	.	265;265	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	A	265;265;164	ENSP00000373206:S265A;ENSP00000295571:S265A;ENSP00000443780:S164A	ENSP00000295571:S265A	S	-	1	0	C3orf64	69129890	1.000000	0.71417	0.470000	0.27216	0.080000	0.17528	9.060000	0.93907	2.188000	0.69820	0.482000	0.46254	TCA		0.388	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		95	81	0	0	0	0.870114	0	95	81				
LRRC27	80313	broad.mit.edu	37	10	134161565	134161565	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:134161565A>G	ENST00000368614.3	+	6	736	c.631A>G	c.(631-633)Aac>Gac	p.N211D	LRRC27_ENST00000432555.2_Missense_Mutation_p.N84D|LRRC27_ENST00000392638.2_Missense_Mutation_p.N211D|LRRC27_ENST00000368615.3_Missense_Mutation_p.N211D|LRRC27_ENST00000368612.1_Missense_Mutation_p.N149D|LRRC27_ENST00000368613.4_Missense_Mutation_p.N211D|LRRC27_ENST00000344079.5_Missense_Mutation_p.N211D|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368610.3_Missense_Mutation_p.N149D	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	211										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACGCGTCTAACCAAGGAGC	0.572																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(631-633)Aac>Gac		leucine rich repeat containing 27							77.0	80.0	79.0					10																	134161565		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134161565A>G	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.631A>G	10.37:g.134161565A>G	ENSP00000357603:p.Asn211Asp					LRRC27_ENST00000368612.1_Missense_Mutation_p.N149D|LRRC27_ENST00000368614.3_Missense_Mutation_p.N211D|LRRC27_ENST00000344079.5_Missense_Mutation_p.N211D|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000432555.2_Missense_Mutation_p.N84D|LRRC27_ENST00000368610.3_Missense_Mutation_p.N149D|LRRC27_ENST00000368613.4_Missense_Mutation_p.N211D|LRRC27_ENST00000368615.3_Missense_Mutation_p.N211D	p.N211D			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	826	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	211					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.631A>G	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539889	0.45176	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T;T;T;T	0.42900	2.69;2.6;2.6;2.59;2.59;4.35;4.35;0.96	3.75	1.31	0.21738	.	1.168500	0.06312	N	0.702974	T	0.26231	0.0640	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.21381	0.005;0.002;0.012;0.006;0.055	B;B;B;B;B	0.20577	0.011;0.005;0.011;0.003;0.03	T	0.24621	-1.0155	10	0.33940	T	0.23	-5.1241	5.3775	0.16174	0.7222:0.0:0.2778:0.0	.	211;84;149;211;211	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;.;LRC27_HUMAN;.	D	211;211;211;211;211;149;149;84	ENSP00000357604:N211D;ENSP00000376413:N211D;ENSP00000342641:N211D;ENSP00000357603:N211D;ENSP00000357602:N211D;ENSP00000357601:N149D;ENSP00000357599:N149D;ENSP00000407949:N84D	ENSP00000342641:N211D	N	+	1	0	LRRC27	134011555	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.052000	0.14163	0.136000	0.18733	0.533000	0.62120	AAC		0.572	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		55	113	0	0	0	0.870114	0	55	113				
PHB	5245	broad.mit.edu	37	17	47484173	47484173	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:47484173G>A	ENST00000300408.3	-	6	626	c.554C>T	c.(553-555)gCc>gTc	p.A185V	RP11-1079K10.4_ENST00000506504.3_RNA|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	185					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CACCTGTTTGGCTTCCACCGC	0.557																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(553-555)gCc>gTc		prohibitin							83.0	79.0	80.0					17																	47484173		2203	4298	6501	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47484173G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.554C>T	17.37:g.47484173G>A	ENSP00000300408:p.Ala185Val					RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR	p.A185V	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		6	626	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		185					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.554C>T	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094003	0.56075	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.39	5.39	0.77823	.	0.200580	0.52532	D	0.000076	D	0.95284	0.8470	M	0.92923	3.36	0.80722	D	1	B	0.09022	0.002	B	0.20767	0.031	D	0.93270	0.6651	10	0.59425	D	0.04	.	12.0956	0.53752	0.0829:0.0:0.9171:0.0	.	185	P35232	PHB_HUMAN	V	185	ENSP00000300408:A185V;ENSP00000393320:A185V;ENSP00000426433:A185V;ENSP00000422182:A185V;ENSP00000407828:A185V	ENSP00000300408:A185V	A	-	2	0	PHB	44839172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.637000	0.67854	2.523000	0.85059	0.655000	0.94253	GCC		0.557	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		25	51	0	0	0	0.717897	0	25	51				
FBXL14	144699	broad.mit.edu	37	12	1702059	1702059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:1702059G>A	ENST00000339235.3	-	1	1272	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	392					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TCCGTCATCTGCCAGAGTCCC	0.632																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(1174-1176)Cag>Tag		F-box and leucine-rich repeat protein 14							63.0	57.0	59.0					12																	1702059		2203	4300	6503	SO:0001587	stop_gained	144699					cytoplasm		g.chr12:1702059G>A	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1174C>T	12.37:g.1702059G>A	ENSP00000344855:p.Gln392*					WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_Intron	p.Q392*	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	1272	-	Ovarian(42;0.107)		392						Nonsense_Mutation	SNP	ENST00000339235.3	37	c.1174C>T	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	G	38	7.166320	0.98107	.	.	ENSG00000171823	ENST00000339235	.	.	.	5.03	5.03	0.67393	.	0.134395	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	15.2561	0.73585	0.0:0.1506:0.8493:0.0	.	.	.	.	X	392	.	ENSP00000344855:Q392X	Q	-	1	0	FBXL14	1572320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.598000	0.87819	0.650000	0.86243	CAG		0.632	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		30	43	0	0	0	0.819951	0	30	43				
STAT6	6778	broad.mit.edu	37	12	57498535	57498535	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57498535A>G	ENST00000300134.3	-	10	1388	c.1063T>C	c.(1063-1065)Tgc>Cgc	p.C355R	STAT6_ENST00000538913.2_Missense_Mutation_p.C245R|STAT6_ENST00000543873.2_Missense_Mutation_p.C355R|STAT6_ENST00000556155.1_Missense_Mutation_p.C355R|STAT6_ENST00000454075.3_Missense_Mutation_p.C355R|STAT6_ENST00000537215.2_Missense_Mutation_p.C245R	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	355					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCAGAGCAGCAGTTCCCAGGA	0.562																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1063-1065)Tgc>Cgc		signal transducer and activator of transcription 6, interleukin-4 induced							128.0	104.0	112.0					12																	57498535		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57498535A>G	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1063T>C	12.37:g.57498535A>G	ENSP00000300134:p.Cys355Arg					STAT6_ENST00000556155.1_Missense_Mutation_p.C355R|STAT6_ENST00000543873.2_Missense_Mutation_p.C355R|STAT6_ENST00000538913.2_Missense_Mutation_p.C245R|STAT6_ENST00000537215.2_Missense_Mutation_p.C245R|STAT6_ENST00000454075.3_Missense_Mutation_p.C355R	p.C355R	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			10	1388	-			355					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1063T>C	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.22|15.22	2.769231|2.769231	0.49680|0.49680	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516|ENST00000553533	D;D;D;D;D;D|.	0.87256|.	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23|.	4.79|4.79	3.65|3.65	0.41850|0.41850	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);|.	0.290468|.	0.37437|.	N|.	0.002095|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.32530|0.32530	0.975|0.975	0.53688|0.53688	D|D	0.999977|0.999977	B;P|.	0.50819|.	0.145;0.939|.	B;P|.	0.44732|.	0.032;0.459|.	T|T	0.19192|0.19192	-1.0313|-1.0313	10|5	0.52906|.	T|.	0.07|.	-11.3715|-11.3715	3.9729|3.9729	0.09462|0.09462	0.7198:0.0:0.097:0.1832|0.7198:0.0:0.097:0.1832	.|.	355;355|.	A8K4S9;P42226|.	.;STAT6_HUMAN|.	R|P	355;245;245;355;355;245;355;245;355|55	ENSP00000300134:C355R;ENSP00000445409:C245R;ENSP00000438451:C355R;ENSP00000451742:C355R;ENSP00000444530:C245R;ENSP00000401486:C355R|.	ENSP00000300134:C355R|.	C|L	-|-	1|2	0|0	STAT6|STAT6	55784802|55784802	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.249000|2.249000	0.43169|0.43169	0.866000|0.866000	0.35629|0.35629	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.562	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		39	57	0	0	0	0.840704	0	39	57				
ZBTB44	29068	broad.mit.edu	37	11	130131061	130131061	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:130131061A>G	ENST00000357899.4	-	2	980	c.708T>C	c.(706-708)atT>atC	p.I236I	ZBTB44_ENST00000525842.1_Silent_p.I236I|ZBTB44_ENST00000397753.1_Silent_p.I236I|ZBTB44_ENST00000530205.1_Silent_p.I236I			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCCTTCGATCAATTCCAAAAG	0.428																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(706-708)atT>atC		zinc finger and BTB domain containing 44							66.0	60.0	62.0					11																	130131061		1834	4086	5920	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131061A>G	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.708T>C	11.37:g.130131061A>G						ZBTB44_ENST00000357899.4_Silent_p.I236I|ZBTB44_ENST00000397753.1_Silent_p.I236I|ZBTB44_ENST00000530205.1_Silent_p.I236I	p.I236I	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	1075	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	236					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.708T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.657|6.657	0.489670|0.489670	0.12702|0.12702	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000527478	.|.	.|.	.|.	5.47|5.47	4.33|4.33	0.51752|0.51752	.|.	.|.	.|.	.|.	.|.	T|.	0.63165|.	0.2488|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59904|.	-0.7366|.	4|.	.|.	.|.	.|.	.|.	11.9856|11.9856	0.53145|0.53145	0.8704:0.0:0.0:0.1296|0.8704:0.0:0.0:0.1296	.|.	.|.	.|.	.|.	S|R	90|233	.|.	.|.	L|X	-|-	2|1	0|0	ZBTB44|ZBTB44	129636271|129636271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.238000|3.238000	0.51352|0.51352	0.869000|0.869000	0.35703|0.35703	0.460000|0.460000	0.39030|0.39030	TTG|TGA		0.428	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		39	66	0	0	0	0.796494	0	39	66				
ENG	2022	broad.mit.edu	37	9	130579468	130579468	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:130579468A>G	ENST00000373203.4	-	13	2101	c.1701T>C	c.(1699-1701)acT>acC	p.T567T	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Silent_p.T567T|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	567	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCATGAAGACAGTCCTATGGA	0.577									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1699-1701)acT>acC		endoglin							131.0	115.0	120.0					9																	130579468		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130579468A>G	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1701T>C	9.37:g.130579468A>G						ENG_ENST00000373203.4_Silent_p.T567T|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA	p.T567T			P17813	EGLN_HUMAN			13	1981	-			567			Ser/Thr-rich.		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.1701T>C	CCDS48029.1																																																																																				0.577	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			8	12	0	0	0	0.335167	0	8	12				
QSER1	79832	broad.mit.edu	37	11	32953741	32953741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:32953741C>T	ENST00000399302.2	+	4	885	c.550C>T	c.(550-552)Cga>Tga	p.R184*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	184	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCTCTTCTTCGAGAATGTAG	0.453																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(550-552)Cga>Tga		glutamine and serine rich 1							114.0	105.0	108.0					11																	32953741		1888	4112	6000	SO:0001587	stop_gained	79832							g.chr11:32953741C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.550C>T	11.37:g.32953741C>T	ENSP00000382241:p.Arg184*					QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	885	+	Breast(20;0.158)		184			Ser-rich.		Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	c.550C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	37	6.453755	0.97581	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	.	.	.	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000078652:R184X	R	+	1	2	QSER1	32910317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.916000	0.48813	2.579000	0.87056	0.655000	0.94253	CGA		0.453	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		69	153	0	0	0	0.870114	0	69	153				
RANBP2	5903	broad.mit.edu	37	2	109371408	109371408	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:109371408G>A	ENST00000283195.6	+	16	2376	c.2250G>A	c.(2248-2250)atG>atA	p.M750I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	750					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCAGTCATGCAGGAACTCG	0.373																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2248-2250)atG>atA		RAN binding protein 2							93.0	98.0	96.0					2																	109371408		2199	4282	6481	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371408G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2250G>A	2.37:g.109371408G>A	ENSP00000283195:p.Met750Ile						p.M750I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2376	+			750					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2250G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.456817	0.43634	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.21543	2.0	5.77	5.77	0.91146	.	.	.	.	.	T	0.15739	0.0379	N	0.17082	0.46	0.27078	N	0.963166	B	0.18863	0.031	B	0.10450	0.005	T	0.11690	-1.0577	9	0.27082	T	0.32	-10.0738	16.4687	0.84094	0.0:0.1397:0.8603:0.0	.	750	P49792	RBP2_HUMAN	I	750	ENSP00000283195:M750I	ENSP00000283195:M750I	M	+	3	0	RANBP2	108737840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.702000	0.37836	2.716000	0.92895	0.542000	0.68232	ATG		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		161	336	0	0	0	0.870114	0	161	336				
TMCC1	23023	broad.mit.edu	37	3	129546961	129546961	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:129546961G>A	ENST00000393238.3	-	3	601	c.261C>T	c.(259-261)aaC>aaT	p.N87N	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	87						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCACATGCGTTCTGGCTTT	0.532																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(259-261)aaC>aaT		transmembrane and coiled-coil domain family 1							90.0	75.0	80.0					3																	129546961		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129546961G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.261C>T	3.37:g.129546961G>A						TMCC1_ENST00000426664.2_Intron	p.N87N	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	601	-			87					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.261C>T	CCDS33855.1																																																																																				0.532	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		16	107	0	0	0	0.500413	0	16	107				
COL14A1	7373	broad.mit.edu	37	8	121216054	121216054	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:121216054G>C	ENST00000297848.3	+	9	1254	c.984G>C	c.(982-984)gaG>gaC	p.E328D	COL14A1_ENST00000537875.1_Missense_Mutation_p.E328D|COL14A1_ENST00000309791.4_Missense_Mutation_p.E328D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E233D|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGTTGTGGAGAGTCTGACCA	0.468																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(982-984)gaG>gaC		collagen, type XIV, alpha 1							121.0	103.0	109.0					8																	121216054		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216054G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.984G>C	8.37:g.121216054G>C	ENSP00000297848:p.Glu328Asp					COL14A1_ENST00000247781.3_Missense_Mutation_p.E233D|COL14A1_ENST00000309791.4_Missense_Mutation_p.E328D|COL14A1_ENST00000537875.1_Missense_Mutation_p.E328D|COL14A1_ENST00000432943.2_3'UTR	p.E328D	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1254	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		328			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.984G>C	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.422|3.422	-0.118020|-0.118020	0.06838|0.06838	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T;T|T	0.76709|0.53423	-1.04;-1.04;-1.04;0.71;0.71|0.62	5.21|5.21	2.33|2.33	0.28932|0.28932	von Willebrand factor, type A (3);|.	0.105111|0.105111	0.64402|0.64402	N|D	0.000006|0.000006	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.05414|0.05414	-0.055|-0.055	0.36162|0.36162	D|D	0.848194|0.848194	B;B|.	0.15719|.	0.001;0.014|.	B;B|.	0.17098|.	0.008;0.017|.	T|T	0.18618|0.18618	-1.0331|-1.0331	10|8	0.22109|0.28530	T|T	0.4|0.3	.|.	7.2802|7.2802	0.26308|0.26308	0.2154:0.1305:0.654:0.0|0.2154:0.1305:0.654:0.0	.|.	328;328|.	Q05707-2;Q05707|.	.;COEA1_HUMAN|.	D|Q	328;328;328;233;141|85	ENSP00000443974:E328D;ENSP00000311809:E328D;ENSP00000297848:E328D;ENSP00000247781:E233D;ENSP00000409461:E141D|ENSP00000429123:E85Q	ENSP00000247781:E233D|ENSP00000429123:E85Q	E|E	+|+	3|1	2|0	COL14A1|COL14A1	121285235|121285235	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	0.552000|0.552000	0.23376|0.23376	0.744000|0.744000	0.32741|0.32741	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		18	35	0	0	0	0.624587	0	18	35				
PLCB3	5331	broad.mit.edu	37	11	64024202	64024202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64024202C>A	ENST00000540288.1	+	10	1081	c.978C>A	c.(976-978)taC>taA	p.Y326*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Y326*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Y259*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	326	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGAGTGCCTACTTCATCAACT	0.607																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(976-978)taC>taA		phospholipase C, beta 3 (phosphatidylinositol-specific)							189.0	147.0	161.0					11																	64024202		2201	4297	6498	SO:0001587	stop_gained	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64024202C>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.978C>A	11.37:g.64024202C>A	ENSP00000443631:p.Tyr326*					PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Y326*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Y259*	p.Y326*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			10	1081	+			326			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	37	c.978C>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208972	0.95069	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.86	-1.78	0.07957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6634	0.45714	0.0:0.5514:0.0:0.4486	.	.	.	.	X	326;326;259	.	ENSP00000279230:Y326X	Y	+	3	2	PLCB3	63780778	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	0.875000	0.28079	-0.280000	0.09154	0.561000	0.74099	TAC		0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			29	56	1	0	3.33393e-15	0.804634	3.56298e-15	29	56				
MCTP1	79772	broad.mit.edu	37	5	94253679	94253679	+	Splice_Site	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:94253679C>T	ENST00000515393.1	-	8	1272		c.e8-1		MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCGCACGTCTGGATGGAAA	0.438																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.e8-1		multiple C2 domains, transmembrane 1							62.0	65.0	64.0					5																	94253679		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94253679C>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1273-1G>A	5.37:g.94253679C>T						MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000505078.1_Intron		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	8	1272	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)						Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	SNP	ENST00000515393.1	37		CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979664	0.34942	.	.	ENSG00000175471	ENST00000515393;ENST00000312216;ENST00000512425;ENST00000505208	.	.	.	5.14	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7195	0.46032	0.1899:0.8101:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCTP1	94279435	1.000000	0.71417	0.998000	0.56505	0.442000	0.32017	1.392000	0.34486	1.353000	0.45828	0.655000	0.94253	.		0.438	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Intron	24	53	0	0	0	0.760397	0	24	53				
ISY1	57461	broad.mit.edu	37	3	128864606	128864606	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:128864606C>T	ENST00000393295.3	-	6	615	c.298G>A	c.(298-300)Gga>Aga	p.G100R	ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393292.3_Missense_Mutation_p.G100R|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.G100R|ISY1_ENST00000273541.8_Missense_Mutation_p.G100R	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	100					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GTACTCACTCCATAATCAGGA	0.488																																						ENST00000418265.1																			0											c.(298-300)Gga>Aga									101.0	103.0	103.0					3																	128864606		1974	4171	6145	SO:0001583	missense	100534599					catalytic step 2 spliceosome		g.chr3:128864606C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.298G>A	3.37:g.128864606C>T	ENSP00000376973:p.Gly100Arg					ISY1_ENST00000393292.3_Missense_Mutation_p.G100R|ISY1_ENST00000393295.3_Missense_Mutation_p.G100R|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.G100R	p.G100R	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN			6	358	-			100					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.298G>A	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	5.238	0.229454	0.09916	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.27402	1.67	5.31	5.31	0.75309	.	0.329198	0.35585	N	0.003115	T	0.12050	0.0293	N	0.01277	-0.915	0.39098	D	0.961234	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.20538	-1.0272	10	0.11794	T	0.64	.	16.4891	0.84195	0.0:1.0:0.0:0.0	.	100;100;100	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	R	100;100;100;38;100	ENSP00000273541:G100R	ENSP00000273541:G100R	G	-	1	0	ISY1	130347296	0.999000	0.42202	0.904000	0.35570	0.393000	0.30537	2.713000	0.47194	2.482000	0.83794	0.591000	0.81541	GGA		0.488	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		5	94	0	0	0	0.217242	0	5	94				
MYH8	4626	broad.mit.edu	37	17	10299971	10299971	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:10299971T>C	ENST00000403437.2	-	32	4521	c.4427A>G	c.(4426-4428)gAg>gGg	p.E1476G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1476					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAACGTGACTCCTTCTGGGA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4426-4428)gAg>gGg		myosin, heavy chain 8, skeletal muscle, perinatal							101.0	103.0	103.0					17																	10299971		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299971T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4427A>G	17.37:g.10299971T>C	ENSP00000384330:p.Glu1476Gly					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1476G	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			32	4521	-			1476					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4427A>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813594	0.70912	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86694	-2.16	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.42172	U	0.000755	D	0.93766	0.8007	H	0.97131	3.945	0.58432	D	0.999997	P	0.41345	0.746	P	0.47827	0.558	D	0.95430	0.8515	10	0.87932	D	0	.	15.3476	0.74350	0.0:0.0:0.0:1.0	.	1476	P13535	MYH8_HUMAN	G	1476	ENSP00000384330:E1476G	ENSP00000252173:E1476G	E	-	2	0	MYH8	10240696	1.000000	0.71417	0.999000	0.59377	0.425000	0.31504	7.738000	0.84966	2.215000	0.71742	0.528000	0.53228	GAG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		55	97	0	0	0	0.870114	0	55	97				
ZNF354A	6940	broad.mit.edu	37	5	178139363	178139363	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:178139363T>A	ENST00000335815.2	-	5	1713	c.1516A>T	c.(1516-1518)Aac>Tac	p.N506Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	506					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		AGTGATGAGTTACACCTGAAT	0.398																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1516-1518)Aac>Tac		zinc finger protein 354A							119.0	116.0	117.0					5																	178139363		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139363T>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1516A>T	5.37:g.178139363T>A	ENSP00000337122:p.Asn506Tyr						p.N506Y	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1713	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	506					Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1516A>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	T	2.862	-0.235905	0.05944	.	.	ENSG00000169131	ENST00000335815	T	0.01051	5.4	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003041	T	0.04003	0.0112	L	0.41710	1.295	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.31223	-0.9951	10	0.62326	D	0.03	-15.8272	13.1647	0.59565	0.0:0.0:0.0:1.0	.	506	O60765	Z354A_HUMAN	Y	506	ENSP00000337122:N506Y	ENSP00000337122:N506Y	N	-	1	0	ZNF354A	178071969	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-0.142000	0.10311	2.210000	0.71456	0.528000	0.53228	AAC		0.398	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		90	178	0	0	0	0.870114	0	90	178				
GPR180	160897	broad.mit.edu	37	13	95264569	95264569	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:95264569A>G	ENST00000376958.4	+	3	455	c.430A>G	c.(430-432)Atc>Gtc	p.I144V		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	144					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGTGGAAGATATCCCATTTGA	0.403																																						ENST00000376958.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.(430-432)Atc>Gtc		G protein-coupled receptor 180							146.0	133.0	138.0					13																	95264569		2203	4300	6503	SO:0001583	missense	160897					integral to membrane		g.chr13:95264569A>G	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.430A>G	13.37:g.95264569A>G	ENSP00000366157:p.Ile144Val						p.I144V	NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN			3	455	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		144					A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.430A>G	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086349	0.36855	.	.	ENSG00000152749	ENST00000376958	T	0.45668	0.89	5.28	2.83	0.33086	Rhodopsin-like GPCR transmembrane domain (1);	0.217712	0.47455	N	0.000240	T	0.36193	0.0958	M	0.66939	2.045	0.44890	D	0.9979	B	0.10296	0.003	B	0.12156	0.007	T	0.11567	-1.0582	10	0.17832	T	0.49	-8.9319	8.1507	0.31139	0.7779:0.0:0.2221:0.0	.	144	Q86V85	GP180_HUMAN	V	144	ENSP00000366157:I144V	ENSP00000366157:I144V	I	+	1	0	GPR180	94062570	0.985000	0.35326	0.957000	0.39632	0.994000	0.84299	1.052000	0.30429	0.405000	0.25532	0.528000	0.53228	ATC		0.403	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		71	172	0	0	0	0.870114	0	71	172				
ATRNL1	26033	broad.mit.edu	37	10	117093811	117093811	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:117093811T>C	ENST00000355044.3	+	19	3183	c.3057T>C	c.(3055-3057)caT>caC	p.H1019H	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1019	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTAATGGACATAGCACTTGCA	0.338																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3055-3057)caT>caC		attractin-like 1							110.0	97.0	102.0					10																	117093811		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117093811T>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3057T>C	10.37:g.117093811T>C						ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	p.H1019H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	19	3183	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1019			Laminin EGF-like 1.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3057T>C	CCDS7592.1																																																																																				0.338	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		45	74	0	0	0	0.859065	0	45	74				
TP53I3	9540	broad.mit.edu	37	2	24305872	24305872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:24305872G>A	ENST00000238721.4	-	2	1143	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TP53I3_ENST00000313482.4_Nonsense_Mutation_p.Q97*|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Nonsense_Mutation_p.Q97*|TP53I3_ENST00000335934.4_Nonsense_Mutation_p.Q97*|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	97					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGACGTACTGAGCCTGGCCC	0.652																																						ENST00000238721.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(289-291)Cag>Tag		tumor protein p53 inducible protein 3							56.0	57.0	57.0					2																	24305872		2203	4300	6503	SO:0001587	stop_gained	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24305872G>A	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.289C>T	2.37:g.24305872G>A	ENSP00000238721:p.Gln97*					TP53I3_ENST00000313482.4_Nonsense_Mutation_p.Q97*|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Nonsense_Mutation_p.Q97*|TP53I3_ENST00000335934.4_Nonsense_Mutation_p.Q97*	p.Q97*	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN			2	1143	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		97					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Nonsense_Mutation	SNP	ENST00000238721.4	37	c.289C>T	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486631	0.84854	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	.	.	.	4.62	3.67	0.42095	.	0.056386	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.264	13.3863	0.60797	0.0:0.3062:0.6938:0.0	.	.	.	.	X	97;97;97;97;92	.	ENSP00000238721:Q97X	Q	-	1	0	TP53I3	24159376	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.128000	0.50492	2.277000	0.76020	0.655000	0.94253	CAG		0.652	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		29	59	0	0	0	0.729181	0	29	59				
CAGE1	285782	broad.mit.edu	37	6	7334269	7334269	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:7334269T>C	ENST00000512086.1	-	10	2440	c.2238A>G	c.(2236-2238)aaA>aaG	p.K746K	CAGE1_ENST00000502583.1_Silent_p.K808K|CAGE1_ENST00000379918.4_Silent_p.K786K|SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000296742.7_Silent_p.K610K|CAGE1_ENST00000338150.4_Silent_p.K773K			Q8TC20	CAGE1_HUMAN	cancer antigen 1	746										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTTTTCTGGCTTTTTCTCTGG	0.323																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(2422-2424)aaA>aaG		cancer antigen 1							48.0	42.0	44.0					6																	7334269		1761	3987	5748	SO:0001819	synonymous_variant	285782							g.chr6:7334269T>C	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2238A>G	6.37:g.7334269T>C						SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000512086.1_Silent_p.K746K|CAGE1_ENST00000379918.4_Silent_p.K786K|CAGE1_ENST00000338150.4_Silent_p.K773K|CAGE1_ENST00000296742.7_Silent_p.K610K	p.K808K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			12	2988	-	Ovarian(93;0.0418)		746					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37	c.2424A>G																																																																																					0.323	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		6	5	0	0	0	0.217242	0	6	5				
ZNF586	54807	broad.mit.edu	37	19	58290702	58290702	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:58290702T>C	ENST00000396154.2	+	3	920	c.747T>C	c.(745-747)ctT>ctC	p.L249L	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000391702.3_Silent_p.L206L|ZNF586_ENST00000396150.4_Missense_Mutation_p.L207S	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCCAGTCTTATTAAACACT	0.438																																						ENST00000396150.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(619-621)tTa>tCa		zinc finger protein 586							83.0	90.0	88.0					19																	58290702		2196	4298	6494	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290702T>C	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.747T>C	19.37:g.58290702T>C						ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Silent_p.L249L|ZNF586_ENST00000391702.3_Silent_p.L206L|ZNF586_ENST00000598885.1_Intron	p.L207S	NM_001077426.2	NP_001070894.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	767	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	0					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.620T>C	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	T	9.271	1.045741	0.19748	.	.	ENSG00000083828	ENST00000396150	T	0.36157	1.27	1.65	-1.76	0.08006	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.22880	N	0.998614	P	0.42375	0.778	P	0.45167	0.472	T	0.10965	-1.0607	8	0.02654	T	1	.	3.6858	0.08327	0.0:0.3098:0.194:0.4962	.	207	A0JLV8	.	S	207	ENSP00000379454:L207S	ENSP00000379454:L207S	L	+	2	0	ZNF586	62982514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.112000	0.00150	-0.699000	0.05077	-0.408000	0.06270	TTA		0.438	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		56	98	0	0	0	0.870114	0	56	98				
SELPLG	6404	broad.mit.edu	37	12	109017315	109017315	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:109017315C>G	ENST00000550948.1	-	2	993	c.769G>C	c.(769-771)Gca>Cca	p.A257P	SELPLG_ENST00000388962.3_Missense_Mutation_p.A247P|SELPLG_ENST00000228463.6_Missense_Mutation_p.A273P			Q14242	SELPL_HUMAN	selectin P ligand	257	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TCCATGGCTGCCAGTGGAGTG	0.582																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(739-741)Gca>Cca		selectin P ligand							134.0	114.0	121.0					12																	109017315		2203	4300	6503	SO:0001583	missense	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017315C>G		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.769G>C	12.37:g.109017315C>G	ENSP00000447752:p.Ala257Pro					SELPLG_ENST00000228463.6_Missense_Mutation_p.A273P|SELPLG_ENST00000550948.1_Missense_Mutation_p.A257P	p.A247P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			3	898	-			257			12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.739G>C	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736025	0.30774	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.32272	1.46;1.46;1.46	3.29	-6.58	0.01836	.	.	.	.	.	T	0.16514	0.0397	N	0.22421	0.69	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.17433	0.018;0.018;0.012	T	0.23404	-1.0189	9	0.27082	T	0.32	0.0052	9.5082	0.39060	0.0:0.1362:0.1136:0.7501	.	273;257;217	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	P	247;257;273	ENSP00000373614:A247P;ENSP00000447752:A257P;ENSP00000228463:A273P	ENSP00000228463:A273P	A	-	1	0	SELPLG	107541444	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.139000	0.00587	-1.985000	0.00984	-1.058000	0.02302	GCA		0.582	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			33	43	0	0	0	0.870114	0	33	43				
KPNB1	3837	broad.mit.edu	37	17	45757396	45757396	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:45757396G>A	ENST00000290158.4	+	20	2771	c.2364G>A	c.(2362-2364)atG>atA	p.M788I	RP11-138C9.1_ENST00000578482.1_RNA|KPNB1_ENST00000535458.2_Missense_Mutation_p.M643I|KPNB1_ENST00000537679.1_Missense_Mutation_p.M572I|KPNB1_ENST00000540627.1_Missense_Mutation_p.M643I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	788					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CGGATGTGATGCTGGTACAAC	0.493																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2362-2364)atG>atA		karyopherin (importin) beta 1							171.0	178.0	176.0					17																	45757396		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45757396G>A	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2364G>A	17.37:g.45757396G>A	ENSP00000290158:p.Met788Ile					KPNB1_ENST00000540627.1_Missense_Mutation_p.M643I|KPNB1_ENST00000537679.1_Missense_Mutation_p.M572I|KPNB1_ENST00000535458.2_Missense_Mutation_p.M643I	p.M788I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			20	2771	+			788					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2364G>A	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107190	0.56291	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.34521	1.04	0.41847	D	0.990152	B;B	0.23806	0.091;0.02	B;B	0.20767	0.031;0.008	T	0.57780	-0.7752	9	0.35671	T	0.21	-12.8366	19.2156	0.93776	0.0:0.0:1.0:0.0	.	572;788	F5H4R7;Q14974	.;IMB1_HUMAN	I	643;788;643;572	ENSP00000438253:M643I;ENSP00000290158:M788I;ENSP00000438964:M643I;ENSP00000445006:M572I	ENSP00000290158:M788I	M	+	3	0	KPNB1	43112395	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.576000	0.98192	2.558000	0.86282	0.563000	0.77884	ATG		0.493	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		78	129	0	0	0	0.870114	0	78	129				
SMC6	79677	broad.mit.edu	37	2	17902257	17902257	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:17902257T>G	ENST00000448223.2	-	11	1164	c.895A>C	c.(895-897)Att>Ctt	p.I299L	SMC6_ENST00000402989.1_Missense_Mutation_p.I299L|SMC6_ENST00000351948.4_Missense_Mutation_p.I299L|SMC6_ENST00000381272.4_Missense_Mutation_p.I325L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	299					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTCTCCAATTTTGATATTA	0.289																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(895-897)Att>Ctt		structural maintenance of chromosomes 6							91.0	94.0	93.0					2																	17902257		2203	4298	6501	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17902257T>G	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.895A>C	2.37:g.17902257T>G	ENSP00000404092:p.Ile299Leu					SMC6_ENST00000351948.4_Missense_Mutation_p.I299L|SMC6_ENST00000381272.4_Missense_Mutation_p.I325L|SMC6_ENST00000402989.1_Missense_Mutation_p.I299L	p.I299L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			11	1164	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		299					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.895A>C	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911014	0.33721	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.73	3.43	0.39272	RecF/RecN/SMC (1);	0.329961	0.31636	N	0.007312	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	1	B;B;B	0.21821	0.061;0.024;0.027	B;B;B	0.25759	0.028;0.022;0.063	T	0.36672	-0.9738	10	0.27785	T	0.31	.	3.0008	0.06012	0.1845:0.2231:0.0:0.5924	.	325;325;299	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	L	299;299;325;299;325	ENSP00000404092:I299L;ENSP00000323439:I299L;ENSP00000370672:I325L;ENSP00000384539:I299L;ENSP00000408644:I325L	ENSP00000323439:I299L	I	-	1	0	SMC6	17765738	0.095000	0.21747	1.000000	0.80357	0.994000	0.84299	0.375000	0.20518	2.197000	0.70478	0.533000	0.62120	ATT		0.289	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		8	169	0	0	0	0.335167	0	8	169				
MMEL1	79258	broad.mit.edu	37	1	2524327	2524327	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:2524327T>C	ENST00000378412.3	-	20	2107	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	MMEL1_ENST00000502556.1_Missense_Mutation_p.E492G|MMEL1_ENST00000288709.6_Missense_Mutation_p.E640G			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	649						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GATCATGCACTCTGACTGCTC	0.612																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1918-1920)gAg>gGg		membrane metallo-endopeptidase-like 1							132.0	104.0	114.0					1																	2524327		2202	4300	6502	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524327T>C	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1946A>G	1.37:g.2524327T>C	ENSP00000367668:p.Glu649Gly					MMEL1_ENST00000378412.3_Missense_Mutation_p.E649G|MMEL1_ENST00000502556.1_Missense_Mutation_p.E492G	p.E640G	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	20	2159	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	649					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1919A>G	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806077	0.31961	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83250	-1.7;-1.7;-1.7	4.76	3.61	0.41365	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.639093	0.16427	N	0.214902	T	0.71525	0.3350	N	0.20766	0.605	0.27791	N	0.942829	P	0.45768	0.866	P	0.46208	0.507	T	0.66312	-0.5955	10	0.87932	D	0	-26.453	1.7739	0.03017	0.1694:0.0906:0.1768:0.5632	.	649	Q495T6	MMEL1_HUMAN	G	492;640;649;492	ENSP00000288709:E640G;ENSP00000367668:E649G;ENSP00000422492:E492G	ENSP00000288709:E640G	E	-	2	0	MMEL1	2514187	0.697000	0.27767	0.474000	0.27266	0.120000	0.20174	1.935000	0.40173	0.821000	0.34540	-0.313000	0.08912	GAG		0.612	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		29	24	0	0	0	0.760397	0	29	24				
SOAT1	6646	broad.mit.edu	37	1	179316774	179316774	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:179316774A>G	ENST00000367619.3	+	12	1300	c.1157A>G	c.(1156-1158)cAc>cGc	p.H386R	SOAT1_ENST00000535686.1_Missense_Mutation_p.H122R|SOAT1_ENST00000539888.1_Missense_Mutation_p.H321R|SOAT1_ENST00000540564.1_Missense_Mutation_p.H328R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	386					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCCTTTTTGCACTGCTGGCTC	0.338																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1156-1158)cAc>cGc		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						234.0	207.0	216.0					1																	179316774		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179316774A>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1157A>G	1.37:g.179316774A>G	ENSP00000356591:p.His386Arg					SOAT1_ENST00000539888.1_Missense_Mutation_p.H321R|SOAT1_ENST00000535686.1_Missense_Mutation_p.H122R|SOAT1_ENST00000540564.1_Missense_Mutation_p.H328R	p.H386R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			12	1300	+			386					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1157A>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.223451	0.79464	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.81	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89997	0.4112	10	0.87932	D	0	-13.5365	9.8064	0.40795	0.9195:0.0:0.0805:0.0	.	328;386	A8K3P4;P35610	.;SOAT1_HUMAN	R	321;328;122;386	ENSP00000441356:H321R;ENSP00000445315:H328R;ENSP00000442503:H122R;ENSP00000356591:H386R	ENSP00000356591:H386R	H	+	2	0	SOAT1	177583397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.210000	0.95106	1.039000	0.40074	0.482000	0.46254	CAC		0.338	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		53	128	0	0	0	0.870114	0	53	128				
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1783-1785)aaA>aaG		collagen, type IV, alpha 4							126.0	126.0	126.0					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945177T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C						COL4A4_ENST00000329662.7_Silent_p.K595K	p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	1992	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	595			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1785A>G	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		4	277	0	0	0	0.150653	0	4	277				
NGF	4803	broad.mit.edu	37	1	115829215	115829215	+	Missense_Mutation	SNP	G	G	A	rs572066909		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:115829215G>A	ENST00000369512.2	-	3	370	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	68					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GTAATGTTGCGGGTCTGCCCC	0.622													G|||	0	0.0	0.0	0.0	5008	,	,		15544	0.0		0.0	False		,,,				2504	0.0					ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(202-204)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						42.0	44.0	43.0					1																	115829215		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829215G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.202C>T	1.37:g.115829215G>A	ENSP00000358525:p.Arg68Cys					RP4-663N10.1_ENST00000425449.1_RNA	p.R68C	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	370	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	68					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.202C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172074	0.21704	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.06	0.274	0.15654	.	0.766887	0.13020	N	0.420138	T	0.27629	0.0679	L	0.47716	1.5	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.41790	T	0.15	-4.6397	3.9972	0.09564	0.2842:0.0:0.4425:0.2732	.	68	P01138	NGF_HUMAN	C	68	ENSP00000358525:R68C	ENSP00000358525:R68C	R	-	1	0	NGF	115630738	0.000000	0.05858	0.990000	0.47175	0.786000	0.44442	-0.141000	0.10327	0.222000	0.20900	-0.363000	0.07495	CGC		0.622	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		15	17	0	0	0	0.539581	0	15	17				
CNST	163882	broad.mit.edu	37	1	246810501	246810501	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:246810501T>C	ENST00000366513.4	+	9	1267	c.998T>C	c.(997-999)cTg>cCg	p.L333P	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L333P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	333					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GTGGAGCCCCTGGGGAGCAGT	0.458											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(997-999)cTg>cCg		consortin, connexin sorting protein							78.0	81.0	80.0					1																	246810501		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810501T>C	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.998T>C	1.37:g.246810501T>C	ENSP00000355470:p.Leu333Pro		OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L333P	p.L333P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1267	+			333					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.998T>C	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	T	4.979	0.181875	0.09495	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.18016	2.25;2.24	5.12	-10.2	0.00374	.	2.798100	0.01171	N	0.006870	T	0.09379	0.0231	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.29766	0.168;0.256	B;B	0.28139	0.058;0.086	T	0.16808	-1.0390	10	0.23891	T	0.37	0.017	0.2429	0.00194	0.2057:0.1878:0.2885:0.318	.	333;333	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	P	333	ENSP00000355470:L333P;ENSP00000355469:L333P	ENSP00000355469:L333P	L	+	2	0	CNST	244877124	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.897000	0.04110	-4.586000	0.00041	0.383000	0.25322	CTG		0.458	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		53	114	0	0	0	0.870114	0	53	114				
MAST4	375449	broad.mit.edu	37	5	66386058	66386058	+	Splice_Site	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:66386058A>T	ENST00000403625.2	+	6	1127	c.832A>T	c.(832-834)Agg>Tgg	p.R278W	MAST4_ENST00000405643.1_Splice_Site_p.R96*|MAST4_ENST00000490016.2_Splice_Site_p.R89W|MAST4_ENST00000261569.7_Splice_Site_p.R84W|MAST4_ENST00000403666.1_Splice_Site_p.R89W|MAST4_ENST00000404260.3_Splice_Site_p.S278C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	281						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTTGCACGGAGGTAAGGACT	0.468																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.e6+1		microtubule associated serine/threonine kinase family member 4							72.0	67.0	68.0					5																	66386058		1857	4097	5954	SO:0001630	splice_region_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66386058A>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.833+1A>T	5.37:g.66386058A>T						MAST4_ENST00000490016.2_Splice_Site_p.R89_splice|MAST4_ENST00000405643.1_Splice_Site_p.R96_splice|MAST4_ENST00000261569.7_Splice_Site_p.R84_splice|MAST4_ENST00000403625.2_Splice_Site_p.R278_splice|MAST4_ENST00000403666.1_Splice_Site_p.R89_splice	p.S278_splice			O15021	MAST4_HUMAN		Lung(70;0.011)	6	1140	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	278					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Splice_Site	SNP	ENST00000403625.2	37	c.833_splice	CCDS54861.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	a|a|a	34|34|34	5.387086|5.387086|5.387086	0.95988|0.95988|0.95988	.|.|.	.|.|.	ENSG00000069020|ENSG00000069020|ENSG00000069020	ENST00000403625;ENST00000490016;ENST00000403666;ENST00000261569;ENST00000436277;ENST00000432399|ENST00000405643|ENST00000404260;ENST00000380908	T;T;T;T;T|.|T	0.34275|.|0.33216	1.37;1.37;1.37;1.37;1.37|.|1.42	5.82|5.82|5.82	4.66|4.66|4.66	0.58398|0.58398|0.58398	Microtubule-associated serine/threonine-protein kinase, domain (1);|.|.	.|.|0.192978	.|.|0.31821	.|.|U	.|.|0.007016	T|.|T	0.55673|.|0.55673	0.1935|.|0.1935	M|M|M	0.90019|0.90019|0.90019	3.08|3.08|3.08	0.30549|0.30549|0.30549	N|N|N	0.765658|0.765658|0.765658	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;0.999;0.999|.|.	D;D;D;D|.|.	0.91635|.|.	0.999;0.996;0.992;0.991|.|.	T|.|T	0.64931|.|0.64931	-0.6291|.|-0.6291	9|.|8	0.87932|0.54805|0.49607	D|T|T	0|0.06|0.09	-18.2228|-18.2228|-18.2228	13.3795|13.3795|13.3795	0.60759|0.60759|0.60759	0.8686:0.1314:0.0:0.0|0.8686:0.1314:0.0:0.0|0.8686:0.1314:0.0:0.0	.|.|.	281;84;89;89|.|.	O15021;O15021-2;O15021-3;D6RAK1|.|.	MAST4_HUMAN;.;.;.|.|.	W|X|C	278;89;89;84;84;84|96|278;96	ENSP00000385727:R278W;ENSP00000421739:R89W;ENSP00000384313:R89W;ENSP00000261569:R84W;ENSP00000392478:R84W|.|ENSP00000385048:S278C	ENSP00000261569:R84W|ENSP00000384099:R96X|ENSP00000370294:S96C	R|R|S	+|+|+	1|1|1	2|2|0	MAST4|MAST4|MAST4	66421814|66421814|66421814	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.511000|0.511000|0.511000	0.34104|0.34104|0.34104	6.838000|6.838000|6.838000	0.75359|0.75359|0.75359	1.032000|1.032000|1.032000	0.39892|0.39892|0.39892	-0.285000|-0.285000|-0.285000	0.09966|0.09966|0.09966	AGG|AGA|AGT		0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		Missense_Mutation	11	29	0	0	0	0.435327	0	11	29				
ADCY7	113	broad.mit.edu	37	16	50328621	50328621	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:50328621G>C	ENST00000394697.2	+	7	1247	c.907G>C	c.(907-909)Gtg>Ctg	p.V303L	ADCY7_ENST00000537579.1_Missense_Mutation_p.V303L|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.V303L|ADCY7_ENST00000254235.3_Missense_Mutation_p.V303L|ADCY7_ENST00000566433.2_Missense_Mutation_p.V303L			P51828	ADCY7_HUMAN	adenylate cyclase 7	303	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCTGGTGGTGGTGCTGAATGA	0.617																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(907-909)Gtg>Ctg		adenylate cyclase 7	Bromocriptine(DB01200)						78.0	57.0	64.0					16																	50328621		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50328621G>C	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.907G>C	16.37:g.50328621G>C	ENSP00000378187:p.Val303Leu					ADCY7_ENST00000566433.2_Missense_Mutation_p.V303L|ADCY7_ENST00000254235.3_Missense_Mutation_p.V303L|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.V303L|ADCY7_ENST00000537579.1_Missense_Mutation_p.V303L	p.V303L			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	7	1247	+		all_cancers(37;0.0127)	303			Guanylate cyclase 1.		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.907G>C	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342785	0.24339	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.33	-0.784	0.10954	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.172150	0.26140	U	0.026104	T	0.45796	0.1360	N	0.03194	-0.395	0.32085	N	0.592662	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.013	T	0.50074	-0.8870	10	0.02654	T	1	.	8.7152	0.34408	0.7165:0.0:0.2835:0.0	.	303;303	P51828;F5H4D1	ADCY7_HUMAN;.	L	303	ENSP00000445046:V303L;ENSP00000378187:V303L;ENSP00000437788:V303L;ENSP00000254235:V303L	ENSP00000254235:V303L	V	+	1	0	ADCY7	48886122	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	2.594000	0.46189	0.006000	0.14734	0.655000	0.94253	GTG		0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			11	17	0	0	0	0.435327	0	11	17				
ZFHX3	463	broad.mit.edu	37	16	72845484	72845484	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:72845484T>C	ENST00000268489.5	-	7	4528	c.3856A>G	c.(3856-3858)Att>Gtt	p.I1286V	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.I372V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1286					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCGTCATAATGAGCTTCTCC	0.552																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3856-3858)Att>Gtt		zinc finger homeobox 3							50.0	46.0	47.0					16																	72845484		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845484T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3856A>G	16.37:g.72845484T>C	ENSP00000268489:p.Ile1286Val					ZFHX3_ENST00000397992.5_Missense_Mutation_p.I372V	p.I1286V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			7	4528	-		Ovarian(137;0.13)	1286					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3856A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812063	0.50527	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73789	-0.78;-0.73	5.67	5.67	0.87782	.	0.000000	0.50627	D	0.000112	T	0.73931	0.3650	L	0.43923	1.385	0.80722	D	1	P	0.42123	0.771	P	0.45856	0.495	T	0.77054	-0.2730	10	0.72032	D	0.01	.	15.8627	0.79038	0.0:0.0:0.0:1.0	.	1286	Q15911	ZFHX3_HUMAN	V	1286;372	ENSP00000268489:I1286V;ENSP00000438926:I372V	ENSP00000268489:I1286V	I	-	1	0	ZFHX3	71402985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.232000	0.58645	2.281000	0.76405	0.533000	0.62120	ATT		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		17	19	0	0	0	0.592651	0	17	19				
MYO6	4646	broad.mit.edu	37	6	76589611	76589611	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:76589611T>C	ENST00000369977.3	+	21	2291	c.2152T>C	c.(2152-2154)Tac>Cac	p.Y718H	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.Y718H|MYO6_ENST00000369985.4_Missense_Mutation_p.Y718H|MYO6_ENST00000369981.3_Missense_Mutation_p.Y718H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	718	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTACAACATGTACAAAAAGTA	0.383																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2152-2154)Tac>Cac		myosin VI							147.0	137.0	140.0					6																	76589611		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76589611T>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2152T>C	6.37:g.76589611T>C	ENSP00000358994:p.Tyr718His					MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369985.4_Missense_Mutation_p.Y718H|MYO6_ENST00000369975.1_Missense_Mutation_p.Y718H|MYO6_ENST00000369977.3_Missense_Mutation_p.Y718H	p.Y718H			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	21	2431	+		all_hematologic(105;0.189)	718			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2152T>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257028	0.80246	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.98576	1.0648	10	0.87932	D	0	.	15.4949	0.75641	0.0:0.0:0.0:1.0	.	718;718	Q9UM54-2;Q9UM54-1	.;.	H	718	ENSP00000358998:Y718H;ENSP00000359002:Y718H;ENSP00000358994:Y718H;ENSP00000358992:Y718H	ENSP00000358992:Y718H	Y	+	1	0	MYO6	76646331	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.632000	0.83247	2.127000	0.65507	0.533000	0.62120	TAC		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		91	181	0	0	0	0.870114	0	91	181				
IDH3G	3421	broad.mit.edu	37	X	153059774	153059774	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:153059774A>G	ENST00000217901.5	-	1	204	c.8T>C	c.(7-9)cTg>cCg	p.L3P	IDH3G_ENST00000370092.3_Missense_Mutation_p.L3P|SSR4_ENST00000370086.3_5'Flank|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.L3P|SSR4_ENST00000370087.1_5'UTR|SSR4_ENST00000320857.3_5'UTR|SSR4_ENST00000370085.3_5'Flank	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	3					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTACCTTCAGCGCCATGAC	0.687																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(7-9)cTg>cCg		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						9.0	8.0	8.0					X																	153059774		2102	4075	6177	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153059774A>G		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.8T>C	X.37:g.153059774A>G	ENSP00000217901:p.Leu3Pro					IDH3G_ENST00000217901.5_Missense_Mutation_p.L3P|IDH3G_ENST00000370093.1_Missense_Mutation_p.L3P|IDH3G_ENST00000427365.2_5'UTR|SSR4_ENST00000320857.3_5'UTR|SSR4_ENST00000370087.1_5'UTR|IDH3G_ENST00000497043.1_5'UTR	p.L3P	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			1	193	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		3					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.8T>C	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	a	13.99	2.402662	0.42613	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000444450	T;T;T;T	0.66280	-0.2;0.39;-0.19;-0.13	5.22	4.08	0.47627	.	0.538685	0.15927	N	0.237826	T	0.33265	0.0857	N	0.08118	0	0.80722	D	1	P;B	0.37864	0.61;0.38	B;B	0.29440	0.102;0.043	T	0.28554	-1.0040	10	0.62326	D	0.03	.	3.9191	0.09236	0.7929:0.0:0.2071:0.0	.	3;3	E9PDD5;P51553	.;IDH3G_HUMAN	P	3	ENSP00000359110:L3P;ENSP00000217901:L3P;ENSP00000359111:L3P;ENSP00000401862:L3P	ENSP00000217901:L3P	L	-	2	0	IDH3G	152712968	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.999000	0.40806	1.737000	0.51674	0.427000	0.28365	CTG		0.687	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			10	9	0	0	0	0.361761	0	10	9				
CFAP36	112942	broad.mit.edu	37	2	55749245	55749245	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:55749245T>C	ENST00000349456.4	+	2	271	c.123T>C	c.(121-123)gaT>gaC	p.D41D	CCDC104_ENST00000406691.3_Silent_p.D41D|CCDC104_ENST00000403007.3_Silent_p.D41D|CCDC104_ENST00000407816.3_Silent_p.D41D|CCDC104_ENST00000339012.3_Silent_p.D66D			Q96G28	CFA36_HUMAN		41										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGTTTTTGATGATGAAGAAG	0.254																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(121-123)gaT>gaC		coiled-coil domain containing 104							25.0	26.0	26.0					2																	55749245		2148	4240	6388	SO:0001819	synonymous_variant	112942							g.chr2:55749245T>C																												ENST00000349456.4:c.123T>C	2.37:g.55749245T>C						CCDC104_ENST00000339012.3_Silent_p.D66D|CCDC104_ENST00000407816.3_Silent_p.D41D|CCDC104_ENST00000403007.3_Silent_p.D41D|CCDC104_ENST00000406691.3_Silent_p.D41D	p.D41D			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	271	+			41					Q53SF0|Q53ST9|Q6UY34	Silent	SNP	ENST00000349456.4	37	c.123T>C	CCDS1854.2																																																																																				0.254	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			17	46	0	0	0	0.520397	0	17	46				
SYNGR3	9143	broad.mit.edu	37	16	2043042	2043042	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:2043042G>A	ENST00000248121.2	+	4	817	c.659G>A	c.(658-660)aGc>aAc	p.S220N	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	220					positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CTGGACACCAGCCCCAAAGGG	0.711																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(658-660)aGc>aAc		synaptogyrin 3							24.0	23.0	24.0					16																	2043042		2185	4295	6480	SO:0001583	missense	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2043042G>A	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.659G>A	16.37:g.2043042G>A	ENSP00000248121:p.Ser220Asn					SYNGR3_ENST00000562045.1_3'UTR	p.S220N	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN			4	817	+			220					B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.659G>A	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	g	8.038	0.763265	0.15914	.	.	ENSG00000127561	ENST00000248121	T	0.14266	2.52	3.49	1.47	0.22746	.	0.460625	0.21566	N	0.072490	T	0.08447	0.0210	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	10	0.21540	T	0.41	.	7.084	0.25247	0.3383:0.0:0.6617:0.0	.	220	O43761	SNG3_HUMAN	N	220	ENSP00000248121:S220N	ENSP00000248121:S220N	S	+	2	0	SYNGR3	1983043	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.300000	0.43620	0.187000	0.20147	0.462000	0.41574	AGC		0.711	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			8	14	0	0	0	0.307466	0	8	14				
SLC12A8	84561	broad.mit.edu	37	3	124930170	124930170	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:124930170C>T	ENST00000393469.4	-	1	73	c.24G>A	c.(22-24)caG>caA	p.Q8Q	SLC12A8_ENST00000469902.1_Silent_p.Q8Q|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	8					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGAAGAGCTCCTGCACCTGGG	0.602																																						ENST00000393469.4																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(22-24)caG>caA		solute carrier family 12, member 8							144.0	148.0	147.0					3																	124930170		2083	4206	6289	SO:0001819	synonymous_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124930170C>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.24G>A	3.37:g.124930170C>T						SLC12A8_ENST00000469902.1_Silent_p.Q8Q|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000314584.7_5'UTR	p.Q8Q	NM_001195483.1	NP_001182412.1	A0AV02	S12A8_HUMAN			1	73	-			8					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.24G>A	CCDS43143.1																																																																																				0.602	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		6	248	0	0	0	0.248553	0	6	248				
ZFHX4	79776	broad.mit.edu	37	8	77617102	77617102	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:77617102T>C	ENST00000521891.2	+	2	1227	c.779T>C	c.(778-780)gTg>gCg	p.V260A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V260A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V260A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V260A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTAACAATGTGGACTTGTCC	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(778-780)gTg>gCg		zinc finger homeobox 4							193.0	189.0	190.0					8																	77617102		2116	4271	6387	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617102T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.779T>C	8.37:g.77617102T>C	ENSP00000430497:p.Val260Ala	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.V260A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V260A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V260A|ZFHX4_ENST00000517683.1_Intron	p.V260A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1227	+			260					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.779T>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357516	0.24598	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.47;0.5;0.47;0.46	5.43	5.43	0.79202	.	0.000000	0.40064	U	0.001196	T	0.70046	0.3179	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.71674	0.994;0.996;0.996;0.998	D;D;D;D	0.77557	0.97;0.987;0.987;0.99	T	0.69847	-0.5034	10	0.41790	T	0.15	.	15.6454	0.77046	0.0:0.0:0.0:1.0	.	260;260;260;260	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	A	260	ENSP00000430497:V260A;ENSP00000399605:V260A;ENSP00000050961:V260A;ENSP00000430848:V260A	ENSP00000050961:V260A	V	+	2	0	ZFHX4	77779657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.525000	0.81892	2.279000	0.76181	0.533000	0.62120	GTG		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		35	71	0	0	0	0.796494	0	35	71				
ZNF234	10780	broad.mit.edu	37	19	44661005	44661005	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:44661005A>G	ENST00000426739.2	+	6	1094	c.836A>G	c.(835-837)cAg>cGg	p.Q279R	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q279R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CAGGAACATCAGAGAATTCAT	0.413																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(835-837)cAg>cGg		zinc finger protein 234							128.0	136.0	133.0					19																	44661005		2195	4298	6493	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661005A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.836A>G	19.37:g.44661005A>G	ENSP00000400878:p.Gln279Arg					ZNF234_ENST00000592437.1_Missense_Mutation_p.Q279R	p.Q279R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1094	+		Prostate(69;0.0435)	279					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.836A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629240	0.46944	.	.	ENSG00000167380	ENST00000426739	T	0.17691	2.26	3.98	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	N	0.11201	0.11	0.21416	N	0.999691	P	0.40431	0.717	B	0.39904	0.313	T	0.19353	-1.0308	9	0.39692	T	0.17	.	8.9723	0.35915	0.9057:0.0:0.0943:0.0	.	279	Q14588	ZN234_HUMAN	R	279	ENSP00000400878:Q279R	ENSP00000400878:Q279R	Q	+	2	0	ZNF226	49352845	0.000000	0.05858	0.401000	0.26359	0.994000	0.84299	0.158000	0.16422	0.639000	0.30564	0.477000	0.44152	CAG		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			105	226	0	0	0	0.870114	0	105	226				
NF2	4771	broad.mit.edu	37	22	30051666	30051666	+	Splice_Site	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:30051666G>A	ENST00000338641.4	+	6	1040		c.e6+1		NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(5)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCCGAGCCAGGTGAGGCCCAT	0.408			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		5	Unknown(5)	p.?(5)	meninges(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776	GRCh37	CS951487	NF2	S		c.e6+1		neurofibromin 2 (merlin)							83.0	87.0	85.0					22																	30051666		2203	4300	6503	SO:0001630	splice_region_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30051666G>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.599+1G>A	22.37:g.30051666G>A						NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361676.4_Splice_Site		NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			6	1040	+								O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37		CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954606	0.92726	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.036	0.92978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28381666	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.653000	0.98506	2.484000	0.83849	0.555000	0.69702	.		0.408	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	28	39	0	0	0	0.769981	0	28	39				
PLCD1	5333	broad.mit.edu	37	3	38050545	38050545	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:38050545C>A	ENST00000334661.4	-	11	1933	c.1711G>T	c.(1711-1713)Ggc>Tgc	p.G571C	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.G592C	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	571	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATCTGGCAGCCCCCATTCCAC	0.642																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1774-1776)Ggc>Tgc		phospholipase C, delta 1							51.0	50.0	50.0					3																	38050545		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050545C>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1711G>T	3.37:g.38050545C>A	ENSP00000335600:p.Gly571Cys					PLCD1_ENST00000334661.4_Missense_Mutation_p.G571C	p.G592C	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	11	2127	-			571			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1774G>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463609	0.84425	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	D;D	0.92099	-2.97;-2.97	5.19	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99655	1.0992	10	0.87932	D	0	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	571;592	P51178;B3KR14	PLCD1_HUMAN;.	C	592;571	ENSP00000430344:G592C;ENSP00000335600:G571C	ENSP00000335600:G571C	G	-	1	0	PLCD1	38025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.611000	0.88343	0.561000	0.74099	GGC		0.642	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			9	11	1	0	0.000978159	0.387290	0.00100202	9	11				
RNF31	55072	broad.mit.edu	37	14	24619565	24619565	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24619565C>T	ENST00000324103.6	+	7	1425	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L	RNF31_ENST00000382687.3_Silent_p.L218L|RNF31_ENST00000559275.1_Silent_p.L218L|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	369	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGCTGCTGTGCTATGTTCCAT	0.587																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1105-1107)Cta>Tta		ring finger protein 31							56.0	63.0	61.0					14																	24619565		2104	4229	6333	SO:0001819	synonymous_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619565C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1105C>T	14.37:g.24619565C>T						RNF31_ENST00000382687.3_Silent_p.L218L|RNF31_ENST00000559275.1_Silent_p.L218L	p.L369L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	7	1425	+			369			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.1105C>T	CCDS41931.1																																																																																				0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		32	53	0	0	0	0.788014	0	32	53				
CEP152	22995	broad.mit.edu	37	15	49076301	49076301	+	Missense_Mutation	SNP	C	C	T	rs201569877		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:49076301C>T	ENST00000380950.2	-	10	1377	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000399334.3_Missense_Mutation_p.R397H|CEP152_ENST00000325747.5_Missense_Mutation_p.R304H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	397					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATCTTTCAGACGAGAGCAAAT	0.303																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1189-1191)cGt>cAt		centrosomal protein 152kDa		C	HIS/ARG,HIS/ARG	0,3680		0,0,1840	88.0	79.0	82.0		1190,1190	-2.4	0.3	15		82	1,8151		0,1,4075	no	missense,missense	CEP152	NM_001194998.1,NM_014985.3	29,29	0,1,5915	TT,TC,CC		0.0123,0.0,0.0085	benign,benign	397/1711,397/1655	49076301	1,11831	1840	4076	5916	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49076301C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1190G>A	15.37:g.49076301C>T	ENSP00000370337:p.Arg397His					CEP152_ENST00000399334.3_Missense_Mutation_p.R397H|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.R304H	p.R397H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	10	1377	-		all_lung(180;0.0428)	397					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1190G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	5.596	0.294713	0.10567	0.0	1.23E-4	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.78707	-1.2;-1.2;-1.2	5.23	-2.42	0.06542	.	0.520042	0.21633	N	0.071460	T	0.57519	0.2059	N	0.13003	0.285	0.24335	N	0.994989	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.44112	-0.9349	10	0.31617	T	0.26	-2.0912	12.9813	0.58567	0.0:0.6157:0.0:0.3843	.	304;397;397	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	397;304;397;397	ENSP00000370337:R397H;ENSP00000321000:R304H;ENSP00000382271:R397H	ENSP00000321000:R304H	R	-	2	0	CEP152	46863593	0.830000	0.29337	0.318000	0.25279	0.164000	0.22412	-0.201000	0.09464	-0.283000	0.09115	-0.670000	0.03821	CGT		0.303	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		29	62	0	0	0	0.729181	0	29	62				
FAT1	2195	broad.mit.edu	37	4	187540370	187540370	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:187540370A>G	ENST00000441802.2	-	10	7579	c.7370T>C	c.(7369-7371)cTg>cCg	p.L2457P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2457	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAATGGCTTCAGGGCGTGCCG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7369-7371)cTg>cCg		FAT atypical cadherin 1							177.0	181.0	180.0					4																	187540370		2027	4172	6199	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540370A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7370T>C	4.37:g.187540370A>G	ENSP00000406229:p.Leu2457Pro	HNSCC(5;0.00058)					p.L2457P	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7579	-			2457			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7370T>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	9.917	1.211088	0.22289	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01787	4.64	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.118091	0.56097	D	0.000031	T	0.07234	0.0183	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.49082	-0.8976	10	0.30078	T	0.28	.	15.5954	0.76574	1.0:0.0:0.0:0.0	.	2457	Q14517	FAT1_HUMAN	P	2457;2459	ENSP00000406229:L2457P	ENSP00000260147:L2459P	L	-	2	0	FAT1	187777364	1.000000	0.71417	0.988000	0.46212	0.026000	0.11368	9.087000	0.94110	2.330000	0.79161	0.528000	0.53228	CTG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		115	99	0	0	0	0.870114	0	115	99				
BAHCC1	57597	broad.mit.edu	37	17	79409727	79409727	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:79409727A>T	ENST00000307745.7	+	9	1352	c.1352A>T	c.(1351-1353)gAg>gTg	p.E451V																								GGCAAGGGCGAGCGGCGGCCT	0.701																																						ENST00000307745.7																			0											c.(1351-1353)gAg>gTg									11.0	16.0	14.0					17																	79409727		1916	4104	6020	SO:0001583	missense	57597							g.chr17:79409727A>T																												ENST00000307745.7:c.1352A>T	17.37:g.79409727A>T	ENSP00000303486:p.Glu451Val						p.E451V							9	1352	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1352A>T		.	.	.	.	.	.	.	.	.	.	a	16.75	3.208246	0.58343	.	.	ENSG00000171282	ENST00000307745	T	0.14391	2.51	3.89	3.89	0.44902	.	.	.	.	.	T	0.13286	0.0322	L	0.29908	0.895	0.30187	N	0.79986	P	0.48911	0.917	B	0.44315	0.446	T	0.03555	-1.1025	9	0.62326	D	0.03	.	11.8568	0.52441	1.0:0.0:0.0:0.0	.	451	Q9P281	BAHC1_HUMAN	V	451	ENSP00000303486:E451V	ENSP00000303486:E451V	E	+	2	0	AC110285.1	77024322	0.871000	0.30034	0.991000	0.47740	0.452000	0.32318	1.643000	0.37217	1.648000	0.50643	0.241000	0.17934	GAG		0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				5	4	0	0	0	0.278610	0	5	4				
LRRC43	254050	broad.mit.edu	37	12	122674785	122674785	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:122674785A>T	ENST00000339777.4	+	5	799	c.771A>T	c.(769-771)ggA>ggT	p.G257G	LRRC43_ENST00000425921.1_Silent_p.G72G	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	257										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCTGCAGGGAAACCCACTGG	0.637																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(769-771)ggA>ggT		leucine rich repeat containing 43							91.0	103.0	99.0					12																	122674785		2168	4260	6428	SO:0001819	synonymous_variant	254050							g.chr12:122674785A>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.771A>T	12.37:g.122674785A>T						LRRC43_ENST00000425921.1_Silent_p.G72G	p.G257G	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	799	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		257					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.771A>T	CCDS45001.1																																																																																				0.637	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		41	83	0	0	0	0.870114	0	41	83				
HEATR5B	54497	broad.mit.edu	37	2	37291914	37291914	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:37291914C>G	ENST00000233099.5	-	10	1648	c.1553G>C	c.(1552-1554)tGt>tCt	p.C518S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.C518S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	518						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCCAAAGGACACTGATGTAC	0.488																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1552-1554)tGt>tCt		HEAT repeat containing 5B							128.0	114.0	119.0					2																	37291914		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37291914C>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1553G>C	2.37:g.37291914C>G	ENSP00000233099:p.Cys518Ser					HEATR5B_ENST00000354531.2_Missense_Mutation_p.C518S	p.C518S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			10	1648	-		all_hematologic(82;0.21)	518					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1553G>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945947	0.34377	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07327	3.2;3.2	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.35542	1.07	0.80722	D	1	B	0.31548	0.328	B	0.30105	0.111	T	0.24728	-1.0152	10	0.08837	T	0.75	-15.5863	19.234	0.93850	0.0:1.0:0.0:0.0	.	518	Q9P2D3	HTR5B_HUMAN	S	518	ENSP00000233099:C518S;ENSP00000346531:C518S	ENSP00000233099:C518S	C	-	2	0	HEATR5B	37145418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.975000	0.70475	2.554000	0.86153	0.655000	0.94253	TGT		0.488	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		40	103	0	0	0	0.827153	0	40	103				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			7	26	0	0	0	0.248553	0	7	26				
TRIOBP	11078	broad.mit.edu	37	22	38168624	38168624	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:38168624C>T	ENST00000406386.3	+	23	7208	c.6953C>T	c.(6952-6954)tCg>tTg	p.S2318L	TRIOBP_ENST00000403663.2_Missense_Mutation_p.S605L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2318					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCTTCACCTCGGGAAAGTAC	0.622																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6952-6954)tCg>tTg		TRIO and F-actin binding protein							74.0	83.0	80.0					22																	38168624		2125	4250	6375	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38168624C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6953C>T	22.37:g.38168624C>T	ENSP00000384312:p.Ser2318Leu					RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.S605L	p.S2318L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			23	7208	+	Melanoma(58;0.0574)		2318					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6953C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	34	5.335154	0.95758	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.21932	1.98	4.95	4.95	0.65309	.	.	.	.	.	T	0.42899	0.1223	L	0.53249	1.67	0.52501	D	0.999954	D;D;D	0.76494	0.999;0.995;0.999	D;P;P	0.69142	0.962;0.682;0.873	T	0.31336	-0.9947	9	0.72032	D	0.01	.	18.3811	0.90451	0.0:1.0:0.0:0.0	.	2220;605;2318	Q9H2D6-2;F8W6V6;Q9H2D6	.;.;TARA_HUMAN	L	2318;605	ENSP00000384312:S2318L	ENSP00000386026:S605L	S	+	2	0	TRIOBP	36498570	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.128000	0.77217	2.561000	0.86390	0.556000	0.70494	TCG		0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			59	32	0	0	0	0.870114	0	59	32				
ZNF846	162993	broad.mit.edu	37	19	9868821	9868821	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:9868821A>G	ENST00000397902.2	-	6	1345	c.932T>C	c.(931-933)gTa>gCa	p.V311A	ZNF846_ENST00000588267.1_Missense_Mutation_p.V182A|ZNF846_ENST00000592859.1_Missense_Mutation_p.V182A|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTCCATACATACATAGGGCTT	0.398																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(931-933)gTa>gCa		zinc finger protein 846							68.0	71.0	70.0					19																	9868821		2125	4258	6383	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868821A>G	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.932T>C	19.37:g.9868821A>G	ENSP00000380999:p.Val311Ala					ZNF846_ENST00000588267.1_Missense_Mutation_p.V182A|ZNF846_ENST00000592859.1_Missense_Mutation_p.V182A|ZNF846_ENST00000586293.1_3'UTR	p.V311A	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1345	-			311					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.932T>C	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.520704	0.44866	.	.	ENSG00000196605	ENST00000397902	T	0.07114	3.22	1.91	-2.26	0.06867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.13371	0.34	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.45512	-0.9256	8	.	.	.	.	3.3948	0.07302	0.2616:0.0:0.141:0.5974	.	311	Q147U1	ZN846_HUMAN	A	311	ENSP00000380999:V311A	.	V	-	2	0	ZNF846	9729821	0.000000	0.05858	0.000000	0.03702	0.932000	0.56968	-2.461000	0.00998	-0.733000	0.04850	0.374000	0.22700	GTA		0.398	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		4	166	0	0	0	0.217242	0	4	166				
TLR10	81793	broad.mit.edu	37	4	38775818	38775818	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:38775818A>G	ENST00000308973.4	-	4	1999	c.1394T>C	c.(1393-1395)cTg>cCg	p.L465P	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.L465P|TLR10_ENST00000508334.1_Missense_Mutation_p.L465P|TLR10_ENST00000361424.2_Missense_Mutation_p.L465P	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	465					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TAAGGCCATCAGATGAATAGT	0.348																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1393-1395)cTg>cCg		toll-like receptor 10							92.0	99.0	96.0					4																	38775818		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38775818A>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1394T>C	4.37:g.38775818A>G	ENSP00000308925:p.Leu465Pro					TLR10_ENST00000508334.1_Missense_Mutation_p.L465P|TLR10_ENST00000361424.2_Missense_Mutation_p.L465P|TLR10_ENST00000506111.1_Missense_Mutation_p.L465P	p.L465P	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1999	-			465					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1394T>C	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135663	0.37728	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.32	5.32	0.75619	.	0.000000	0.37955	N	0.001879	T	0.67040	0.2851	M	0.89785	3.06	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75451	-0.3313	10	0.87932	D	0	.	15.2878	0.73843	1.0:0.0:0.0:0.0	.	465	Q9BXR5	TLR10_HUMAN	P	465	ENSP00000308925:L465P;ENSP00000421483:L465P;ENSP00000354459:L465P;ENSP00000424923:L465P	ENSP00000308925:L465P	L	-	2	0	TLR10	38452213	1.000000	0.71417	0.243000	0.24186	0.254000	0.26022	9.108000	0.94275	2.014000	0.59158	0.477000	0.44152	CTG		0.348	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			96	84	0	0	0	0.870114	0	96	84				
ZNF462	58499	broad.mit.edu	37	9	109734321	109734321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:109734321C>T	ENST00000277225.5	+	8	6752	c.6463C>T	c.(6463-6465)Cag>Tag	p.Q2155*	ZNF462_ENST00000441147.2_Nonsense_Mutation_p.Q1061*|ZNF462_ENST00000542028.1_Nonsense_Mutation_p.Q112*|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q2215*|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2155					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGTTCAGCAGCAGTTGAACCA	0.517																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6463-6465)Cag>Tag		zinc finger protein 462							82.0	85.0	84.0					9																	109734321		2203	4300	6503	SO:0001587	stop_gained	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109734321C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6463C>T	9.37:g.109734321C>T	ENSP00000277225:p.Gln2155*					ZNF462_ENST00000542028.1_Nonsense_Mutation_p.Q112*|ZNF462_ENST00000441147.2_Nonsense_Mutation_p.Q1061*|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q2215*	p.Q2155*			Q96JM2	ZN462_HUMAN			8	6752	+			2155					Q5T0T4|Q8N408	Nonsense_Mutation	SNP	ENST00000277225.5	37	c.6463C>T	CCDS35096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.358832|16.358832	0.99861|0.99861	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000427098|ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.80088|.	0.4559|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75584|.	-0.3267|.	3|.	.|0.37606	.|T	.|0.19	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	56|2155;2215;1098;1061;112	.|.	.|ENSP00000277225:Q2155X	A|Q	+|+	2|1	0|0	ZNF462|ZNF462	108774142|108774142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.703000|5.703000	0.68340|0.68340	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.517	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	77	0	0	0	0.217242	0	5	77				
ATG4A	115201	broad.mit.edu	37	X	107381402	107381402	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:107381402T>G	ENST00000372232.3	+	9	954	c.795T>G	c.(793-795)taT>taG	p.Y265*	ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Nonsense_Mutation_p.Y241*|ATG4A_ENST00000545696.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	265					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATAACGCGTATTATTTCATAG	0.458																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(793-795)taT>taG		autophagy related 4A, cysteine peptidase							163.0	149.0	154.0					X																	107381402		2203	4300	6503	SO:0001587	stop_gained	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107381402T>G	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.795T>G	X.37:g.107381402T>G	ENSP00000361306:p.Tyr265*					ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Nonsense_Mutation_p.Y241*|ATG4A_ENST00000345734.3_Intron	p.Y265*	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			9	954	+			265					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Nonsense_Mutation	SNP	ENST00000372232.3	37	c.795T>G	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.556822|6.556822	0.97663|0.97663	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000372254;ENST00000457035	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.31765|.	0.0807|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20207|.	-1.0282|.	4|.	.|0.02654	.|T	.|1	-10.1154|-10.1154	9.7227|9.7227	0.40313|0.40313	0.0:0.0818:0.0:0.9182|0.0:0.0818:0.0:0.9182	.|.	.|.	.|.	.|.	S|X	238|265;241;188	.|.	.|ENSP00000361306:Y265X	I|Y	+|+	2|3	0|2	ATG4A|ATG4A	107268058|107268058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.451000|2.451000	0.44952|0.44952	1.796000|1.796000	0.52611|0.52611	0.451000|0.451000	0.29950|0.29950	ATT|TAT		0.458	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		113	97	0	0	0	0.870114	0	113	97				
WLS	79971	broad.mit.edu	37	1	68614299	68614299	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:68614299G>A	ENST00000262348.4	-	7	1270	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Silent_p.V337V|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Silent_p.V248V|WLS_ENST00000540432.1_Silent_p.V339V	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	339					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CAATGGGTCCGACTTGCTTCC	0.512																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1015-1017)gtC>gtT		wntless Wnt ligand secretion mediator							158.0	105.0	123.0					1																	68614299		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68614299G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1017C>T	1.37:g.68614299G>A						GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Silent_p.V248V|WLS_ENST00000354777.2_Silent_p.V337V|WLS_ENST00000540432.1_Silent_p.V339V	p.V339V	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			7	1270	-			339					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.1017C>T	CCDS642.1																																																																																				0.512	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		12	14	0	0	0	0.500413	0	12	14				
ATP6V1B1	525	broad.mit.edu	37	2	71189971	71189971	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:71189971G>A	ENST00000234396.4	+	9	923	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E284K|AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	284					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTACCAGTGTGAGAAGCATGT	0.582																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(850-852)Gag>Aag		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							142.0	124.0	130.0					2																	71189971		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71189971G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.850G>A	2.37:g.71189971G>A	ENSP00000234396:p.Glu284Lys					ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E284K|AC007040.11_ENST00000606025.1_Intron	p.E284K	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			9	923	+			284					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.850G>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990521	0.74589	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.80994	-1.44;-1.44	5.41	4.51	0.55191	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.073219	0.50627	D	0.000109	T	0.77350	0.4117	L	0.49699	1.58	0.58432	D	0.999997	B;B;B	0.23990	0.002;0.044;0.095	B;B;B	0.29598	0.073;0.104;0.071	T	0.74740	-0.3563	10	0.52906	T	0.07	-11.1079	13.7812	0.63084	0.0:0.155:0.845:0.0	.	259;284;284	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	284;259;284	ENSP00000234396:E284K;ENSP00000388353:E284K	ENSP00000234396:E284K	E	+	1	0	ATP6V1B1	71043479	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.860000	0.99555	1.249000	0.43950	0.650000	0.86243	GAG		0.582	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		33	67	0	0	0	0.769981	0	33	67				
THOC6	79228	broad.mit.edu	37	16	3076526	3076526	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:3076526C>A	ENST00000326266.8	+	7	717	c.421C>A	c.(421-423)Ctc>Atc	p.L141I	HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.L117I|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.L117I|THOC6_ENST00000253952.9_Missense_Mutation_p.L141I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	141					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GGAGAATTCCCTCATCCTGGC	0.522																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(421-423)Ctc>Atc		THO complex 6 homolog (Drosophila)							79.0	74.0	76.0					16																	3076526		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076526C>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.421C>A	16.37:g.3076526C>A	ENSP00000326531:p.Leu141Ile					THOC6_ENST00000574549.1_Missense_Mutation_p.L117I|THOC6_ENST00000253952.9_Missense_Mutation_p.L141I|THOC6_ENST00000575576.1_Missense_Mutation_p.L117I	p.L141I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			7	717	+			141					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.421C>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551412	0.65311	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.37235	1.21;1.21	5.7	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.56396	1.775	0.46416	D	0.999039	D;D	0.89917	0.976;1.0	P;D	0.71414	0.698;0.973	T	0.44711	-0.9310	10	0.26408	T	0.33	7.7479	10.5036	0.44821	0.0:0.9112:0.0:0.0888	.	141;141	Q86W42-3;Q86W42	.;THOC6_HUMAN	I	141	ENSP00000326531:L141I;ENSP00000253952:L141I	ENSP00000253952:L141I	L	+	1	0	THOC6	3016527	0.991000	0.36638	0.977000	0.42913	0.852000	0.48524	2.870000	0.48451	1.423000	0.47198	0.561000	0.74099	CTC		0.522	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		16	33	1	0	7.41877e-09	0.608945	7.76061e-09	16	33				
SNRNP200	23020	broad.mit.edu	37	2	96943382	96943382	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:96943382A>G	ENST00000323853.5	-	41	5903	c.5826T>C	c.(5824-5826)gcT>gcC	p.A1942A	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1942	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCAGTTCCATAGCTGCCAGAG	0.547																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(5824-5826)gcT>gcC		small nuclear ribonucleoprotein 200kDa (U5)							83.0	80.0	81.0					2																	96943382		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96943382A>G	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5826T>C	2.37:g.96943382A>G						SNRNP200_ENST00000349783.5_Intron	p.A1942A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			41	5903	-			1942			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.5826T>C	CCDS2020.1																																																																																				0.547	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		35	63	0	0	0	0.827153	0	35	63				
CD1B	910	broad.mit.edu	37	1	158301156	158301156	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:158301156G>A	ENST00000368168.3	-	1	165	c.58C>T	c.(58-60)Cat>Tat	p.H20Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	20					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTCTTACCATGTTCACTGTTA	0.483																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(58-60)Cat>Tat		CD1b molecule							83.0	74.0	77.0					1																	158301156		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158301156G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.58C>T	1.37:g.158301156G>A	ENSP00000357150:p.His20Tyr						p.H20Y	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			1	165	-	all_hematologic(112;0.0378)		20					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.58C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	6.962	0.547453	0.13312	.	.	ENSG00000158485	ENST00000368168	T	0.01313	5.02	3.14	0.192	0.15134	.	4.624820	0.01274	N	0.009534	T	0.00468	0.0015	L	0.42245	1.32	0.09310	N	1	P;B	0.46859	0.885;0.029	B;B	0.30495	0.116;0.005	T	0.47971	-0.9075	10	0.87932	D	0	.	3.412	0.07361	0.0:0.4965:0.2364:0.2671	.	20;20	B4E0D2;P29016	.;CD1B_HUMAN	Y	20	ENSP00000357150:H20Y	ENSP00000357150:H20Y	H	-	1	0	CD1B	156567780	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.043000	0.12043	0.040000	0.15660	-0.884000	0.02946	CAT		0.483	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		22	51	0	0	0	0.667858	0	22	51				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100491	27100491	+	Silent	SNP	C	C	T	rs201335271		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:27100491C>T	ENST00000607124.1	-	1	38	c.39G>A	c.(37-39)aaG>aaA	p.K13K	HIST1H2BJ_ENST00000541790.1_Silent_p.K13K|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Silent_p.K13K			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	13					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TCTTGGAGCCCTTTTTCGGGG	0.532																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(37-39)aaG>aaA		histone cluster 1, H2bj							83.0	85.0	84.0					6																	27100491		2203	4300	6503	SO:0001819	synonymous_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100491C>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.39G>A	6.37:g.27100491C>T						HIST1H2BJ_ENST00000541790.1_Silent_p.K13K|HIST1H2BJ_ENST00000339812.2_Silent_p.K13K	p.K13K			P06899	H2B1J_HUMAN			1	38	-			13					B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	c.39G>A	CCDS4618.1																																																																																				0.532	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		4	152	0	0	0	0.150653	0	4	152				
TRAPPC10	7109	broad.mit.edu	37	21	45523258	45523258	+	Missense_Mutation	SNP	G	G	A	rs138635982	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45523258G>A	ENST00000291574.4	+	23	3801	c.3626G>A	c.(3625-3627)aGc>aAc	p.S1209N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1209					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGCAGGGGCAGCGTGCATTCG	0.627													G|||	4	0.000798722	0.003	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.0					ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3625-3627)aGc>aAc		trafficking protein particle complex 10		G	ASN/SER	24,4382	30.8+/-60.4	0,24,2179	51.0	45.0	47.0		3626	4.9	0.9	21	dbSNP_134	47	1,8599		0,1,4299	yes	missense	TRAPPC10	NM_003274.4	46	0,25,6478	AA,AG,GG		0.0116,0.5447,0.1922	probably-damaging	1209/1260	45523258	25,12981	2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45523258G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3626G>A	21.37:g.45523258G>A	ENSP00000291574:p.Ser1209Asn						p.S1209N	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			23	3801	+			1209					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3626G>A	CCDS13704.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.74	3.206627	0.58343	0.005447	1.16E-4	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.32272	1.46	4.9	4.9	0.64082	.	0.090137	0.85682	D	0.000000	T	0.38825	0.1055	L	0.46157	1.445	0.49483	D	0.999793	D;D	0.89917	1.0;0.997	D;D	0.75484	0.986;0.929	T	0.23797	-1.0178	10	0.46703	T	0.11	.	13.4299	0.61049	0.0:0.0:0.8431:0.1569	.	468;1209	B4DI17;P48553	.;TPC10_HUMAN	N	1209;340	ENSP00000291574:S1209N	ENSP00000291574:S1209N	S	+	2	0	TRAPPC10	44347686	1.000000	0.71417	0.929000	0.37066	0.195000	0.23768	7.209000	0.77916	2.419000	0.82065	0.655000	0.94253	AGC		0.627	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		5	15	0	0	0	0.307466	0	5	15				
PIK3CD	5293	broad.mit.edu	37	1	9781596	9781596	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:9781596C>T	ENST00000377346.4	+	15	2101	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	PIK3CD_ENST00000543390.1_Missense_Mutation_p.R303W|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R660W|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R660W	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	636	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCTGCTGGACCGGGCCCTGGC	0.617											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1978-1980)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							59.0	60.0	60.0					1																	9781596		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781596C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1906C>T	1.37:g.9781596C>T	ENSP00000366563:p.Arg636Trp		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R660W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R636W|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R303W	p.R660W			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2186	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	636					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1978C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364980	0.41902	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.72	2.77	0.32553	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	H	0.96208	3.785	0.48901	D	0.999725	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89750	0.3939	10	0.87932	D	0	-45.5013	14.6661	0.68910	0.6353:0.3647:0.0:0.0	.	635;660;636	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	W	660;636;660;660;303	ENSP00000446444:R660W;ENSP00000366563:R636W;ENSP00000354410:R660W;ENSP00000443811:R303W	ENSP00000353766:R660W	R	+	1	2	PIK3CD	9704183	0.975000	0.34042	0.773000	0.31616	0.000000	0.00434	1.740000	0.38228	0.327000	0.23409	-1.036000	0.02392	CGG		0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		13	15	0	0	0	0.479597	0	13	15				
UGT1A1	54658	broad.mit.edu	37	2	234669127	234669127	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:234669127C>T	ENST00000608383.1	+	1	194	c.194C>T	c.(193-195)tCg>tTg	p.S65L	UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S65L|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S65L|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	65					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCTGACGCCTCGTTGTACATC	0.517																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(193-195)tCg>tTg			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						172.0	144.0	154.0					2																	234669127		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669127C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.194C>T	2.37:g.234669127C>T	ENSP00000476741:p.Ser65Leu					UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.S65L|UGT1A7_ENST00000373426.3_Intron	p.S65L			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	194	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	65					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.194C>T	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767290	0.31320	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.60299	0.2;0.2	6.07	2.01	0.26516	.	.	.	.	.	T	0.61602	0.2360	M	0.74881	2.28	0.09310	N	1	P;P	0.51449	0.945;0.94	P;P	0.50825	0.651;0.473	T	0.53954	-0.8365	9	0.72032	D	0.01	.	4.3051	0.10942	0.3635:0.3691:0.1986:0.0688	.	65;65	A6NJC3;P22309	.;UD11_HUMAN	L	65	ENSP00000304845:S65L;ENSP00000353593:S65L	ENSP00000304845:S65L	S	+	2	0	UGT1A1	234333866	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.279000	0.08479	0.404000	0.25506	0.650000	0.86243	TCG		0.517	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				21	229	0	0	0	0.592651	0	21	229				
DISP2	85455	broad.mit.edu	37	15	40661343	40661343	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:40661343C>T	ENST00000267889.3	+	8	3117	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1010					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGTTCTCCTCGAGTGGCAGC	0.587																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3028-3030)ctC>ctT		dispatched homolog 2 (Drosophila)							69.0	62.0	64.0					15																	40661343		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661343C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3030C>T	15.37:g.40661343C>T						RP11-64K12.4_ENST00000558421.1_RNA	p.L1010L	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3117	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1010					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.3030C>T	CCDS10056.1																																																																																				0.587	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		15	25	0	0	0	0.654019	0	15	25				
ARHGAP32	9743	broad.mit.edu	37	11	128851410	128851410	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:128851410T>C	ENST00000310343.9	-	16	1638	c.1639A>G	c.(1639-1641)Atg>Gtg	p.M547V	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M198V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M473V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M198V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	547	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCACTTCCATGAAAGCTGCT	0.473																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(1639-1641)Atg>Gtg		Rho GTPase activating protein 32							141.0	114.0	123.0					11																	128851410		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128851410T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1639A>G	11.37:g.128851410T>C	ENSP00000310561:p.Met547Val					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M473V|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M198V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M198V	p.M547V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			16	1638	-			547			Rho-GAP.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1639A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168469	0.57584	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.7	5.7	0.88788	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	N	0.25890	0.77	0.58432	D	0.999996	P;B	0.48640	0.913;0.374	P;B	0.48873	0.593;0.118	T	0.01460	-1.1349	10	0.56958	D	0.05	.	15.6313	0.76912	0.0:0.0:0.0:1.0	.	481;547	Q86T64;A7KAX9	.;RHG32_HUMAN	V	547;198;473;481;198;257	ENSP00000310561:M547V;ENSP00000376425:M198V;ENSP00000432468:M473V;ENSP00000432862:M198V	ENSP00000310561:M547V	M	-	1	0	ARHGAP32	128356620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.954000	0.70298	2.183000	0.69458	0.533000	0.62120	ATG		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		5	145	0	0	0	0.217242	0	5	145				
STKLD1	169436	broad.mit.edu	37	9	136255356	136255356	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:136255356T>C	ENST00000371957.3	+	6	550	c.443T>C	c.(442-444)cTg>cCg	p.L148P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGGAATACCTGCACCATTTG	0.622																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(442-444)cTg>cCg		chromosome 9 open reading frame 96							107.0	82.0	90.0					9																	136255356		2202	4300	6502	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136255356T>C																												ENST00000371957.3:c.443T>C	9.37:g.136255356T>C	ENSP00000361025:p.Leu148Pro					C9orf96_ENST00000371955.1_5'UTR	p.L148P	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	6	550	+			148			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.443T>C	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745998	0.69418	.	.	ENSG00000198870	ENST00000371957	T	0.40476	1.03	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143104	0.31847	N	0.006962	T	0.73434	0.3586	H	0.96996	3.92	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.81684	-0.0821	10	0.87932	D	0	-20.6852	11.2292	0.48901	0.0:0.0:0.0:1.0	.	148	Q8NE28	SGK71_HUMAN	P	148	ENSP00000361025:L148P	ENSP00000361025:L148P	L	+	2	0	C9orf96	135245177	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	3.984000	0.56923	1.966000	0.57179	0.524000	0.50904	CTG		0.622	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			12	14	0	0	0	0.457914	0	12	14				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	56	0	0	0	0.654019	0	19	56				
SPG11	80208	broad.mit.edu	37	15	44888371	44888371	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:44888371G>A	ENST00000261866.7	-	25	4360	c.4344C>T	c.(4342-4344)tgC>tgT	p.C1448C	SPG11_ENST00000427534.2_Silent_p.C1448C|SPG11_ENST00000558319.1_Silent_p.C1448C|SPG11_ENST00000535302.2_Silent_p.C1448C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1448					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCTCCTCTGAGCATTGGAGCA	0.498																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(4342-4344)tgC>tgT		spastic paraplegia 11 (autosomal recessive)							97.0	95.0	96.0					15																	44888371		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44888371G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4344C>T	15.37:g.44888371G>A						SPG11_ENST00000535302.2_Silent_p.C1448C|SPG11_ENST00000427534.2_Silent_p.C1448C|SPG11_ENST00000558319.1_Silent_p.C1448C	p.C1448C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	25	4360	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1448					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.4344C>T	CCDS10112.1																																																																																				0.498	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			49	103	0	0	0	0.870114	0	49	103				
ADAMTS20	80070	broad.mit.edu	37	12	43826136	43826136	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:43826136G>A	ENST00000389420.3	-	21	3066	c.3067C>T	c.(3067-3069)Ccc>Tcc	p.P1023S	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P177S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1023S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1023	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCCAACTGGGACAGGAAAAT	0.383																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3067-3069)Ccc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 20							116.0	108.0	111.0					12																	43826136		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826136G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3067C>T	12.37:g.43826136G>A	ENSP00000374071:p.Pro1023Ser					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1023S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P177S	p.P1023S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	3066	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1023			TSP type-1 4.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3067C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386616	0.82902	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.04	4.13	0.48395	.	0.119937	0.37623	N	0.002018	T	0.76622	0.4013	M	0.87900	2.915	0.58432	D	0.999997	D;D	0.60160	0.987;0.985	P;P	0.62813	0.907;0.685	T	0.82004	-0.0672	10	0.72032	D	0.01	.	14.5124	0.67797	0.0727:0.0:0.9273:0.0	.	1023;177	P59510;E9PBD5	ATS20_HUMAN;.	S	1023;189;177;1023;1023	ENSP00000374071:P1023S;ENSP00000447427:P189S;ENSP00000378911:P177S;ENSP00000448341:P1023S	ENSP00000374068:P1023S	P	-	1	0	ADAMTS20	42112403	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	7.451000	0.80668	1.401000	0.46761	0.655000	0.94253	CCC		0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		25	52	0	0	0	0.667858	0	25	52				
DLG5	9231	broad.mit.edu	37	10	79567599	79567599	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:79567599T>C	ENST00000372391.2	-	25	4756	c.4751A>G	c.(4750-4752)gAg>gGg	p.E1584G	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.E1244G	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1584					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCGTGAACTCCTCAGGGCG	0.592																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4750-4752)gAg>gGg		discs, large homolog 5 (Drosophila)							113.0	92.0	99.0					10																	79567599		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79567599T>C	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4751A>G	10.37:g.79567599T>C	ENSP00000361467:p.Glu1584Gly					DLG5_ENST00000372388.2_Missense_Mutation_p.E1244G|DLG5_ENST00000459739.1_5'UTR	p.E1584G	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		25	4756	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1584					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4751A>G	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596644	0.86953	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.43294	0.95;0.95;0.95	5.74	5.74	0.90152	PDZ/DHR/GLGF (1);	0.380726	0.19315	N	0.117281	T	0.52917	0.1764	M	0.65975	2.015	0.53005	D	0.999963	P;P	0.45768	0.611;0.866	B;P	0.48598	0.05;0.583	T	0.53436	-0.8439	10	0.48119	T	0.1	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	1584;1244	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	G	1584;545;1244	ENSP00000361467:E1584G;ENSP00000394797:E545G;ENSP00000361464:E1244G	ENSP00000361464:E1244G	E	-	2	0	DLG5	79237605	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.672000	0.68102	2.317000	0.78254	0.459000	0.35465	GAG		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			3	92	0	0	0	0.150653	0	3	92				
DYRK4	8798	broad.mit.edu	37	12	4721810	4721810	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:4721810G>T	ENST00000540757.2	+	12	1407	c.1247G>T	c.(1246-1248)aGg>aTg	p.R416M	DYRK4_ENST00000543431.1_Missense_Mutation_p.R416M|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Missense_Mutation_p.R53M|DYRK4_ENST00000010132.5_Missense_Mutation_p.R416M	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	416						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAGACCCTGAGGAAATCCAAT	0.532																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1246-1248)aGg>aTg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							113.0	103.0	107.0					12																	4721810		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4721810G>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1247G>T	12.37:g.4721810G>T	ENSP00000441755:p.Arg416Met					DYRK4_ENST00000010132.5_Missense_Mutation_p.R416M|DYRK4_ENST00000545342.1_Missense_Mutation_p.R53M|DYRK4_ENST00000543431.1_Missense_Mutation_p.R416M	p.R416M	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		12	1407	+			416					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1247G>T	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.192857|2.192857	0.38707|0.38707	.|.	.|.	ENSG00000010219|ENSG00000010219	ENST00000544671|ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	.|T;T;T;T;T	.|0.73681	.|2.08;2.08;2.08;2.08;-0.77	5.81|5.81	3.97|3.97	0.46021|0.46021	.|Protein kinase-like domain (1);	.|0.248284	.|0.39909	.|N	.|0.001237	T|T	0.77418|0.77418	0.4127|0.4127	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.71674	.|0.986;0.998;0.928;0.943	.|P;P;P;P	.|0.57324	.|0.794;0.818;0.641;0.646	T|T	0.77963|0.77963	-0.2390|-0.2390	5|10	.|0.52906	.|T	.|0.07	.|.	10.6659|10.6659	0.45731|0.45731	0.2086:0.0:0.7914:0.0|0.2086:0.0:0.7914:0.0	.|.	.|531;130;416;416	.|F5H6L9;B4E1A4;Q9NR20-2;Q9NR20	.|.;.;.;DYRK4_HUMAN	D|M	77|531;416;416;416;53	.|ENSP00000437534:R531M;ENSP00000441755:R416M;ENSP00000010132:R416M;ENSP00000439697:R416M;ENSP00000446005:R53M	.|ENSP00000010132:R416M	E|R	+|+	3|2	2|0	DYRK4|DYRK4	4592071|4592071	0.975000|0.975000	0.34042|0.34042	0.817000|0.817000	0.32601|0.32601	0.002000|0.002000	0.02628|0.02628	1.444000|1.444000	0.35068|0.35068	1.461000|1.461000	0.47929|0.47929	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.532	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			36	118	1	0	2.47872e-24	0.853193	2.71818e-24	36	118				
MYH10	4628	broad.mit.edu	37	17	8421992	8421992	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:8421992T>G	ENST00000269243.4	-	19	2506	c.2368A>C	c.(2368-2370)Att>Ctt	p.I790L	MYH10_ENST00000360416.3_Missense_Mutation_p.I821L|MYH10_ENST00000396239.1_Missense_Mutation_p.I811L|MYH10_ENST00000379980.4_Missense_Mutation_p.I806L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	790	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGAAGATAATGATATCGGTG	0.428																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2461-2463)Att>Ctt		myosin, heavy chain 10, non-muscle							97.0	87.0	91.0					17																	8421992		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8421992T>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2368A>C	17.37:g.8421992T>G	ENSP00000269243:p.Ile790Leu					MYH10_ENST00000269243.4_Missense_Mutation_p.I790L|MYH10_ENST00000396239.1_Missense_Mutation_p.I811L|MYH10_ENST00000379980.4_Missense_Mutation_p.I806L	p.I821L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			21	2599	-			790					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.2461A>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646612	0.87958	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.51853	1.615	0.58432	D	0.999999	P;P;P	0.48911	0.475;0.917;0.475	D;P;D	0.64237	0.923;0.773;0.923	T	0.40059	-0.9583	10	0.46703	T	0.11	.	14.7985	0.69894	0.0:0.0:0.0:1.0	.	799;821;790	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	790;821;811;806	ENSP00000269243:I790L;ENSP00000353590:I821L;ENSP00000379539:I811L;ENSP00000369315:I806L	ENSP00000269243:I790L	I	-	1	0	MYH10	8362717	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.825000	0.86693	2.078000	0.62432	0.524000	0.50904	ATT		0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			45	95	0	0	0	0.870114	0	45	95				
NF1	4763	broad.mit.edu	37	17	29647410	29647410	+	Intron	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:29647410C>T	ENST00000358273.4	+	37	5218				EVI2A_ENST00000247270.3_Missense_Mutation_p.A14T|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|EVI2A_ENST00000461237.1_Intron|NF1_ENST00000581113.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ataggtagggcctgaaagtct	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000247270.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763		neurofibromatosis type 1 gene			O					11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(40-42)Gcc>Acc		ecotropic viral integration site 2A							79.0	72.0	75.0					17																	29647410		2203	4300	6503	SO:0001627	intron_variant	2123		Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		integral to membrane	transmembrane receptor activity	g.chr17:29647410C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4836-5428C>T	17.37:g.29647410C>T						EVI2A_ENST00000462804.2_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000461237.1_Intron|NF1_ENST00000358273.4_Intron	p.A14T	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	2	376	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	0					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.40G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752064	0.49362	.	.	ENSG00000126860	ENST00000247270	.	.	.	4.06	0.902	0.19290	.	0.577891	0.13277	N	0.400017	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.40731	0.728	B	0.33521	0.165	T	0.16129	-1.0413	8	0.87932	D	0	.	3.5194	0.07736	0.198:0.5886:0.0:0.2134	.	14	P22794-2	.	T	14	.	ENSP00000247270:A14T	A	-	1	0	EVI2A	26671536	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.256000	0.08757	0.257000	0.21650	0.650000	0.86243	GCC		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	110	0	0	0	0.248553	0	7	110				
ELANE	1991	broad.mit.edu	37	19	852901	852901	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:852901G>T	ENST00000590230.1	+	3	234	c.93G>T	c.(91-93)gtG>gtT	p.V31V	ELANE_ENST00000263621.1_Silent_p.V31V			P08246	ELNE_HUMAN	elastase, neutrophil expressed	31	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGGAGATTGTGGGGGGCCGGC	0.726																																						ENST00000590230.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(91-93)gtG>gtT		elastase, neutrophil expressed	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						9.0	11.0	11.0					19																	852901		2073	4071	6144	SO:0001819	synonymous_variant	1991				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:852901G>T		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.93G>T	19.37:g.852901G>T						ELANE_ENST00000263621.1_Silent_p.V31V	p.V31V			P08246	ELNE_HUMAN			3	234	+			31			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.93G>T	CCDS12045.1																																																																																				0.726	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		8	4	1	0	0.000274275	0.307466	0.000281652	8	4				
GAB4	128954	broad.mit.edu	37	22	17446137	17446137	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:17446137A>G	ENST00000400588.1	-	7	1417	c.1310T>C	c.(1309-1311)cTg>cCg	p.L437P	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	437										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGTTTCTCAGGTTGGGCGG	0.547																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1309-1311)cTg>cCg		GRB2-associated binding protein family, member 4							173.0	180.0	178.0					22																	17446137		2020	4215	6235	SO:0001583	missense	128954							g.chr22:17446137A>G	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1310T>C	22.37:g.17446137A>G	ENSP00000383431:p.Leu437Pro						p.L437P	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			7	1417	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	437						Missense_Mutation	SNP	ENST00000400588.1	37	c.1310T>C	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425901	0.25726	.	.	ENSG00000215568	ENST00000400588	T	0.35789	1.29	1.97	1.97	0.26223	.	0.000000	0.64402	D	0.000001	T	0.49270	0.1547	L	0.60067	1.865	0.53688	D	0.999971	D	0.76494	0.999	D	0.83275	0.996	T	0.42515	-0.9447	10	0.41790	T	0.15	.	7.8748	0.29586	1.0:0.0:0.0:0.0	.	437	Q2WGN9	GAB4_HUMAN	P	437	ENSP00000383431:L437P	ENSP00000383431:L437P	L	-	2	0	GAB4	15826137	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	8.088000	0.89523	1.148000	0.42385	0.338000	0.21704	CTG		0.547	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		26	47	0	0	0	0.717897	0	26	47				
RASGEF1A	221002	broad.mit.edu	37	10	43696217	43696217	+	Silent	SNP	C	C	T	rs61758758	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:43696217C>T	ENST00000395809.1	-	5	3085	c.579G>A	c.(577-579)aaG>aaA	p.K193K	RASGEF1A_ENST00000395810.1_Silent_p.K193K|RASGEF1A_ENST00000374459.1_Silent_p.K201K|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	193					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGATGGGCCCCTTGTCTACAG	0.642													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17748	0.0		0.001	False		,,,				2504	0.0					ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(577-579)aaG>aaA		RasGEF domain family, member 1A		C		2,4404	4.2+/-10.8	0,2,2201	66.0	58.0	61.0		579	3.9	1.0	10	dbSNP_129	61	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	RASGEF1A	NM_145313.2		0,16,6487	TT,TC,CC		0.1628,0.0454,0.123		193/482	43696217	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43696217C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.579G>A	10.37:g.43696217C>T						RASGEF1A_ENST00000395810.1_Silent_p.K193K|RASGEF1A_ENST00000374459.1_Silent_p.K201K|RASGEF1A_ENST00000472864.1_5'UTR	p.K193K			Q8N9B8	RGF1A_HUMAN			5	3085	-			193					Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.579G>A	CCDS7202.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.139	-0.397167	0.04899	4.54E-4	0.001628	ENSG00000198915	ENST00000374455	.	.	.	5.04	3.91	0.45181	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54248	-0.8322	4	.	.	.	.	8.9653	0.35872	0.0:0.1599:0.0:0.8401	rs61758758	.	.	.	R	95	.	.	G	-	1	0	RASGEF1A	43016223	0.975000	0.34042	1.000000	0.80357	0.242000	0.25591	0.098000	0.15189	0.775000	0.33450	-0.391000	0.06502	GGG		0.642	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		19	27	0	0	0	0.740014	0	19	27				
CHD5	26038	broad.mit.edu	37	1	6211094	6211094	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:6211094C>A	ENST00000262450.3	-	7	1091	c.992G>T	c.(991-993)aGg>aTg	p.R331M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGTCATACTCCTCTTCTTCTT	0.617																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(991-993)aGg>aTg		chromodomain helicase DNA binding protein 5							96.0	92.0	93.0					1																	6211094		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6211094C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.992G>T	1.37:g.6211094C>A	ENSP00000262450:p.Arg331Met					CHD5_ENST00000378021.1_De_novo_Start_InFrame	p.R331M	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	7	1091	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	331					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.992G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.576088	0.45902	.	.	ENSG00000116254	ENST00000262450	D	0.84873	-1.91	4.0	3.03	0.35002	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.067845	0.56097	U	0.000023	T	0.71525	0.3350	N	0.22421	0.69	0.80722	D	1	P	0.42785	0.79	B	0.38562	0.276	T	0.68588	-0.5369	10	0.56958	D	0.05	-3.6372	5.1145	0.14827	0.0:0.6336:0.1787:0.1877	.	331	Q8TDI0	CHD5_HUMAN	M	331	ENSP00000262450:R331M	ENSP00000262450:R331M	R	-	2	0	CHD5	6133681	1.000000	0.71417	0.995000	0.50966	0.775000	0.43874	2.803000	0.47924	0.754000	0.32968	0.457000	0.33378	AGG		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		19	22	1	0	1.10513e-12	0.624587	1.17359e-12	19	22				
REV3L	5980	broad.mit.edu	37	6	111701250	111701250	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:111701250C>T	ENST00000358835.3	-	12	1843	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	REV3L_ENST00000368802.3_Missense_Mutation_p.M463I|REV3L_ENST00000435970.1_Missense_Mutation_p.M385I|REV3L_ENST00000368805.1_Missense_Mutation_p.M463I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	463					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AACTAAGCTCCATTTCCTCTT	0.348								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(1153-1155)atG>atA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							287.0	265.0	273.0					6																	111701250		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111701250C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1389G>A	6.37:g.111701250C>T	ENSP00000351697:p.Met463Ile					REV3L_ENST00000368802.3_Missense_Mutation_p.M463I|REV3L_ENST00000358835.3_Missense_Mutation_p.M463I|REV3L_ENST00000368805.1_Missense_Mutation_p.M463I	p.M385I			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	1971	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	463					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1155G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924349	0.52653	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.71	5.71	0.89125	Ribonuclease H-like (1);	0.104398	0.64402	D	0.000002	T	0.15132	0.0365	L	0.27053	0.805	0.35449	D	0.795549	B	0.31581	0.329	B	0.28849	0.095	T	0.05194	-1.0900	10	0.48119	T	0.1	-19.1918	19.8632	0.96793	0.0:1.0:0.0:0.0	.	463	O60673	DPOLZ_HUMAN	I	463;463;463;385	ENSP00000357792:M463I;ENSP00000357795:M463I;ENSP00000351697:M463I;ENSP00000402003:M385I	ENSP00000351697:M463I	M	-	3	0	REV3L	111807943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.746000	0.38288	2.699000	0.92147	0.655000	0.94253	ATG		0.348	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		114	290	0	0	0	0.870114	0	114	290				
PLXNA1	5361	broad.mit.edu	37	3	126708217	126708217	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:126708217C>T	ENST00000393409.2	+	1	781	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	PLXNA1_ENST00000251772.4_Silent_p.L238L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	261	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACCTCACGCTGCAGCTAGA	0.562																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(712-714)Ctg>Ttg		plexin A1							90.0	85.0	86.0					3																	126708217		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708217C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.781C>T	3.37:g.126708217C>T						PLXNA1_ENST00000393409.2_Silent_p.L261L	p.L238L			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	781	+			261			Sema.			Silent	SNP	ENST00000393409.2	37	c.712C>T	CCDS33847.2																																																																																				0.562	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	113	0	0	0	0.115264	0	3	113				
DNAH2	146754	broad.mit.edu	37	17	7728027	7728027	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7728027G>A	ENST00000572933.1	+	77	13295	c.11835G>A	c.(11833-11835)atG>atA	p.M3945I	DNAH2_ENST00000389173.2_Missense_Mutation_p.M3945I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3945	AAA 6. {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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCATCAAGATGACCACAGAGC	0.557																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11833-11835)atG>atA		dynein, axonemal, heavy chain 2							104.0	89.0	94.0					17																	7728027		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7728027G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11835G>A	17.37:g.7728027G>A	ENSP00000458355:p.Met3945Ile					DNAH2_ENST00000389173.2_Missense_Mutation_p.M3945I	p.M3945I			Q9P225	DYH2_HUMAN			77	13295	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3945			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11835G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434294	0.43224	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.05925	3.37	4.41	3.44	0.39384	Dynein heavy chain (1);	0.096038	0.64402	N	0.000002	T	0.06234	0.0161	L	0.38953	1.18	0.80722	D	1	B;B	0.27732	0.067;0.187	B;B	0.31245	0.047;0.126	T	0.39187	-0.9626	10	0.21540	T	0.41	.	10.89	0.46990	0.0939:0.0:0.9061:0.0	.	3906;3945	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3906;3945	ENSP00000373825:M3945I	ENSP00000353818:M3906I	M	+	3	0	DNAH2	7668752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.877000	0.63086	1.078000	0.41014	0.505000	0.49811	ATG		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		9	127	0	0	0	0.335167	0	9	127				
DHX58	79132	broad.mit.edu	37	17	40263345	40263345	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:40263345G>A	ENST00000251642.3	-	4	561	c.339C>T	c.(337-339)agC>agT	p.S113S		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	113	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCCTCGGGGCTGGTCAGTG	0.632																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)agC>agT		DEXH (Asp-Glu-X-His) box polypeptide 58							46.0	44.0	45.0					17																	40263345		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40263345G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.339C>T	17.37:g.40263345G>A							p.S113S	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	561	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	113			Helicase ATP-binding.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.339C>T	CCDS11416.1																																																																																				0.632	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		23	43	0	0	0	0.654019	0	23	43				
MYOM2	9172	broad.mit.edu	37	8	2005806	2005806	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:2005806C>A	ENST00000262113.4	+	5	609	c.468C>A	c.(466-468)atC>atA	p.I156I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	156	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCCTGAGATCCTGGTGCGGC	0.597																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(466-468)atC>atA		myomesin 2							88.0	77.0	81.0					8																	2005806		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2005806C>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.468C>A	8.37:g.2005806C>A						MYOM2_ENST00000523438.1_Intron	p.I156I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	5	609	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	156			Ig-like C2-type 1.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.468C>A	CCDS5957.1																																																																																				0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		11	19	1	0	5.26018e-13	0.608945	5.5931e-13	11	19				
OR3A1	4994	broad.mit.edu	37	17	3195465	3195465	+	Missense_Mutation	SNP	G	G	T	rs577166909		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:3195465G>T	ENST00000323404.1	-	1	411	c.412C>A	c.(412-414)Cgc>Agc	p.R138S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGACTCATGCGGGTGCTGTAG	0.582																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(412-414)Cgc>Agc		olfactory receptor, family 3, subfamily A, member 1							114.0	109.0	111.0					17																	3195465		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195465G>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.412C>A	17.37:g.3195465G>T	ENSP00000313803:p.Arg138Ser					RP11-64J4.2_ENST00000573491.1_RNA	p.R138S	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	411	-			138					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.412C>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494005	0.12702	.	.	ENSG00000180090	ENST00000323404	T	0.00381	7.63	5.31	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00241	0.0007	L	0.29908	0.895	0.09310	N	1	B	0.31752	0.338	B	0.36092	0.217	T	0.44019	-0.9355	10	0.23891	T	0.37	-13.4225	9.5346	0.39216	0.0756:0.0:0.784:0.1404	.	138	P47881	OR3A1_HUMAN	S	138	ENSP00000313803:R138S	ENSP00000313803:R138S	R	-	1	0	OR3A1	3142215	0.000000	0.05858	0.988000	0.46212	0.854000	0.48673	-0.890000	0.04140	1.466000	0.48025	0.650000	0.86243	CGC		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			48	104	1	0	3.16986e-14	0.870114	3.37904e-14	48	104				
ESR1	2099	broad.mit.edu	37	6	152265601	152265601	+	Silent	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:152265601A>C	ENST00000206249.3	+	4	1416	c.1054A>C	c.(1054-1056)Agg>Cgg	p.R352R	ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Silent_p.R352R|ESR1_ENST00000440973.1_Silent_p.R352R|ESR1_ENST00000338799.5_Silent_p.R352R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000427531.2_Silent_p.R179R	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	352	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCTGGCAGACAGGGAGCTGGT	0.493																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1054-1056)Agg>Cgg		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						94.0	87.0	89.0					6																	152265601		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265601A>C	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1054A>C	6.37:g.152265601A>C						ESR1_ENST00000443427.1_Silent_p.R352R|ESR1_ENST00000338799.5_Silent_p.R352R|ESR1_ENST00000544394.1_Silent_p.R179R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Silent_p.R352R|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000482101.1_3'UTR	p.R352R	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1424	+		Ovarian(120;0.0448)	352			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1054A>C	CCDS5234.1																																																																																				0.493	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			12	145	0	0	0	0.457914	0	12	145				
CACNA1F	778	broad.mit.edu	37	X	49071830	49071830	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:49071830T>C	ENST00000376265.2	-	28	3504	c.3443A>G	c.(3442-3444)tAc>tGc	p.Y1148C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Y1083C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Y1137C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1148	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGTTTTGGTACTCCTGCTC	0.532																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3442-3444)tAc>tGc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						152.0	105.0	121.0					X																	49071830		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071830T>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3443A>G	X.37:g.49071830T>C	ENSP00000365441:p.Tyr1148Cys					CACNA1F_ENST00000376251.1_Missense_Mutation_p.Y1083C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Y1137C	p.Y1148C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3504	-			1148			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3443A>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.953006	0.53293	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96685	-4.09;-4.02;-4.02	5.49	5.49	0.81192	.	0.205057	0.42964	D	0.000623	D	0.98438	0.9480	M	0.92268	3.29	0.42137	D	0.991495	D;D	0.89917	0.998;1.0	D;D	0.91635	0.911;0.999	D	0.99819	1.1046	10	0.87932	D	0	.	13.5019	0.61462	0.0:0.0:0.0:1.0	.	1137;1148	F5CIQ9;O60840	.;CAC1F_HUMAN	C	1083;1137;1148	ENSP00000365427:Y1083C;ENSP00000321618:Y1137C;ENSP00000365441:Y1148C	ENSP00000321618:Y1137C	Y	-	2	0	CACNA1F	48958774	1.000000	0.71417	0.998000	0.56505	0.550000	0.35303	3.792000	0.55476	1.832000	0.53329	0.486000	0.48141	TAC		0.532	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	39	0	0	0	0.184627	0	3	39				
LEMD2	221496	broad.mit.edu	37	6	33744975	33744975	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:33744975G>A	ENST00000293760.5	-	7	1217	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	LEMD2_ENST00000508327.1_Missense_Mutation_p.R98W|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	400					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TTTCGCCACCGATATTTTAGG	0.488																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1198-1200)Cgg>Tgg		LEM domain containing 2							142.0	159.0	153.0					6																	33744975		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744975G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1198C>T	6.37:g.33744975G>A	ENSP00000293760:p.Arg400Trp					LEMD2_ENST00000508327.1_Missense_Mutation_p.R98W|LEMD2_ENST00000502643.1_5'UTR	p.R400W	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			7	1217	-			400					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1198C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.275715|4.275715	0.80580|0.80580	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000293760;ENST00000508327|ENST00000504692	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Inner nuclear membrane protein MAN1 (1);|.	0.000000|.	0.52532|.	D|.	0.000065|.	T|T	0.63462|0.63462	0.2513|0.2513	M|M	0.61703|0.61703	1.905|1.905	0.43708|0.43708	D|D	0.996179|0.996179	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75020|.	0.985;0.959|.	T|T	0.62029|0.62029	-0.6940|-0.6940	9|5	0.62326|.	D|.	0.03|.	-3.3776|-3.3776	14.1956|14.1956	0.65670|0.65670	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	400;361|.	Q8NC56;A8MS91|.	LEMD2_HUMAN;.|.	W|L	400;98|47	.|.	ENSP00000293760:R400W|.	R|S	-|-	1|2	2|0	LEMD2|LEMD2	33852953|33852953	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.917000|0.917000	0.54804|0.54804	2.725000|2.725000	0.47294|0.47294	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.488	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		14	232	0	0	0	0.500413	0	14	232				
KIF5A	3798	broad.mit.edu	37	12	57976896	57976896	+	Silent	SNP	G	G	A	rs148434838		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57976896G>A	ENST00000455537.2	+	28	3307	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P	KIF5A_ENST00000286452.5_Silent_p.P922P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1011	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GTGACCTGCCGTGTGGCTATG	0.532											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18858	0.001		0.0	False		,,,				2504	0.0					ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(3031-3033)ccG>ccA		kinesin family member 5A		G		2,4404	4.2+/-10.8	0,2,2201	86.0	65.0	72.0		3033	-9.6	0.1	12	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF5A	NM_004984.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		1011/1033	57976896	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57976896G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.3033G>A	12.37:g.57976896G>A			OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1027	KIF5A_ENST00000286452.5_Silent_p.P922P	p.P1011P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			28	3307	+			1011			Globular.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.3033G>A	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		10	32	0	0	0	0.435327	0	10	32				
KNDC1	85442	broad.mit.edu	37	10	135013087	135013087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:135013087C>T	ENST00000304613.3	+	15	2905	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	KNDC1_ENST00000368571.2_Nonsense_Mutation_p.Q897*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Q964*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	962					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGTCAACGGGCAGGCGTCACC	0.612																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2884-2886)Cag>Tag		kinase non-catalytic C-lobe domain (KIND) containing 1							114.0	106.0	109.0					10																	135013087		2202	4300	6502	SO:0001587	stop_gained	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135013087C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2884C>T	10.37:g.135013087C>T	ENSP00000304437:p.Gln962*					KNDC1_ENST00000368571.2_Nonsense_Mutation_p.Q897*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Q964*	p.Q962*			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	15	2905	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	962					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	ENST00000304613.3	37	c.2884C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	38	6.765347	0.97821	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.99	0.235	0.15431	.	1.839510	0.03162	N	0.169452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-7.5302	12.2481	0.54583	0.3474:0.6526:0.0:0.0	.	.	.	.	X	962;964;897	.	ENSP00000304437:Q962X	Q	+	1	0	KNDC1	134863077	0.253000	0.23982	0.003000	0.11579	0.068000	0.16541	0.080000	0.14802	0.162000	0.19483	0.313000	0.20887	CAG		0.612	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		31	71	0	0	0	0.760397	0	31	71				
PHTF1	10745	broad.mit.edu	37	1	114243546	114243546	+	Missense_Mutation	SNP	A	A	G	rs191119223		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:114243546A>G	ENST00000369604.1	-	16	2399	c.1916T>C	c.(1915-1917)cTg>cCg	p.L639P	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.L586P|PHTF1_ENST00000369598.1_Missense_Mutation_p.L594P|PHTF1_ENST00000369600.1_Missense_Mutation_p.L586P|PHTF1_ENST00000393357.2_Missense_Mutation_p.L639P			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	639					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATCATTCAGGAAAGTTTT	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		18118	0.001		0.0	False		,,,				2504	0.0					ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1915-1917)cTg>cCg		putative homeodomain transcription factor 1							71.0	74.0	73.0					1																	114243546		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114243546A>G	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1916T>C	1.37:g.114243546A>G	ENSP00000358617:p.Leu639Pro					PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.L586P|PHTF1_ENST00000393357.2_Missense_Mutation_p.L639P|PHTF1_ENST00000369600.1_Missense_Mutation_p.L586P|PHTF1_ENST00000369598.1_Missense_Mutation_p.L594P	p.L639P			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2399	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	639					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1916T>C	CCDS861.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	23.6	4.436656	0.83885	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.69088	0.3072	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73946	-0.3822	9	0.87932	D	0	-10.3365	15.5622	0.76258	1.0:0.0:0.0:0.0	.	639	Q9UMS5	PHTF1_HUMAN	P	594;639;586;594;586;639	.	ENSP00000358609:L586P	L	-	2	0	PHTF1	114045069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.300000	0.96151	2.077000	0.62373	0.528000	0.53228	CTG		0.333	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		42	42	0	0	0	0.870114	0	42	42				
MXRA5	25878	broad.mit.edu	37	X	3235384	3235384	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:3235384G>A	ENST00000217939.6	-	6	6492	c.6338C>T	c.(6337-6339)gCg>gTg	p.A2113V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2113	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTTGGGCGCGAGGTTGCG	0.667																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6337-6339)gCg>gTg		matrix-remodelling associated 5							37.0	32.0	33.0					X																	3235384		2202	4300	6502	SO:0001583	missense	25878					extracellular region		g.chrX:3235384G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6338C>T	X.37:g.3235384G>A	ENSP00000217939:p.Ala2113Val						p.A2113V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6492	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2113			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6338C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	19.36	3.813245	0.70912	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68025	-0.3	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.229752	0.21380	U	0.075499	T	0.56411	0.1983	N	0.12611	0.24	0.09310	N	1	D	0.58970	0.984	P	0.49597	0.616	T	0.53472	-0.8434	10	0.37606	T	0.19	.	15.1094	0.72343	0.0:0.0:1.0:0.0	.	2113	Q9NR99	MXRA5_HUMAN	V	2113	ENSP00000217939:A2113V	ENSP00000217939:A2113V	A	-	2	0	MXRA5	3245384	0.092000	0.21681	0.997000	0.53966	0.969000	0.65631	2.689000	0.46993	1.440000	0.47531	0.597000	0.82753	GCG		0.667	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		12	13	0	0	0	0.479597	0	12	13				
CORO2B	10391	broad.mit.edu	37	15	69011755	69011755	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:69011755C>T	ENST00000566799.1	+	11	1204	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	CORO2B_ENST00000261861.5_Missense_Mutation_p.P387L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P387L|CORO2B_ENST00000543950.1_Missense_Mutation_p.P387L			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	392					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCTTTAGATCCCGTGCTGATG	0.478																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1159-1161)cCc>cTc		coronin, actin binding protein, 2B							159.0	149.0	152.0					15																	69011755		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011755C>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1175C>T	15.37:g.69011755C>T	ENSP00000454783:p.Pro392Leu					CORO2B_ENST00000261861.5_Missense_Mutation_p.P387L|CORO2B_ENST00000566799.1_Missense_Mutation_p.P392L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P387L	p.P387L	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			11	1514	+			392					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1160C>T	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636337	0.87760	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.33438	1.41;1.41	5.49	5.49	0.81192	Domain of unknown function DUF1900 (1);	0.653435	0.15405	N	0.264092	T	0.58836	0.2150	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60120	-0.7325	10	0.87932	D	0	-13.496	17.9208	0.88965	0.0:1.0:0.0:0.0	.	392	Q9UQ03	COR2B_HUMAN	L	392;387;387	ENSP00000446250:P387L;ENSP00000443819:P387L	ENSP00000261861:P392L	P	+	2	0	CORO2B	66798809	1.000000	0.71417	0.992000	0.48379	0.880000	0.50808	7.364000	0.79526	2.582000	0.87167	0.462000	0.41574	CCC		0.478	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		91	201	0	0	0	0.870114	0	91	201				
EPHA5	2044	broad.mit.edu	37	4	66231674	66231674	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:66231674T>C	ENST00000273854.3	-	11	2626	c.2026A>G	c.(2026-2028)Acc>Gcc	p.T676A	EPHA5_ENST00000432638.2_Missense_Mutation_p.T513A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T654A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T677A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTCAATGGTGATACATGAT	0.383										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2026-2028)Acc>Gcc		EPH receptor A5							248.0	199.0	215.0					4																	66231674		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66231674T>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2026A>G	4.37:g.66231674T>C	ENSP00000273854:p.Thr676Ala	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Missense_Mutation_p.T513A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T654A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T677A	p.T676A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			11	2626	-			676			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2026A>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424876	0.43020	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.54	4.33	0.51752	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.101104	0.43416	D	0.000568	T	0.74733	0.3755	L	0.39898	1.24	0.42463	D	0.992797	B;B;B;B	0.13594	0.0;0.002;0.0;0.008	B;B;B;B	0.12837	0.001;0.007;0.001;0.008	T	0.69232	-0.5199	10	0.52906	T	0.07	.	8.3934	0.32542	0.1309:0.0:0.1371:0.732	.	655;677;654;676	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	676;513;654;677	ENSP00000273854:T676A;ENSP00000389208:T513A;ENSP00000346899:T654A;ENSP00000427638:T677A	ENSP00000273854:T676A	T	-	1	0	EPHA5	65914269	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.887000	0.48586	0.906000	0.36621	0.455000	0.32223	ACC		0.383	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		89	73	0	0	0	0.870114	0	89	73				
STK38L	23012	broad.mit.edu	37	12	27461270	27461270	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:27461270A>G	ENST00000389032.3	+	4	355		c.e4-1		STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTTTTTTAATAGAAAAAGTTA	0.338																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.e4-1		serine/threonine kinase 38 like							44.0	49.0	47.0					12																	27461270		2203	4300	6503	SO:0001630	splice_region_variant	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27461270A>G	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.187-1A>G	12.37:g.27461270A>G						STK38L_ENST00000539577.1_Intron		NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			4	355	+	Colorectal(261;0.0847)								Splice_Site	SNP	ENST00000389032.3	37		CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759361	0.69763	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8778	0.63665	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK38L	27352537	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	8.890000	0.92477	1.832000	0.53329	0.377000	0.23210	.		0.338	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	Intron	51	81	0	0	0	0.870114	0	51	81				
CELSR2	1952	broad.mit.edu	37	1	109806260	109806260	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:109806260G>A	ENST00000271332.3	+	9	4923	c.4862G>A	c.(4861-4863)gGc>gAc	p.G1621D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1621	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACTTCCTGGGCAGCAGCCTG	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4861-4863)gGc>gAc		cadherin, EGF LAG seven-pass G-type receptor 2							113.0	101.0	105.0					1																	109806260		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806260G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4862G>A	1.37:g.109806260G>A	ENSP00000271332:p.Gly1621Asp		OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.G1621D	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	4923	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1621			Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4862G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752812	0.89753	.	.	ENSG00000143126	ENST00000271332	T	0.74526	-0.85	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.84790	0.5550	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.85057	0.0932	9	0.52906	T	0.07	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	1621	Q9HCU4	CELR2_HUMAN	D	1621	ENSP00000271332:G1621D	ENSP00000271332:G1621D	G	+	2	0	CELSR2	109607783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.044000	0.71012	2.686000	0.91538	0.561000	0.74099	GGC		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		42	41	0	0	0	0.870114	0	42	41				
USP36	57602	broad.mit.edu	37	17	76794524	76794524	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76794524G>A	ENST00000542802.3	-	20	3793	c.3350C>T	c.(3349-3351)gCc>gTc	p.A1117V	USP36_ENST00000312010.6_Missense_Mutation_p.A1117V|USP36_ENST00000449938.2_Missense_Mutation_p.A722V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1115					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCTGAGGCTGGCAGCCTTTGC	0.542																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(3349-3351)gCc>gTc		ubiquitin specific peptidase 36							134.0	128.0	130.0					17																	76794524		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76794524G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3350C>T	17.37:g.76794524G>A	ENSP00000441214:p.Ala1117Val					USP36_ENST00000542802.2_Missense_Mutation_p.A1117V|USP36_ENST00000449938.2_Missense_Mutation_p.A722V	p.A1117V	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		20	3674	-			1115					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.3350C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518942	0.64634	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.23552	2.93;1.9;2.93	4.52	3.47	0.39725	.	0.969853	0.08457	N	0.942926	T	0.29652	0.0740	L	0.54323	1.7	0.18873	N	0.999986	P;B	0.38078	0.617;0.437	B;B	0.39660	0.306;0.115	T	0.15492	-1.0435	10	0.40728	T	0.16	-4.2863	11.949	0.52944	0.0:0.1753:0.8247:0.0	.	1117;722	Q9P275-2;E9PEW0	.;.	V	1117;722;1117	ENSP00000310590:A1117V;ENSP00000401119:A722V;ENSP00000441214:A1117V	ENSP00000310590:A1117V	A	-	2	0	USP36	74306119	0.947000	0.32204	0.659000	0.29680	0.589000	0.36550	1.545000	0.36169	2.047000	0.60756	0.450000	0.29827	GCC		0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		4	87	0	0	0	0.150653	0	4	87				
MTOR	2475	broad.mit.edu	37	1	11182163	11182163	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:11182163A>G	ENST00000361445.4	-	48	6759	c.6683T>C	c.(6682-6684)aTc>aCc	p.I2228T	MTOR_ENST00000376838.1_Missense_Mutation_p.I433T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2228	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CGATAAAGGGATGACAGCGTA	0.537																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6682-6684)aTc>aCc		mechanistic target of rapamycin (serine/threonine kinase)							116.0	117.0	116.0					1																	11182163		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11182163A>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6683T>C	1.37:g.11182163A>G	ENSP00000354558:p.Ile2228Thr					MTOR_ENST00000376838.1_Missense_Mutation_p.I433T	p.I2228T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			48	6759	-			2228			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6683T>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956179	0.73902	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;D	0.82167	-0.52;-1.58	5.36	5.36	0.76844	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	N	0.26092	0.79	0.80722	D	1	B	0.27951	0.195	B	0.37387	0.248	T	0.78748	-0.2083	10	0.66056	D	0.02	-10.3444	15.3768	0.74610	1.0:0.0:0.0:0.0	.	2228	P42345	MTOR_HUMAN	T	2228;433	ENSP00000354558:I2228T;ENSP00000366034:I433T	ENSP00000354558:I2228T	I	-	2	0	MTOR	11104750	1.000000	0.71417	0.979000	0.43373	0.749000	0.42624	8.862000	0.92283	2.030000	0.59900	0.528000	0.53228	ATC		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		15	20	0	0	0	0.520397	0	15	20				
PRKD3	23683	broad.mit.edu	37	2	37501708	37501708	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:37501708C>T	ENST00000379066.1	-	11	2269	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	PRKD3_ENST00000234179.2_Missense_Mutation_p.D503N			O94806	KPCD3_HUMAN	protein kinase D3	503	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGAGAGCTGTCCCCATTGTTC	0.448																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1507-1509)Gac>Aac		protein kinase D3							138.0	122.0	128.0					2																	37501708		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37501708C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1507G>A	2.37:g.37501708C>T	ENSP00000368356:p.Asp503Asn					PRKD3_ENST00000234179.2_Missense_Mutation_p.D503N	p.D503N			O94806	KPCD3_HUMAN			11	2269	-		all_hematologic(82;0.21)	503			PH.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1507G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282470	0.23392	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.64803	-0.12;-0.12;1.96	5.57	3.74	0.42951	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.444786	0.24975	N	0.034107	T	0.39809	0.1092	N	0.19112	0.55	0.26389	N	0.976615	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17018	-1.0383	10	0.11182	T	0.66	-6.9895	7.3214	0.26529	0.0:0.702:0.0:0.298	.	503;503	O94806-2;O94806	.;KPCD3_HUMAN	N	503;503;14	ENSP00000368356:D503N;ENSP00000234179:D503N;ENSP00000398743:D14N	ENSP00000234179:D503N	D	-	1	0	PRKD3	37355212	0.557000	0.26546	1.000000	0.80357	0.948000	0.59901	1.053000	0.30442	1.314000	0.45095	0.591000	0.81541	GAC		0.448	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		8	167	0	0	0	0.278610	0	8	167				
TEX15	56154	broad.mit.edu	37	8	30701622	30701622	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:30701622T>C	ENST00000256246.2	-	1	4986	c.4912A>G	c.(4912-4914)Aag>Gag	p.K1638E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1638					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACAAACCTTAGTTTCTTCC	0.368																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4912-4914)Aag>Gag		testis expressed 15							50.0	51.0	50.0					8																	30701622		2202	4300	6502	SO:0001583	missense	56154							g.chr8:30701622T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4912A>G	8.37:g.30701622T>C	ENSP00000256246:p.Lys1638Glu						p.K1638E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4986	-			1638						Missense_Mutation	SNP	ENST00000256246.2	37	c.4912A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	6.537	0.467408	0.12402	.	.	ENSG00000133863	ENST00000256246	T	0.11385	2.78	5.92	-1.22	0.09494	.	0.674762	0.14234	N	0.332530	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	B	0.24721	0.11	B	0.22152	0.038	T	0.31586	-0.9938	10	0.87932	D	0	.	2.375	0.04339	0.1226:0.3391:0.1262:0.4121	.	1638	Q9BXT5	TEX15_HUMAN	E	1638	ENSP00000256246:K1638E	ENSP00000256246:K1638E	K	-	1	0	TEX15	30821164	0.000000	0.05858	0.298000	0.25002	0.921000	0.55340	0.169000	0.16641	0.156000	0.19299	0.533000	0.62120	AAG		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	130	0	0	0	0.248553	0	7	130				
GCN1L1	10985	broad.mit.edu	37	12	120599736	120599736	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:120599736C>G	ENST00000300648.6	-	21	2302	c.2290G>C	c.(2290-2292)Gcc>Ccc	p.A764P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	764					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCATAATGGCAAACTCCTCC	0.582																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2290-2292)Gcc>Ccc		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							78.0	86.0	83.0					12																	120599736		2083	4245	6328	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599736C>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2290G>C	12.37:g.120599736C>G	ENSP00000300648:p.Ala764Pro						p.A764P	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			21	2302	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		764					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2290G>C	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366333	0.61513	.	.	ENSG00000089154	ENST00000300648	T	0.51325	0.71	5.8	4.9	0.64082	Armadillo-type fold (1);	0.051107	0.85682	D	0.000000	T	0.50939	0.1645	M	0.71581	2.175	0.80722	D	1	B	0.32526	0.374	B	0.35470	0.203	T	0.49504	-0.8933	10	0.30854	T	0.27	.	16.4935	0.84208	0.1315:0.8685:0.0:0.0	.	764	Q92616	GCN1L_HUMAN	P	764	ENSP00000300648:A764P	ENSP00000300648:A764P	A	-	1	0	GCN1L1	119084119	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.521000	0.67086	1.443000	0.47586	0.561000	0.74099	GCC		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			33	90	0	0	0	0.760397	0	33	90				
TREML4	285852	broad.mit.edu	37	6	41197850	41197850	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:41197850T>C	ENST00000341495.2	+	4	600	c.496T>C	c.(496-498)Tct>Cct	p.S166P	TREML4_ENST00000448827.2_Missense_Mutation_p.S166P	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	166						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CATCAATGGCTCTGAGACCAG	0.547																																						ENST00000341495.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(496-498)Tct>Cct		triggering receptor expressed on myeloid cells-like 4							104.0	97.0	99.0					6																	41197850		2203	4300	6503	SO:0001583	missense	285852					extracellular region		g.chr6:41197850T>C	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.496T>C	6.37:g.41197850T>C	ENSP00000342570:p.Ser166Pro					TREML4_ENST00000448827.2_Missense_Mutation_p.S166P	p.S166P	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN			4	600	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		166					B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	c.496T>C	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.300957	0.40694	.	.	ENSG00000188056	ENST00000341495;ENST00000448827	T;T	0.08458	3.09;3.09	3.27	2.05	0.26809	.	.	.	.	.	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.47470	0.548	T	0.43766	-0.9371	9	0.31617	T	0.26	0.4588	5.9251	0.19108	0.2308:0.0:0.0:0.7692	.	166	Q6UXN2	TRML4_HUMAN	P	166	ENSP00000342570:S166P;ENSP00000418078:S166P	ENSP00000342570:S166P	S	+	1	0	TREML4	41305828	0.004000	0.15560	0.216000	0.23742	0.094000	0.18550	0.650000	0.24858	0.594000	0.29761	0.482000	0.46254	TCT		0.547	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			75	108	0	0	0	0.870114	0	75	108				
EPPK1	83481	broad.mit.edu	37	8	144941154	144941154	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:144941154G>A	ENST00000525985.1	-	2	6339	c.6268C>T	c.(6268-6270)Cgg>Tgg	p.R2090W				P58107	EPIPL_HUMAN	epiplakin 1	2090						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGAGTCCCGTGCAGCCTTG	0.597																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6268-6270)Cgg>Tgg		epiplakin 1							79.0	86.0	84.0					8																	144941154		2162	4261	6423	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941154G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6268C>T	8.37:g.144941154G>A	ENSP00000436337:p.Arg2090Trp						p.R2090W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6339	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2090					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6268C>T		.	.	.	.	.	.	.	.	.	.	G	16.85	3.236911	0.58886	.	.	ENSG00000227184	ENST00000525985	T	0.68765	-0.35	4.71	-6.56	0.01848	.	.	.	.	.	T	0.52468	0.1736	L	0.27053	0.805	0.09310	N	1	D	0.56746	0.977	P	0.47162	0.54	T	0.57980	-0.7717	9	0.66056	D	0.02	.	9.2318	0.37441	0.0:0.274:0.5665:0.1596	.	2090	E9PPU0	.	W	2090	ENSP00000436337:R2090W	ENSP00000436337:R2090W	R	-	1	2	EPPK1	145013142	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.063000	0.01388	-1.513000	0.01789	0.460000	0.39030	CGG		0.597	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	163	0	0	0	0.361761	0	10	163				
DSC3	1825	broad.mit.edu	37	18	28598103	28598103	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:28598103A>G	ENST00000360428.4	-	9	1277	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	DSC3_ENST00000434452.1_Silent_p.N399N	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	399	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTCCATTTTCATTTCCCTTTA	0.303																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1195-1197)aaT>aaC		desmocollin 3							113.0	110.0	111.0					18																	28598103		2203	4292	6495	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598103A>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1197T>C	18.37:g.28598103A>G						DSC3_ENST00000360428.4_Silent_p.N399N	p.N399N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		9	1351	-			399			Cadherin 3.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1197T>C	CCDS32810.1																																																																																				0.303	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		85	162	0	0	0	0.870114	0	85	162				
GDF10	2662	broad.mit.edu	37	10	48429372	48429372	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:48429372G>A	ENST00000224605.2	-	2	779	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	172					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGAAGAGCAGGTGCTGGCGT	0.741																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(514-516)Ctg>Ttg		growth differentiation factor 10							15.0	22.0	20.0					10																	48429372		2196	4284	6480	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429372G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.514C>T	10.37:g.48429372G>A							p.L172L	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	779	-			172					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.514C>T	CCDS7220.1																																																																																				0.741	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		4	20	0	0	0	0.217242	0	4	20				
SH3GL2	6456	broad.mit.edu	37	9	17787382	17787382	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:17787382A>G	ENST00000380607.4	+	5	456	c.336A>G	c.(334-336)ccA>ccG	p.P112P	SH3GL2_ENST00000537391.1_Silent_p.P65P	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCCTAGGCCCAGCACTTGGTG	0.468																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(334-336)ccA>ccG		SH3-domain GRB2-like 2							104.0	104.0	104.0					9																	17787382		2203	4300	6503	SO:0001819	synonymous_variant	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17787382A>G	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.336A>G	9.37:g.17787382A>G						SH3GL2_ENST00000537391.1_Silent_p.P65P	p.P112P	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	5	456	+			112			BAR.|Binds and tubulates liposomes (By similarity).		B2R618|Q9NQK5	Silent	SNP	ENST00000380607.4	37	c.336A>G	CCDS6483.1																																																																																				0.468	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		55	61	0	0	0	0.870114	0	55	61				
GLO1	2739	broad.mit.edu	37	6	38652183	38652183	+	Missense_Mutation	SNP	G	G	A	rs371576917		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:38652183G>A	ENST00000373365.4	-	3	361	c.275C>T	c.(274-276)gCg>gTg	p.A92V	GLO1_ENST00000470973.1_5'Flank	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCTGGAGAGCGCCCAGGCTAT	0.303																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(274-276)gCg>gTg		glyoxalase I	Glutathione(DB00143)	G	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	68.0	62.0	64.0		275	-4.7	0.0	6		64	0,8598		0,0,4299	no	missense	GLO1	NM_006708.2	64	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	92/185	38652183	1,13001	2202	4299	6501	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38652183G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.275C>T	6.37:g.38652183G>A	ENSP00000362463:p.Ala92Val						p.A92V	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			3	361	-			92					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.275C>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	8.300	0.819806	0.16678	2.27E-4	0.0	ENSG00000124767	ENST00000373365	T	0.69175	-0.38	6.02	-4.73	0.03259	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.412177	0.29417	N	0.012205	T	0.21550	0.0519	N	0.04373	-0.215	0.09310	N	0.999998	B	0.13145	0.007	B	0.08055	0.003	T	0.07578	-1.0765	10	0.24483	T	0.36	-12.2015	20.0922	0.97824	0.1281:0.0:0.8719:0.0	.	92	Q04760	LGUL_HUMAN	V	92	ENSP00000362463:A92V	ENSP00000362463:A92V	A	-	2	0	GLO1	38760161	0.961000	0.32948	0.001000	0.08648	0.212000	0.24457	1.503000	0.35715	-0.738000	0.04817	-0.345000	0.07892	GCG		0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		10	32	0	0	0	0.335167	0	10	32				
TM2D2	83877	broad.mit.edu	37	8	38848862	38848862	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:38848862T>C	ENST00000456397.2	-	4	727	c.634A>G	c.(634-636)Act>Gct	p.T212A	TM2D2_ENST00000522434.1_5'Flank|TM2D2_ENST00000397070.2_Missense_Mutation_p.T169A|TM2D2_ENST00000412303.1_Missense_Mutation_p.T169A|TM2D2_ENST00000456845.2_Missense_Mutation_p.T169A	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	212						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TAGTAAACAGTGCACCAGTTG	0.483																																						ENST00000412303.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(505-507)Act>Gct		TM2 domain containing 2							56.0	48.0	51.0					8																	38848862		2203	4300	6503	SO:0001583	missense	83877					integral to membrane		g.chr8:38848862T>C	AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.634A>G	8.37:g.38848862T>C	ENSP00000416050:p.Thr212Ala					TM2D2_ENST00000456845.2_Missense_Mutation_p.T169A|TM2D2_ENST00000456397.2_Missense_Mutation_p.T212A|TM2D2_ENST00000397070.2_Missense_Mutation_p.T169A	p.T169A	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	899	-		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	212					B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	c.505A>G	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974572	0.74246	.	.	ENSG00000169490	ENST00000456845;ENST00000456397;ENST00000412303;ENST00000397070	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	N	0.04508	-0.205	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.80764	0.994;0.978	T	0.56920	-0.7899	9	0.24483	T	0.36	-15.8878	16.1307	0.81436	0.0:0.0:0.0:1.0	.	169;212	Q9BX73-2;Q9BX73	.;TM2D2_HUMAN	A	169;212;169;169	.	ENSP00000380260:T169A	T	-	1	0	TM2D2	38968019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.933000	0.87642	2.209000	0.71365	0.459000	0.35465	ACT		0.483	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		23	23	0	0	0	0.654019	0	23	23				
TENM2	57451	broad.mit.edu	37	5	167654954	167654954	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:167654954A>G	ENST00000518659.1	+	25	5378	c.5339A>G	c.(5338-5340)tAt>tGt	p.Y1780C	TENM2_ENST00000520394.1_Missense_Mutation_p.Y1541C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1604C|TENM2_ENST00000519204.1_Missense_Mutation_p.Y1659C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y1779C|CTB-178M22.2_ENST00000519795.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1780					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGGGTGATGTATGCTAATGGG	0.517																																						ENST00000519204.1																			0											c.(4975-4977)tAt>tGt		teneurin transmembrane protein 2							65.0	65.0	65.0					5																	167654954		1972	4170	6142	SO:0001583	missense	57451							g.chr5:167654954A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5339A>G	5.37:g.167654954A>G	ENSP00000429430:p.Tyr1780Cys					TENM2_ENST00000520394.1_Missense_Mutation_p.Y1541C|TENM2_ENST00000518659.1_Missense_Mutation_p.Y1780C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y1779C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1604C	p.Y1659C							24	5094	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4976A>G		.	.	.	.	.	.	.	.	.	.	A	20.9	4.072892	0.76415	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89810	-2.1;-2.09;-2.2;-2.55;-2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.987;0.971;0.997	D	0.93896	0.7184	10	0.48119	T	0.1	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	1779;1780;1541	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	1780;1779;1659;1541;1604	ENSP00000429430:Y1780C;ENSP00000438635:Y1779C;ENSP00000428964:Y1659C;ENSP00000427874:Y1541C;ENSP00000384905:Y1604C	ENSP00000384905:Y1604C	Y	+	2	0	ODZ2	167587532	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.500000	0.81588	2.153000	0.67306	0.459000	0.35465	TAT		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		13	28	0	0	0	0.435327	0	13	28				
ZNF221	7638	broad.mit.edu	37	19	44471168	44471168	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:44471168C>A	ENST00000251269.5	+	6	1842	c.1514C>A	c.(1513-1515)cCt>cAt	p.P505H	ZNF221_ENST00000587682.1_Missense_Mutation_p.P505H|ZNF221_ENST00000592350.1_Missense_Mutation_p.P505H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGGGAAAAACCTTTCAAATGT	0.443																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1513-1515)cCt>cAt		zinc finger protein 221							81.0	80.0	80.0					19																	44471168		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471168C>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1514C>A	19.37:g.44471168C>A	ENSP00000251269:p.Pro505His					ZNF221_ENST00000592350.1_Missense_Mutation_p.P505H|ZNF221_ENST00000587682.1_Missense_Mutation_p.P505H	p.P505H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1842	+		Prostate(69;0.0352)	505					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1514C>A	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.402057	0.83120	.	.	ENSG00000159905	ENST00000251269	T	0.29397	1.57	2.63	2.63	0.31362	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56529	0.1991	M	0.83692	2.655	0.31497	N	0.665268	D	0.89917	1.0	D	0.79784	0.993	T	0.64415	-0.6413	9	0.87932	D	0	.	12.3732	0.55265	0.0:1.0:0.0:0.0	.	505	Q9UK13	ZN221_HUMAN	H	505	ENSP00000251269:P505H	ENSP00000251269:P505H	P	+	2	0	ZNF221	49163008	0.148000	0.22702	0.035000	0.18076	0.794000	0.44872	1.560000	0.36331	1.460000	0.47911	0.313000	0.20887	CCT		0.443	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			62	111	1	0	2.53126e-37	0.870114	2.82372e-37	62	111				
NLRC5	84166	broad.mit.edu	37	16	57060873	57060873	+	Missense_Mutation	SNP	C	C	A	rs199502190		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:57060873C>A	ENST00000262510.6	+	6	2243	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	NLRC5_ENST00000308149.7_Missense_Mutation_p.P673H|NLRC5_ENST00000436936.1_Missense_Mutation_p.P673H|NLRC5_ENST00000539144.1_Missense_Mutation_p.P673H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	673					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GATGGCTGTCCCCTGGAGCCC	0.597																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2017-2019)cCc>cAc		NLR family, CARD domain containing 5							57.0	53.0	54.0					16																	57060873		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060873C>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2018C>A	16.37:g.57060873C>A	ENSP00000262510:p.Pro673His					NLRC5_ENST00000262510.6_Missense_Mutation_p.P673H|NLRC5_ENST00000539144.1_Missense_Mutation_p.P673H|NLRC5_ENST00000308149.7_Missense_Mutation_p.P673H	p.P673H			Q86WI3	NLRC5_HUMAN			6	2243	+		all_neural(199;0.225)	673					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2018C>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956446	0.53293	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.37	3.42	0.39159	.	0.512122	0.14733	N	0.301636	T	0.59959	0.2232	L	0.60455	1.87	0.09310	N	0.999999	D;D;B;P	0.76494	0.999;0.995;0.337;0.806	D;P;B;P	0.65443	0.935;0.885;0.199;0.571	T	0.48163	-0.9059	10	0.39692	T	0.17	.	10.0021	0.41935	0.0:0.7722:0.0:0.2278	.	673;673;673;673	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	673;673;673;147;673;180;28	ENSP00000262510:P673H;ENSP00000308886:P673H;ENSP00000389739:P673H;ENSP00000441727:P673H;ENSP00000441597:P180H;ENSP00000440153:P28H	ENSP00000262510:P673H	P	+	2	0	NLRC5	55618374	0.105000	0.21958	0.858000	0.33744	0.957000	0.61999	1.454000	0.35178	0.651000	0.30788	0.561000	0.74099	CCC		0.597	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		30	39	1	0	1.88708e-17	0.729181	2.03485e-17	30	39				
ARFGEF2	10564	broad.mit.edu	37	20	47612354	47612354	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:47612354G>A	ENST00000371917.4	+	23	3156	c.3156G>A	c.(3154-3156)caG>caA	p.Q1052Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1052					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATAAAAGACAGATGGCCAGCT	0.433																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3154-3156)caG>caA		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							202.0	190.0	194.0					20																	47612354		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47612354G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3156G>A	20.37:g.47612354G>A							p.Q1052Q	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		23	3156	+			1052					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.3156G>A	CCDS13411.1																																																																																				0.433	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		31	56	0	0	0	0.870114	0	31	56				
EDRF1	26098	broad.mit.edu	37	10	127418872	127418872	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:127418872A>T	ENST00000356792.4	+	9	1264	c.1032A>T	c.(1030-1032)ccA>ccT	p.P344P	C10orf137_ENST00000337623.3_Silent_p.P310P	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACAACAAACCAATTAATGTGC	0.303																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(928-930)ccA>ccT		chromosome 10 open reading frame 137							207.0	197.0	200.0					10																	127418872		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127418872A>T																												ENST00000356792.4:c.1032A>T	10.37:g.127418872A>T						C10orf137_ENST00000356792.4_Silent_p.P344P	p.P310P	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			8	1035	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	344					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.930A>T	CCDS55733.1																																																																																				0.303	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			79	149	0	0	0	0.870114	0	79	149				
GPR149	344758	broad.mit.edu	37	3	154146817	154146817	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:154146817G>A	ENST00000389740.2	-	1	687	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	196					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAGCGTACACGATAGAGAGGA	0.642																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(586-588)atC>atT		G protein-coupled receptor 149							48.0	54.0	52.0					3																	154146817		2033	4182	6215	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146817G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.588C>T	3.37:g.154146817G>A							p.I196I	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	687	-			196						Silent	SNP	ENST00000389740.2	37	c.588C>T	CCDS43162.1																																																																																				0.642	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		30	57	0	0	0	0.717897	0	30	57				
ANKH	56172	broad.mit.edu	37	5	14713040	14713040	+	Silent	SNP	G	G	A	rs376655130		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:14713040G>A	ENST00000284268.6	-	11	1638	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	ANKH_ENST00000535119.1_Silent_p.G238G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	436					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCCCACAAAGCCCGCCAGGA	0.622																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1306-1308)ggC>ggT		ANKH inorganic pyrophosphate transport regulator		G		2,4404	4.2+/-10.8	0,2,2201	32.0	34.0	33.0		1308	-6.5	0.8	5		33	0,8600		0,0,4300	no	coding-synonymous	ANKH	NM_054027.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		436/493	14713040	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14713040G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1308C>T	5.37:g.14713040G>A						ANKH_ENST00000535119.1_Silent_p.G238G	p.G436G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			11	1638	-			436					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.1308C>T	CCDS3885.1																																																																																				0.622	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		12	21	0	0	0	0.479597	0	12	21				
ANKRD13D	338692	broad.mit.edu	37	11	67068486	67068486	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:67068486G>A	ENST00000447274.2	+	11	2013	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E280K|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.E17K|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E367K|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E280K			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	280						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGGCTGAGTGAAGAGCACCC	0.602																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(838-840)Gaa>Aaa		ankyrin repeat domain 13 family, member D							121.0	95.0	104.0					11																	67068486		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67068486G>A	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.838G>A	11.37:g.67068486G>A	ENSP00000402616:p.Glu280Lys					ANKRD13D_ENST00000515828.1_Missense_Mutation_p.E17K|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E367K|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E280K|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E280K	p.E280K			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	2013	+			280					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.074552	0.94000	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.71871	2.18	0.80722	D	1	D;P;B	0.55385	0.971;0.913;0.334	P;P;B	0.54706	0.717;0.759;0.297	T	0.60172	-0.7315	10	0.46703	T	0.11	-16.4398	17.7879	0.88543	0.0:0.0:1.0:0.0	.	17;367;280	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	K	280;367;280;280;17	ENSP00000402616:E280K;ENSP00000427130:E367K;ENSP00000310874:E280K;ENSP00000444404:E280K;ENSP00000443977:E17K	ENSP00000310874:E280K	E	+	1	0	ANKRD13D	66825062	1.000000	0.71417	0.992000	0.48379	0.643000	0.38383	9.574000	0.98184	2.517000	0.84864	0.561000	0.74099	GAA		0.602	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		17	22	0	0	0	0.520397	0	17	22				
FAM178A	55719	broad.mit.edu	37	10	102676519	102676519	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:102676519A>G	ENST00000238961.4	+	3	919	c.377A>G	c.(376-378)cAt>cGt	p.H126R	FAM178A_ENST00000370269.3_Missense_Mutation_p.H126R|FAM178A_ENST00000370271.3_Missense_Mutation_p.H126R	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	126						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CATGAAGATCATGGTATACAT	0.408																																						ENST00000238961.3																			0											c.(376-378)cAt>cGt		family with sequence similarity 178, member A							87.0	80.0	83.0					10																	102676519		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102676519A>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.377A>G	10.37:g.102676519A>G	ENSP00000238961:p.His126Arg					FAM178A_ENST00000370269.3_Missense_Mutation_p.H126R|FAM178A_ENST00000370271.3_Missense_Mutation_p.H126R	p.H126R	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			3	525	+			126					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.377A>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.366227	0.01235	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.39787	1.06;1.69;1.68	5.7	-6.22	0.02058	.	1.100360	0.06850	N	0.797238	T	0.12433	0.0302	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.29397	-1.0013	10	0.02654	T	1	0.777	3.8308	0.08873	0.5338:0.1966:0.1705:0.0991	.	126;126;126	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	R	126	ENSP00000359294:H126R;ENSP00000238961:H126R;ENSP00000359292:H126R	ENSP00000238961:H126R	H	+	2	0	FAM178A	102666509	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	-0.851000	0.04313	-0.829000	0.04268	-0.242000	0.12053	CAT		0.408	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			27	152	0	0	0	0.717897	0	27	152				
MYL1	4632	broad.mit.edu	37	2	211159122	211159122	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:211159122C>G	ENST00000352451.3	-	4	472	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	MYL1_ENST00000341685.4_Missense_Mutation_p.E65Q|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	109					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGTTCAAACTCAATTTTCTTG	0.378																																						ENST00000352451.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(325-327)Gag>Cag		myosin, light chain 1, alkali; skeletal, fast							131.0	121.0	124.0					2																	211159122		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211159122C>G		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.325G>C	2.37:g.211159122C>G	ENSP00000307280:p.Glu109Gln					MYL1_ENST00000341685.4_Missense_Mutation_p.E65Q|MYL1_ENST00000496436.1_5'UTR	p.E109Q	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	4	472	-			109					B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.325G>C	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283371	0.59867	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.80033	-1.33;-1.33	5.77	5.77	0.91146	EF-hand-like domain (1);	0.292891	0.42420	D	0.000712	D	0.82476	0.5045	M	0.84082	2.675	0.40627	D	0.981823	P;B	0.36789	0.57;0.409	B;B	0.37451	0.25;0.211	D	0.85147	0.0984	10	0.87932	D	0	.	13.7042	0.62627	0.0:0.9209:0.0:0.0791	.	109;65	P05976;P05976-2	MYL1_HUMAN;.	Q	65;109	ENSP00000343321:E65Q;ENSP00000307280:E109Q	ENSP00000343321:E65Q	E	-	1	0	MYL1	210867367	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.972000	0.40540	2.752000	0.94435	0.650000	0.86243	GAG		0.378	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		57	107	0	0	0	0.870114	0	57	107				
ETV1	2115	broad.mit.edu	37	7	13971309	13971309	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:13971309C>A	ENST00000430479.1	-	9	1287	c.620G>T	c.(619-621)gGa>gTa	p.G207V	ETV1_ENST00000242066.5_Missense_Mutation_p.G189V|ETV1_ENST00000420159.2_Missense_Mutation_p.G149V|ETV1_ENST00000405218.2_Missense_Mutation_p.G207V|ETV1_ENST00000403527.1_Missense_Mutation_p.G167V|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.G104V|ETV1_ENST00000405192.2_Missense_Mutation_p.G207V|ETV1_ENST00000343495.5_Missense_Mutation_p.G189V|ETV1_ENST00000403685.1_Missense_Mutation_p.G189V|ETV1_ENST00000405358.4_Missense_Mutation_p.G221V	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	207					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATAGGACGTCCTTCCCTTGG	0.512			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(565-567)gGa>gTa		ets variant 1							131.0	128.0	129.0					7																	13971309		2038	4188	6226	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971309C>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.620G>T	7.37:g.13971309C>A	ENSP00000405327:p.Gly207Val					ETV1_ENST00000405358.4_Missense_Mutation_p.G221V|ETV1_ENST00000405192.2_Missense_Mutation_p.G207V|ETV1_ENST00000420159.2_Missense_Mutation_p.G149V|ETV1_ENST00000403527.1_Missense_Mutation_p.G167V|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.G189V|ETV1_ENST00000399357.3_Missense_Mutation_p.G104V|ETV1_ENST00000242066.5_Missense_Mutation_p.G189V|ETV1_ENST00000430479.1_Missense_Mutation_p.G207V|ETV1_ENST00000405218.2_Missense_Mutation_p.G207V	p.G189V			P50549	ETV1_HUMAN			8	1304	-			207					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.566G>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120151	0.94385	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.055064	0.85682	D	0.000000	T	0.51466	0.1676	M	0.61703	1.905	0.80722	D	1	P;P;D;D;D;D;P;P	0.89917	0.934;0.948;0.966;0.996;0.992;1.0;0.833;0.635	P;P;P;P;D;D;P;P	0.91635	0.711;0.578;0.711;0.856;0.978;0.999;0.606;0.493	T	0.16660	-1.0395	10	0.34782	T	0.22	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	218;189;221;149;104;167;149;207	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	V	207;189;189;149;104;207;221;167;207;189;149;104	ENSP00000405327:G207V;ENSP00000242066:G189V;ENSP00000340853:G189V;ENSP00000411626:G149V;ENSP00000382293:G104V;ENSP00000385381:G207V;ENSP00000384085:G221V;ENSP00000384138:G167V;ENSP00000385551:G207V;ENSP00000385686:G189V;ENSP00000393078:G149V;ENSP00000394710:G104V	ENSP00000242066:G189V	G	-	2	0	ETV1	13937834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	GGA		0.512	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		23	42	1	0	1.1804e-14	0.667858	1.25989e-14	23	42				
TRPC4AP	26133	broad.mit.edu	37	20	33603887	33603887	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33603887T>A	ENST00000252015.2	-	10	1363	c.1274A>T	c.(1273-1275)gAc>gTc	p.D425V	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.D417V|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D386V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D27V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	425					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AATCAGTTTGTCAAACAAATT	0.458																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1273-1275)gAc>gTc		transient receptor potential cation channel, subfamily C, member 4 associated protein							119.0	107.0	111.0					20																	33603887		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33603887T>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1274A>T	20.37:g.33603887T>A	ENSP00000252015:p.Asp425Val					TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D386V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.D417V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D27V	p.D425V			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1363	-			425					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1274A>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.790644	0.90367	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.65498	2.005	0.80722	D	1	D;D;D	0.62365	0.977;0.991;0.991	P;P;P	0.59825	0.812;0.864;0.864	T	0.78051	-0.2355	9	0.87932	D	0	.	14.6634	0.68891	0.0:0.0:0.0:1.0	.	386;417;425	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	V	425;417;27;386;410	.	ENSP00000252015:D425V	D	-	2	0	TRPC4AP	33067548	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.036000	0.88901	1.864000	0.54056	0.533000	0.62120	GAC		0.458	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		5	120	0	0	0	0.217242	0	5	120				
ZNF544	27300	broad.mit.edu	37	19	58772838	58772838	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:58772838A>G	ENST00000596652.1	+	6	1100	c.866A>G	c.(865-867)aAg>aGg	p.K289R	ZNF544_ENST00000269829.4_Missense_Mutation_p.K289R|ZNF544_ENST00000415203.2_Missense_Mutation_p.K261R|ZNF544_ENST00000600044.1_Missense_Mutation_p.K261R|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.K261R|ZNF544_ENST00000599953.1_Missense_Mutation_p.K147R|CTD-3138B18.4_ENST00000600029.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AATGAACAGAAGCCAGTGCAT	0.428																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(865-867)aAg>aGg		zinc finger protein 544							73.0	72.0	73.0					19																	58772838		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772838A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.866A>G	19.37:g.58772838A>G	ENSP00000469635:p.Lys289Arg					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.K289R|ZNF544_ENST00000599953.1_Missense_Mutation_p.K147R|ZNF544_ENST00000600044.1_Missense_Mutation_p.K261R|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.K261R|ZNF544_ENST00000600220.1_Missense_Mutation_p.K261R	p.K289R	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1340	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	289					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.866A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991417	0.35131	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.15017	2.46;2.46	3.52	-0.305	0.12784	.	.	.	.	.	T	0.06872	0.0175	N	0.11064	0.09	0.09310	N	1	P;B;B	0.39480	0.675;0.006;0.019	B;B;B	0.34652	0.187;0.003;0.007	T	0.29181	-1.0020	9	0.33940	T	0.23	.	4.5492	0.12103	0.5125:0.1649:0.0:0.3226	.	261;261;289	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	R	289;261	ENSP00000269829:K289R;ENSP00000394341:K261R	ENSP00000269829:K289R	K	+	2	0	ZNF544	63464650	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.844000	0.27654	0.067000	0.16545	0.533000	0.62120	AAG		0.428	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		71	91	0	0	0	0.870114	0	71	91				
KIF24	347240	broad.mit.edu	37	9	34257489	34257489	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:34257489C>T	ENST00000402558.2	-	10	2140	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	KIF24_ENST00000379174.3_Missense_Mutation_p.V572M|KIF24_ENST00000345050.2_Missense_Mutation_p.V572M|KIF24_ENST00000379166.2_Missense_Mutation_p.V706M			Q5T7B8	KIF24_HUMAN	kinesin family member 24	706					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ACTGTCTGCACTTTCTTGCAC	0.552																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2116-2118)Gtg>Atg		kinesin family member 24							184.0	181.0	182.0					9																	34257489		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257489C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2116G>A	9.37:g.34257489C>T	ENSP00000384433:p.Val706Met					KIF24_ENST00000345050.2_Missense_Mutation_p.V572M|KIF24_ENST00000379174.3_Missense_Mutation_p.V572M|KIF24_ENST00000402558.2_Missense_Mutation_p.V706M	p.V706M	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2235	-			706					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.2116G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638658	0.67130	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.77750	-0.9;-1.12;-0.9;-1.12	5.69	5.69	0.88448	.	0.187622	0.26220	N	0.025622	T	0.81375	0.4809	M	0.78801	2.425	0.38500	D	0.948217	P	0.50272	0.933	P	0.47206	0.541	D	0.85319	0.1083	10	0.72032	D	0.01	.	13.0568	0.58984	0.0:0.9268:0.0:0.0732	.	706	Q5T7B8	KIF24_HUMAN	M	706;572;706;572;706	ENSP00000384433:V706M;ENSP00000368472:V572M;ENSP00000368464:V706M;ENSP00000340179:V572M	ENSP00000340179:V572M	V	-	1	0	KIF24	34247489	0.580000	0.26733	0.989000	0.46669	0.756000	0.42949	1.465000	0.35299	2.676000	0.91093	0.655000	0.94253	GTG		0.552	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			85	95	0	0	0	0.870114	0	85	95				
GYS1	2997	broad.mit.edu	37	19	49490607	49490607	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49490607A>T	ENST00000323798.3	-	3	532	c.336T>A	c.(334-336)ccT>ccA	p.P112P	GYS1_ENST00000541188.1_Silent_p.P32P|GYS1_ENST00000540532.1_Silent_p.P32P|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	112					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GCACCACCAGAGGGCCTCCCT	0.627																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(334-336)ccT>ccA		glycogen synthase 1 (muscle)							39.0	32.0	34.0					19																	49490607		2202	4298	6500	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49490607A>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.336T>A	19.37:g.49490607A>T						GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Silent_p.P32P|GYS1_ENST00000541188.1_Silent_p.P32P|GYS1_ENST00000544287.1_Intron	p.P112P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	3	532	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	112					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.336T>A	CCDS12747.1																																																																																				0.627	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		7	18	0	0	0	0.307466	0	7	18				
OR4Q3	441669	broad.mit.edu	37	14	20215693	20215693	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:20215693T>C	ENST00000331723.1	+	1	107	c.107T>C	c.(106-108)aTt>aCt	p.I36T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTTTACATTGCTATTGTC	0.383																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(106-108)aTt>aCt		olfactory receptor, family 4, subfamily Q, member 3							177.0	181.0	180.0					14																	20215693		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215693T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.107T>C	14.37:g.20215693T>C	ENSP00000330049:p.Ile36Thr						p.I36T	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	107	+	all_cancers(95;0.00108)		36					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.107T>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	4.742	0.138033	0.09083	.	.	ENSG00000182652	ENST00000331723	T	0.03181	4.02	4.32	3.12	0.35913	.	1.116690	0.07031	U	0.828475	T	0.02848	0.0085	N	0.13371	0.34	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.40365	-0.9567	10	0.19590	T	0.45	.	8.2167	0.31516	0.0:0.1016:0.0:0.8984	.	36	Q8NH05	OR4Q3_HUMAN	T	36	ENSP00000330049:I36T	ENSP00000330049:I36T	I	+	2	0	OR4Q3	19285533	0.000000	0.05858	0.004000	0.12327	0.877000	0.50540	0.116000	0.15561	1.814000	0.52955	0.416000	0.27883	ATT		0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			221	96	0	0	0	0.870114	0	221	96				
AGBL1	123624	broad.mit.edu	37	15	86806023	86806023	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:86806023A>G	ENST00000441037.2	+	9	941	c.846A>G	c.(844-846)gaA>gaG	p.E282E	AGBL1_ENST00000389298.3_Silent_p.E13E|AGBL1_ENST00000421325.2_Silent_p.E282E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	282	Asp-rich.				C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGACTTGGAAACAGACGTGA	0.428																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(844-846)gaA>gaG		ATP/GTP binding protein-like 1							136.0	137.0	136.0					15																	86806023		1951	4147	6098	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86806023A>G	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.846A>G	15.37:g.86806023A>G						AGBL1_ENST00000389298.3_Silent_p.E13E|AGBL1_ENST00000421325.2_Silent_p.E282E	p.E282E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			9	941	+			282			Asp-rich.		A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.846A>G	CCDS58398.1																																																																																				0.428	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		10	28	0	0	0	0.387290	0	10	28				
MUC6	4588	broad.mit.edu	37	11	1028224	1028224	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:1028224A>G	ENST00000421673.2	-	14	1804		c.e14+1			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGGACACTCACTGTTGAGCT	0.697																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e14+1		mucin 6, oligomeric mucus/gel-forming							15.0	18.0	17.0					11																	1028224		1863	4079	5942	SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028224A>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1753+1T>C	11.37:g.1028224A>G								NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1804	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	SNP	ENST00000421673.2	37		CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130842	0.77549	.	.	ENSG00000184956	ENST00000421673	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1438	0.65336	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC6	1018224	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	5.911000	0.69939	1.833000	0.53350	0.402000	0.26972	.		0.697	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	3	2	0	0	0	0.115264	0	3	2				
OR4S2	219431	broad.mit.edu	37	11	55418395	55418395	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:55418395A>G	ENST00000312422.2	+	1	16	c.16A>G	c.(16-18)Aac>Gac	p.N6D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAAAATAAACAACGTAACTGA	0.323																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(16-18)Aac>Gac		olfactory receptor, family 4, subfamily S, member 2							52.0	47.0	49.0					11																	55418395		2176	4002	6178	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418395A>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.16A>G	11.37:g.55418395A>G	ENSP00000310337:p.Asn6Asp						p.N6D	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	16	+		all_epithelial(135;0.0748)	6					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.16A>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573379	0.45902	.	.	ENSG00000174982	ENST00000312422	T	0.19669	2.13	5.15	3.94	0.45596	.	0.000000	0.56097	D	0.000038	T	0.21881	0.0527	L	0.38692	1.165	0.21652	N	0.999603	P	0.52842	0.956	P	0.51229	0.663	T	0.06427	-1.0827	10	0.72032	D	0.01	.	6.3349	0.21291	0.6809:0.1625:0.0:0.1566	.	6	Q8NH73	OR4S2_HUMAN	D	6	ENSP00000310337:N6D	ENSP00000310337:N6D	N	+	1	0	OR4S2	55174971	0.000000	0.05858	0.929000	0.37066	0.434000	0.31775	0.525000	0.22956	1.936000	0.56123	0.368000	0.22195	AAC		0.323	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		70	27	0	0	0	0.870114	0	70	27				
SLC38A11	151258	broad.mit.edu	37	2	165768159	165768159	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:165768159A>G	ENST00000409149.3	-	9	1073	c.782T>C	c.(781-783)tTt>tCt	p.F261S	SLC38A11_ENST00000409662.1_Missense_Mutation_p.F261S|SLC38A11_ENST00000409058.1_Missense_Mutation_p.F292S|SLC38A11_ENST00000303735.4_Missense_Mutation_p.F239S|SLC38A11_ENST00000493887.1_5'Flank	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	261					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TCTTGTCACAAAGCATTCCAT	0.393																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(715-717)tTt>tCt		solute carrier family 38, member 11							98.0	94.0	96.0					2																	165768159		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165768159A>G		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.782T>C	2.37:g.165768159A>G	ENSP00000386272:p.Phe261Ser					SLC38A11_ENST00000409058.1_Missense_Mutation_p.F292S|SLC38A11_ENST00000409149.3_Missense_Mutation_p.F261S|SLC38A11_ENST00000409662.1_Missense_Mutation_p.F261S	p.F239S	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			8	1046	-			261					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.716T>C	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462060	0.84425	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.02196	-1.1197	10	0.87932	D	0	-21.8324	16.2035	0.82105	1.0:0.0:0.0:0.0	.	261;239	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	S	239;261;292;261;82	ENSP00000306178:F239S;ENSP00000386272:F261S;ENSP00000387345:F292S;ENSP00000386774:F261S;ENSP00000401448:F82S	ENSP00000306178:F239S	F	-	2	0	SLC38A11	165476405	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	8.867000	0.92314	2.304000	0.77564	0.528000	0.53228	TTT		0.393	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		6	81	0	0	0	0.248553	0	6	81				
TMCC3	57458	broad.mit.edu	37	12	94975436	94975436	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:94975436A>G	ENST00000261226.4	-	2	1088	c.957T>C	c.(955-957)taT>taC	p.Y319Y	TMCC3_ENST00000551457.1_Silent_p.Y288Y	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	319						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						AAATAAAACCATATTCTCTCT	0.393																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(955-957)taT>taC		transmembrane and coiled-coil domain family 3							59.0	60.0	59.0					12																	94975436		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94975436A>G	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.957T>C	12.37:g.94975436A>G						TMCC3_ENST00000551457.1_Silent_p.Y288Y	p.Y319Y	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	1088	-			319					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.957T>C	CCDS31877.1																																																																																				0.393	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		18	115	0	0	0	0.624587	0	18	115				
KCTD9	54793	broad.mit.edu	37	8	25290134	25290134	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:25290134C>A	ENST00000221200.4	-	11	1159	c.939G>T	c.(937-939)gtG>gtT	p.V313V		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	313	Pentapeptide repeat 2.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTTCCATATCCACACCTTTCA	0.393																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(937-939)gtG>gtT		potassium channel tetramerization domain containing 9							99.0	109.0	105.0					8																	25290134		2203	4298	6501	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25290134C>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.939G>T	8.37:g.25290134C>A							p.V313V	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	11	1159	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	313			Pentapeptide repeat 2.		Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.939G>T	CCDS6048.1																																																																																				0.393	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		9	360	1	0	7.03913e-09	0.411799	7.37265e-09	9	360				
PCDHA2	56146	broad.mit.edu	37	5	140176930	140176930	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140176930T>C	ENST00000526136.1	+	1	2381	c.2381T>C	c.(2380-2382)gTa>gCa	p.V794A	PCDHA2_ENST00000378132.1_Missense_Mutation_p.V794A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V794A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	794	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAATACGTAGGAAAGGTG	0.403																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2380-2382)gTa>gCa									38.0	43.0	41.0					5																	140176930		2203	4300	6503	SO:0001583	missense	56146							g.chr5:140176930T>C	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2381T>C	5.37:g.140176930T>C	ENSP00000431748:p.Val794Ala					PCDHA2_ENST00000378132.1_Missense_Mutation_p.V794A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V794A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.V794A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2381	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2381T>C	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	0.530	-0.858303	0.02610	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.49139	0.86;0.79;2.84	4.61	2.17	0.27698	.	1.950890	0.03825	U	0.268099	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.0	B;B;B	0.19666	0.026;0.005;0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	2.736	0.05240	0.0:0.2796:0.2404:0.48	.	794;794;794	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	794	ENSP00000430584:V794A;ENSP00000367372:V794A;ENSP00000431748:V794A	ENSP00000367372:V794A	V	+	2	0	PCDHA2	140157114	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	0.501000	0.22578	0.596000	0.29794	0.482000	0.46254	GTA		0.403	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		33	78	0	0	0	0.750413	0	33	78				
GUCY2F	2986	broad.mit.edu	37	X	108631735	108631735	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:108631735C>A	ENST00000218006.2	-	15	3230	c.2939G>T	c.(2938-2940)cGa>cTa	p.R980L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	980	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGGCCAATTCGAATTCGGAC	0.453																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2938-2940)cGa>cTa		guanylate cyclase 2F, retinal							133.0	124.0	127.0					X																	108631735		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108631735C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2939G>T	X.37:g.108631735C>A	ENSP00000218006:p.Arg980Leu						p.R980L	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			15	3230	-			980			Guanylate cyclase.		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2939G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	c	19.38	3.816423	0.70912	.	.	ENSG00000101890	ENST00000218006	D	0.88046	-2.33	4.06	3.2	0.36748	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.067391	0.64402	D	0.000011	D	0.95736	0.8613	H	0.99104	4.43	0.49582	D	0.999807	D	0.89917	1.0	D	0.85130	0.997	D	0.94905	0.8060	10	0.87932	D	0	.	8.9381	0.35713	0.0:0.8858:0.0:0.1142	.	980	P51841	GUC2F_HUMAN	L	980	ENSP00000218006:R980L	ENSP00000218006:R980L	R	-	2	0	GUCY2F	108518391	0.993000	0.37304	0.995000	0.50966	0.896000	0.52359	1.201000	0.32259	1.070000	0.40811	0.591000	0.81541	CGA		0.453	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		117	113	1	0	2.98776e-44	0.870114	3.34629e-44	117	113				
DENND4A	10260	broad.mit.edu	37	15	65962172	65962172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:65962172C>T	ENST00000431932.2	-	26	4808	c.4600G>A	c.(4600-4602)Gcc>Acc	p.A1534T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A1577T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1534					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGACCAGAGGCTGATGTTGAA	0.358																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4729-4731)Gcc>Acc		DENN/MADD domain containing 4A							122.0	115.0	117.0					15																	65962172		1888	4117	6005	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65962172C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4600G>A	15.37:g.65962172C>T	ENSP00000396830:p.Ala1534Thr					DENND4A_ENST00000431932.2_Missense_Mutation_p.A1534T	p.A1577T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			27	4944	-			1534					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4729G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745808	0.15710	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05139	3.51;3.49	5.64	3.76	0.43208	.	0.885655	0.09835	N	0.749714	T	0.04318	0.0119	N	0.19112	0.55	0.33661	D	0.609738	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.24012	-1.0172	10	0.10377	T	0.69	.	7.8926	0.29686	0.0:0.7293:0.0:0.2707	.	1577;1534	E7EPL3;Q7Z401	.;MYCPP_HUMAN	T	1577;1534	ENSP00000391167:A1577T;ENSP00000396830:A1534T	ENSP00000396830:A1534T	A	-	1	0	DENND4A	63749226	0.997000	0.39634	1.000000	0.80357	0.168000	0.22595	1.342000	0.33919	1.392000	0.46585	0.650000	0.86243	GCC		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		6	52	0	0	0	0.217242	0	6	52				
UBR5	51366	broad.mit.edu	37	8	103372381	103372381	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:103372381A>G	ENST00000520539.1	-	5	910	c.304T>C	c.(304-306)Tca>Cca	p.S102P	UBR5_ENST00000521922.1_Missense_Mutation_p.S102P|UBR5_ENST00000220959.4_Missense_Mutation_p.S102P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	102					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCAGGCCTTGACGTCCTCCCT	0.493																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(304-306)Tca>Cca		ubiquitin protein ligase E3 component n-recognin 5							114.0	103.0	107.0					8																	103372381		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103372381A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.304T>C	8.37:g.103372381A>G	ENSP00000429084:p.Ser102Pro					UBR5_ENST00000521922.1_Missense_Mutation_p.S102P|UBR5_ENST00000220959.4_Missense_Mutation_p.S102P	p.S102P	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		5	910	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		102					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.304T>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606202	0.66445	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49432	0.78;0.78;0.78	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.48370	0.1496	L	0.29908	0.895	0.80722	D	1	P;P	0.45531	0.86;0.86	P;P	0.52217	0.693;0.693	T	0.36529	-0.9744	10	0.27082	T	0.32	.	15.3605	0.74469	1.0:0.0:0.0:0.0	.	102;102	E7EMW7;O95071	.;UBR5_HUMAN	P	102	ENSP00000429084:S102P;ENSP00000220959:S102P;ENSP00000427819:S102P	ENSP00000220959:S102P	S	-	1	0	UBR5	103441557	1.000000	0.71417	0.084000	0.20598	0.963000	0.63663	8.942000	0.92970	2.038000	0.60285	0.445000	0.29226	TCA		0.493	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		3	106	0	0	0	0.115264	0	3	106				
ZBTB4	57659	broad.mit.edu	37	17	7365705	7365705	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7365705T>C	ENST00000311403.4	-	4	2935	c.2596A>G	c.(2596-2598)Agc>Ggc	p.S866G	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S866G	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	866					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TATACATAGCTGCCCCCGCTT	0.622																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(2596-2598)Agc>Ggc		zinc finger and BTB domain containing 4							26.0	28.0	28.0					17																	7365705		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7365705T>C	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2596A>G	17.37:g.7365705T>C	ENSP00000307858:p.Ser866Gly					ZBTB4_ENST00000380599.4_Missense_Mutation_p.S866G	p.S866G	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2935	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	866					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.2596A>G	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	T	0.728	-0.781113	0.02929	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.03717	3.83;3.83	4.18	-0.748	0.11087	.	1.008830	0.07949	N	0.980517	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.30854	T	0.27	-1.8974	8.1723	0.31262	0.0:0.3914:0.0:0.6086	.	866	Q9P1Z0	ZBTB4_HUMAN	G	866	ENSP00000307858:S866G;ENSP00000369973:S866G	ENSP00000307858:S866G	S	-	1	0	ZBTB4	7306429	0.009000	0.17119	0.028000	0.17463	0.054000	0.15201	-0.045000	0.12003	-0.161000	0.10983	0.533000	0.62120	AGC		0.622	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		13	29	0	0	0	0.479597	0	13	29				
NELL1	4745	broad.mit.edu	37	11	20691274	20691274	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:20691274C>A	ENST00000357134.5	+	1	157	c.5C>A	c.(4-6)cCg>cAg	p.P2Q	NELL1_ENST00000532434.1_Missense_Mutation_p.P2Q|RP11-701I24.3_ENST00000528795.1_RNA|NELL1_ENST00000298925.5_Missense_Mutation_p.P2Q|NELL1_ENST00000325319.5_Missense_Mutation_p.P2Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	2					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGCGATGCCGATGGATTTG	0.597																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(4-6)cCg>cAg		NEL-like 1 (chicken)							151.0	131.0	138.0					11																	20691274		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20691274C>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.5C>A	11.37:g.20691274C>A	ENSP00000349654:p.Pro2Gln					NELL1_ENST00000325319.5_Missense_Mutation_p.P2Q|NELL1_ENST00000532434.1_Missense_Mutation_p.P2Q|NELL1_ENST00000357134.5_Missense_Mutation_p.P2Q	p.P2Q			Q92832	NELL1_HUMAN			1	158	+			2					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.5C>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689210	0.48097	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;T;T;T	0.89050	-2.46;-1.23;-1.28;-1.14	3.68	-0.412	0.12367	.	0.087891	0.44688	D	0.000432	D	0.88808	0.6537	L	0.46157	1.445	0.20926	N	0.999824	D;D;B;D	0.71674	0.998;0.996;0.136;0.996	P;P;B;P	0.62184	0.899;0.854;0.028;0.795	T	0.80968	-0.1145	10	0.87932	D	0	-0.352	6.9013	0.24285	0.0:0.5907:0.0:0.4093	.	2;2;2;2	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	2	ENSP00000298925:P2Q;ENSP00000349654:P2Q;ENSP00000317837:P2Q;ENSP00000437170:P2Q	ENSP00000298925:P2Q	P	+	2	0	NELL1	20647850	0.278000	0.24230	0.022000	0.16811	0.704000	0.40688	-0.094000	0.11094	-0.193000	0.10415	0.563000	0.77884	CCG		0.597	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		16	36	1	0	3.32936e-07	0.539581	3.46122e-07	16	36				
EXT1	2131	broad.mit.edu	37	8	119122871	119122871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:119122871C>A	ENST00000378204.2	-	1	1221	c.415G>T	c.(415-417)Gag>Tag	p.E139*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	139					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGAGCCCTCGATGGCCGCT	0.498			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(415-417)Gag>Tag		exostosin glycosyltransferase 1							90.0	103.0	99.0					8																	119122871		2203	4300	6503	SO:0001587	stop_gained	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122871C>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.415G>T	8.37:g.119122871C>A	ENSP00000367446:p.Glu139*						p.E139*	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1221	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		139					B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	ENST00000378204.2	37	c.415G>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	45	12.068437	0.99632	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-15.2576	19.3217	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000367446:E139X	E	-	1	0	EXT1	119192052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.896000	0.69822	2.558000	0.86282	0.462000	0.41574	GAG		0.498	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		67	108	1	0	4.13886e-29	0.870114	4.57453e-29	67	108				
ATP10A	57194	broad.mit.edu	37	15	25966975	25966975	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:25966975A>G	ENST00000356865.6	-	7	1303	c.1192T>C	c.(1192-1194)Ttg>Ctg	p.L398L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	398					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCGTCATACAACTGCATGTCC	0.428																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1192-1194)Ttg>Ctg		ATPase, class V, type 10A							136.0	124.0	128.0					15																	25966975		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25966975A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1192T>C	15.37:g.25966975A>G							p.L398L	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	7	1303	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	398					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1192T>C	CCDS32178.1																																																																																				0.428	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		59	134	0	0	0	0.870114	0	59	134				
KRR1	11103	broad.mit.edu	37	12	75900592	75900592	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:75900592T>G	ENST00000229214.4	-	3	386	c.363A>C	c.(361-363)aaA>aaC	p.K121N	KRR1_ENST00000438169.2_Missense_Mutation_p.K121N	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	121					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGCTAACAGTTTTATCAGAT	0.383																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(361-363)aaA>aaC		KRR1, small subunit (SSU) processome component, homolog (yeast)							127.0	121.0	123.0					12																	75900592		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75900592T>G	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.363A>C	12.37:g.75900592T>G	ENSP00000229214:p.Lys121Asn					KRR1_ENST00000438169.2_Missense_Mutation_p.K121N	p.K121N	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			3	386	-			121					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.363A>C	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548610	0.65311	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.43294	0.95;0.95	5.49	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.93420	3.415	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.969	D;D;D	0.91635	0.999;0.997;0.912	T	0.72609	-0.4241	10	0.87932	D	0	-0.1244	8.1989	0.31413	0.0:0.2974:0.0:0.7026	.	121;121;121	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	N	121	ENSP00000229214:K121N;ENSP00000411740:K121N	ENSP00000229214:K121N	K	-	3	2	KRR1	74186859	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.303000	0.19210	1.037000	0.40024	0.533000	0.62120	AAA		0.383	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		75	118	0	0	0	0.870114	0	75	118				
UCN3	114131	broad.mit.edu	37	10	5415994	5415994	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:5415994G>T	ENST00000380433.3	+	2	539	c.311G>T	c.(310-312)aGg>aTg	p.R104M		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						GCACAGCCCAGGGGAAAGCCA	0.602																																						ENST00000380433.3																			0				endometrium(1)|large_intestine(1)	2						c.(310-312)aGg>aTg		urocortin 3							68.0	67.0	68.0					10																	5415994		2203	4300	6503	SO:0001583	missense	114131					extracellular region	hormone activity	g.chr10:5415994G>T	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.311G>T	10.37:g.5415994G>T	ENSP00000369798:p.Arg104Met						p.R104M	NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN			2	539	+			104					Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	c.311G>T	CCDS7065.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908052	0.33721	.	.	ENSG00000178473	ENST00000380433	T	0.36699	1.24	5.59	-4.06	0.03986	.	0.349623	0.29737	N	0.011324	T	0.31765	0.0807	L	0.38175	1.15	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.34675	-0.9819	10	0.44086	T	0.13	-4.4205	9.446	0.38697	0.7311:0.1236:0.1453:0.0	.	104	Q969E3	UCN3_HUMAN	M	104	ENSP00000369798:R104M	ENSP00000369798:R104M	R	+	2	0	UCN3	5405994	0.010000	0.17322	0.000000	0.03702	0.018000	0.09664	0.044000	0.13992	-0.227000	0.09884	0.491000	0.48974	AGG		0.602	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		10	10	1	0	1.58986e-06	0.361761	1.64671e-06	10	10				
REV3L	5980	broad.mit.edu	37	6	111688861	111688861	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:111688861C>A	ENST00000358835.3	-	15	6584	c.6130G>T	c.(6130-6132)Gat>Tat	p.D2044Y	REV3L_ENST00000368802.3_Missense_Mutation_p.D2044Y|REV3L_ENST00000435970.1_Missense_Mutation_p.D1966Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D2044Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2044					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTTTGTCATCTGGGTTAACT	0.413								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5896-5898)Gat>Tat	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							165.0	154.0	157.0					6																	111688861		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111688861C>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6130G>T	6.37:g.111688861C>A	ENSP00000351697:p.Asp2044Tyr					REV3L_ENST00000368802.3_Missense_Mutation_p.D2044Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D2044Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D2044Y	p.D1966Y			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	16	6712	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2044					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5896G>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933055	0.34096	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.64	5.64	0.86602	Ribonuclease H-like (1);	0.290858	0.32134	N	0.006532	T	0.23886	0.0578	L	0.36672	1.1	0.29315	N	0.867749	P	0.39624	0.681	B	0.34536	0.185	T	0.22312	-1.0220	10	0.59425	D	0.04	-3.3375	14.8672	0.70425	0.1436:0.8564:0.0:0.0	.	2044	O60673	DPOLZ_HUMAN	Y	2044;2044;2044;1966;117	ENSP00000357792:D2044Y;ENSP00000357795:D2044Y;ENSP00000351697:D2044Y;ENSP00000402003:D1966Y	ENSP00000351697:D2044Y	D	-	1	0	REV3L	111795554	0.999000	0.42202	1.000000	0.80357	0.484000	0.33280	1.724000	0.38064	2.820000	0.97059	0.650000	0.86243	GAT		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		105	212	1	0	2.12868e-59	0.870114	2.40012e-59	105	212				
KBTBD6	89890	broad.mit.edu	37	13	41705364	41705364	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:41705364C>A	ENST00000379485.1	-	1	1518	c.1284G>T	c.(1282-1284)atG>atT	p.M428I	KBTBD6_ENST00000499385.2_Missense_Mutation_p.M362I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	428										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATGCCACATCCATGCCCTCAC	0.473																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1282-1284)atG>atT		kelch repeat and BTB (POZ) domain containing 6							111.0	108.0	109.0					13																	41705364		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705364C>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1284G>T	13.37:g.41705364C>A	ENSP00000368799:p.Met428Ile					KBTBD6_ENST00000499385.2_Missense_Mutation_p.M362I	p.M428I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1518	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	428					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1284G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	8.654	0.899031	0.17686	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.65732	-0.17;-0.17	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.117416	0.64402	D	0.000018	T	0.52092	0.1713	L	0.38692	1.165	0.33008	D	0.527197	B;P	0.35527	0.274;0.507	B;B	0.37550	0.173;0.253	T	0.63157	-0.6700	10	0.29301	T	0.29	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	362;428	F5GZN7;Q86V97	.;KBTB6_HUMAN	I	428;362	ENSP00000368799:M428I;ENSP00000444326:M362I	ENSP00000368799:M428I	M	-	3	0	KBTBD6	40603364	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.628000	0.24522	2.132000	0.65825	0.462000	0.41574	ATG		0.473	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		56	133	1	0	2.43277e-16	0.870114	2.61321e-16	56	133				
GRK4	2868	broad.mit.edu	37	4	3015545	3015545	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:3015545G>A	ENST00000398052.4	+	8	1074	c.731G>A	c.(730-732)aGt>aAt	p.S244N	GRK4_ENST00000504933.1_Missense_Mutation_p.S244N|GRK4_ENST00000398051.4_Missense_Mutation_p.S212N|GRK4_ENST00000345167.6_Missense_Mutation_p.S212N	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGTGCAAAGTAGATTCGTA	0.398																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(730-732)aGt>aAt		G protein-coupled receptor kinase 4							121.0	104.0	110.0					4																	3015545		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3015545G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.731G>A	4.37:g.3015545G>A	ENSP00000381129:p.Ser244Asn					GRK4_ENST00000345167.6_Missense_Mutation_p.S212N|GRK4_ENST00000398051.4_Missense_Mutation_p.S212N|GRK4_ENST00000504933.1_Missense_Mutation_p.S244N	p.S244N	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	1074	+			244			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.731G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248067	0.59103	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.76	4.76	0.60689	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	U	0.000000	T	0.74951	0.3784	L	0.39245	1.2	0.80722	D	1	D;P;D;D	0.71674	0.996;0.555;0.996;0.998	P;P;P;D	0.67382	0.857;0.516;0.882;0.951	T	0.78453	-0.2198	10	0.87932	D	0	-10.4604	16.8263	0.85933	0.0:0.0:1.0:0.0	.	212;212;244;244	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	N	212;244;212;244	ENSP00000381128:S212N;ENSP00000381129:S244N;ENSP00000264764:S212N;ENSP00000427445:S244N	ENSP00000264764:S212N	S	+	2	0	GRK4	2985343	1.000000	0.71417	0.705000	0.30386	0.009000	0.06853	9.528000	0.98046	2.199000	0.70637	0.650000	0.86243	AGT		0.398	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		5	102	0	0	0	0.184627	0	5	102				
ZFHX4	79776	broad.mit.edu	37	8	77775451	77775451	+	Silent	SNP	T	T	A	rs199874527		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:77775451T>A	ENST00000521891.2	+	11	9949	c.9501T>A	c.(9499-9501)ccT>ccA	p.P3167P	ZFHX4_ENST00000518282.1_Silent_p.P3141P|ZFHX4_ENST00000050961.6_Silent_p.P3118P|ZFHX4_ENST00000455469.2_Silent_p.P3122P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9499-9501)ccT>ccA		zinc finger homeobox 4							52.0	53.0	53.0					8																	77775451		2064	4225	6289	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775451T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9501T>A	8.37:g.77775451T>A		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.P3122P|ZFHX4_ENST00000050961.6_Silent_p.P3118P|ZFHX4_ENST00000518282.1_Silent_p.P3141P	p.P3167P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9949	+			3118					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9501T>A	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	8	0	0	0	0.217242	0	5	8				
PTPRA	5786	broad.mit.edu	37	20	3002826	3002826	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:3002826T>C	ENST00000216877.6	+	14	1661	c.1261T>C	c.(1261-1263)Tgt>Cgt	p.C421R	PTPRA_ENST00000318266.5_Missense_Mutation_p.C421R|PTPRA_ENST00000358719.4_Missense_Mutation_p.C286R|PTPRA_ENST00000380393.3_Missense_Mutation_p.C430R|PTPRA_ENST00000425918.2_Missense_Mutation_p.C441R|PTPRA_ENST00000356147.3_Missense_Mutation_p.C421R|PTPRA_ENST00000399903.2_Missense_Mutation_p.C430R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	430	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTGAAGGCCTGTAACCCTCA	0.587																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1261-1263)Tgt>Cgt		protein tyrosine phosphatase, receptor type, A							158.0	136.0	144.0					20																	3002826		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3002826T>C		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1261T>C	20.37:g.3002826T>C	ENSP00000216877:p.Cys421Arg					PTPRA_ENST00000399903.2_Missense_Mutation_p.C430R|PTPRA_ENST00000318266.5_Missense_Mutation_p.C421R|PTPRA_ENST00000425918.2_Missense_Mutation_p.C441R|PTPRA_ENST00000380393.3_Missense_Mutation_p.C430R|PTPRA_ENST00000358719.4_Missense_Mutation_p.C286R|PTPRA_ENST00000356147.3_Missense_Mutation_p.C421R	p.C421R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			14	1661	+			430			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1261T>C	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812980	0.90707	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.053490	0.85682	U	0.000000	T	0.17874	0.0429	N	0.13043	0.29	0.80722	D	1	P;D;P	0.64830	0.826;0.994;0.582	P;D;B	0.64687	0.525;0.928;0.174	T	0.07770	-1.0755	10	0.59425	D	0.04	.	16.2025	0.82095	0.0:0.0:0.0:1.0	.	441;430;421	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	430;421;430;286;40;441;421;421	ENSP00000369756:C430R;ENSP00000216877:C421R;ENSP00000382787:C430R;ENSP00000351559:C286R;ENSP00000393553:C441R;ENSP00000314568:C421R;ENSP00000348468:C421R	ENSP00000216877:C421R	C	+	1	0	PTPRA	2950826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.187000	0.72039	2.231000	0.72958	0.459000	0.35465	TGT		0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			48	127	0	0	0	0.870114	0	48	127				
GLA	2717	broad.mit.edu	37	X	100656700	100656700	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:100656700G>A	ENST00000218516.3	-	3	488	c.467C>T	c.(466-468)gCc>gTc	p.A156V	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	156			A -> T (in FD; dbSNP:rs28935195). {ECO:0000269|PubMed:7599642}.|A -> V (in FD). {ECO:0000269|PubMed:7575533, ECO:0000269|PubMed:7759078, ECO:0000269|PubMed:9105656}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AAAGGTCTGGGCATCAATGTC	0.438																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14	GRCh37	CM950588	GLA	M		c.(466-468)gCc>gTc		galactosidase, alpha	Agalsidase beta(DB00103)						158.0	140.0	146.0					X																	100656700		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100656700G>A	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.467C>T	X.37:g.100656700G>A	ENSP00000218516:p.Ala156Val					RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	p.A156V	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			3	488	-			156		A -> T (in FD; dbSNP:rs28935195).|A -> V (in FD).			Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.467C>T	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878615	0.97055	.	.	ENSG00000102393	ENST00000218516	D	0.99879	-7.44	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.62435	0.902;0.705	D	0.96768	0.9566	9	0.72032	D	0.01	-14.6253	19.5104	0.95139	0.0:0.0:1.0:0.0	.	156;156	B4DLT5;P06280	.;AGAL_HUMAN	V	156	ENSP00000218516:A156V	ENSP00000218516:A156V	A	-	2	0	GLA	100543356	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.716000	0.98752	2.562000	0.86427	0.600000	0.82982	GCC		0.438	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			5	210	0	0	0	0.184627	0	5	210				
PIP4K2B	8396	broad.mit.edu	37	17	36927421	36927421	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:36927421G>A	ENST00000269554.3	-	8	1392	c.912C>T	c.(910-912)gaC>gaT	p.D304D		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CACActcctcgtcctctgccc	0.607																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(910-912)gaC>gaT		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							182.0	134.0	151.0					17																	36927421		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36927421G>A	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.912C>T	17.37:g.36927421G>A							p.D304D	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			8	1392	-			304			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.912C>T	CCDS11329.1																																																																																				0.607	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		13	40	0	0	0	0.479597	0	13	40				
TNXB	7148	broad.mit.edu	37	6	32017812	32017812	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:32017812G>A	ENST00000375244.3	-	27	9603	c.9402C>T	c.(9400-9402)ggC>ggT	p.G3134G	TNXB_ENST00000375247.2_Silent_p.G3132G			P22105	TENX_HUMAN	tenascin XB	3179	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTACGCGCTGGCCACCGTGGA	0.637																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9400-9402)ggC>ggT		tenascin XB							73.0	81.0	79.0					6																	32017812		1274	2543	3817	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017812G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9402C>T	6.37:g.32017812G>A						TNXB_ENST00000375247.2_Silent_p.G3132G	p.G3134G			P22105	TENX_HUMAN			27	9603	-			3179			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9402C>T																																																																																					0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		13	33	0	0	0	0.557998	0	13	33				
CCDC88B	283234	broad.mit.edu	37	11	64108789	64108789	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64108789G>A	ENST00000356786.5	+	5	480	c.436G>A	c.(436-438)Gcg>Acg	p.A146T	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	146						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTGTTGGGAGCGTCAGTACA	0.602																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(436-438)Gcg>Acg		coiled-coil domain containing 88B							79.0	74.0	76.0					11																	64108789		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64108789G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.436G>A	11.37:g.64108789G>A	ENSP00000349238:p.Ala146Thr					CCDC88B_ENST00000463837.1_3'UTR	p.A146T	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			5	480	+			146					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.436G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	15.56	2.868431	0.51588	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.17213	2.29	3.95	3.95	0.45737	.	.	.	.	.	T	0.38665	0.1049	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.22977	-1.0201	9	0.87932	D	0	.	11.768	0.51941	0.0:0.0:1.0:0.0	.	146;146	B2RTU8;A6NC98	.;CC88B_HUMAN	T	146	ENSP00000349238:A146T	ENSP00000349238:A146T	A	+	1	0	CCDC88B	63865365	0.971000	0.33674	0.974000	0.42286	0.141000	0.21300	1.483000	0.35497	2.232000	0.73038	0.485000	0.47835	GCG		0.602	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		28	70	0	0	0	0.750413	0	28	70				
TAF9B	51616	broad.mit.edu	37	X	77387115	77387115	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:77387115T>C	ENST00000341864.5	-	7	842	c.748A>G	c.(748-750)Att>Gtt	p.I250V		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	250					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CCTTACATAATATCATTGTCA	0.343													T|||	2	0.000529801	0.0	0.0029	3775	,	,		14173	0.0		0.0	False		,,,				2504	0.0					ENST00000341864.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						c.(748-750)Att>Gtt		TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa							212.0	180.0	191.0					X																	77387115		2203	4296	6499	SO:0001583	missense	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77387115T>C	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.748A>G	X.37:g.77387115T>C	ENSP00000339917:p.Ile250Val						p.I250V	NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN			7	842	-			250					B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	37	c.748A>G	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.262215	0.00262	.	.	ENSG00000187325	ENST00000341864	T	0.28454	1.61	4.52	3.31	0.37934	.	0.416426	0.26200	N	0.025742	T	0.10637	0.0260	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.02654	T	1	-0.4264	3.8167	0.08818	0.0:0.1142:0.2198:0.6661	.	250	Q9HBM6	TAF9B_HUMAN	V	250	ENSP00000339917:I250V	ENSP00000339917:I250V	I	-	1	0	TAF9B	77273771	1.000000	0.71417	0.213000	0.23690	0.029000	0.11900	2.990000	0.49401	0.553000	0.29044	0.441000	0.28932	ATT		0.343	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		4	199	0	0	0	0.184627	0	4	199				
AJUBA	84962	broad.mit.edu	37	14	23445902	23445902	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:23445902C>A	ENST00000262713.2	-	3	1503	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N	AJUBA_ENST00000397388.3_De_novo_Start_OutOfFrame|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.K376N	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	376	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TGTAGAAAGCCTTGCAACGCA	0.527																																						ENST00000397388.3																			0													ajuba LIM protein							141.0	129.0	133.0					14																	23445902		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445902C>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1128G>T	14.37:g.23445902C>A	ENSP00000262713:p.Lys376Asn					AJUBA_ENST00000262713.2_Missense_Mutation_p.K376N|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.K376N		NM_198086.1	NP_932352.1	Q96IF1	JUB_HUMAN			0	530	-								A8MX18|D3DS37	Translation_Start_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603055	0.66445	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.88277	-2.36;-2.36	5.74	2.41	0.29592	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.68728	2.09	0.52501	D	0.999954	D	0.57571	0.98	D	0.64776	0.929	D	0.89152	0.3524	10	0.72032	D	0.01	.	5.772	0.18259	0.0:0.52:0.0:0.48	.	376	Q96IF1	JUB_HUMAN	N	376	ENSP00000262713:K376N;ENSP00000354491:K376N	ENSP00000262713:K376N	K	-	3	2	JUB	22515742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.260000	0.32968	0.709000	0.31976	-0.345000	0.07892	AAG		0.527	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			153	63	1	0	2.92728e-61	0.870114	3.305e-61	153	63				
UHRF1BP1L	23074	broad.mit.edu	37	12	100502181	100502181	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:100502181T>C	ENST00000279907.7	-	2	402	c.190A>G	c.(190-192)Aat>Gat	p.N64D	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.N64D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	64										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GACGCTTTATTACAAAAAACT	0.363																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(190-192)Aat>Gat		UHRF1 binding protein 1-like							106.0	99.0	102.0					12																	100502181		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100502181T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.190A>G	12.37:g.100502181T>C	ENSP00000279907:p.Asn64Asp					UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.N64D	p.N64D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			2	402	-			64					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.190A>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665230	0.88251	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.82081	-1.57;-1.57	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	L	0.53780	1.695	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.987;1.0	D	0.89738	0.3931	10	0.66056	D	0.02	-22.6711	14.7243	0.69332	0.0:0.0:0.0:1.0	.	64;64	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	D	64	ENSP00000279907:N64D;ENSP00000349285:N64D	ENSP00000279907:N64D	N	-	1	0	UHRF1BP1L	99026312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.946000	0.87746	1.893000	0.54813	0.482000	0.46254	AAT		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		70	119	0	0	0	0.870114	0	70	119				
VASP	7408	broad.mit.edu	37	19	46021017	46021017	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:46021017C>T	ENST00000245932.6	+	2	458	c.102C>T	c.(100-102)agC>agT	p.S34S	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	34	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AGGCCTTCAGCCGCGTCCAGA	0.642																																						ENST00000245932.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18						c.(100-102)agC>agT		vasodilator-stimulated phosphoprotein							70.0	54.0	59.0					19																	46021017		2203	4300	6503	SO:0001819	synonymous_variant	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46021017C>T		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.102C>T	19.37:g.46021017C>T						VASP_ENST00000586619.1_3'UTR	p.S34S	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	2	458	+		Ovarian(192;0.051)|all_neural(266;0.112)	34			WH1.		B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	c.102C>T	CCDS33051.1																																																																																				0.642	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			4	67	0	0	0	0.150653	0	4	67				
KCNA1	3736	broad.mit.edu	37	12	5020549	5020549	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:5020549C>T	ENST00000382545.3	+	2	1112	c.5C>T	c.(4-6)aCg>aTg	p.T2M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	2					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCCACCATGACGGTGATGTCT	0.741																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(4-6)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						12.0	15.0	14.0					12																	5020549		2129	4155	6284	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020549C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.5C>T	12.37:g.5020549C>T	ENSP00000371985:p.Thr2Met					KCNA1_ENST00000543874.2_Intron	p.T2M	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1112	+			2					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.5C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882671	0.72410	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96619	-4.07	3.64	3.64	0.41730	.	0.107759	0.64402	D	0.000006	D	0.96636	0.8902	M	0.63843	1.955	0.80722	D	1	D	0.60160	0.987	P	0.55667	0.781	D	0.97108	0.9802	10	0.87932	D	0	.	14.8572	0.70347	0.0:1.0:0.0:0.0	.	2	Q09470	KCNA1_HUMAN	M	2	ENSP00000371985:T2M	ENSP00000228858:T2M	T	+	2	0	KCNA1	4890810	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.507000	0.81676	2.053000	0.61076	0.555000	0.69702	ACG		0.741	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		10	19	0	0	0	0.411799	0	10	19				
WNK2	65268	broad.mit.edu	37	9	96051602	96051602	+	Silent	SNP	C	C	T	rs368320959		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:96051602C>T	ENST00000297954.4	+	20	4677	c.4677C>T	c.(4675-4677)acC>acT	p.T1559T	WNK2_ENST00000427277.2_Silent_p.T1134T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.T1171T|WNK2_ENST00000395477.2_Silent_p.T1522T|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1559					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGGGCCCACCGTCCCCCCAC	0.711																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4675-4677)acC>acT		WNK lysine deficient protein kinase 2		C		1,4345		0,1,2172	9.0	10.0	10.0		4566	-10.6	0.0	9		10	0,8514		0,0,4257	no	coding-synonymous	WNK2	NM_006648.3		0,1,6429	TT,TC,CC		0.0,0.023,0.0078		1522/2218	96051602	1,12859	2173	4257	6430	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051602C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4677C>T	9.37:g.96051602C>T						WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.T1134T|WNK2_ENST00000349097.3_Silent_p.T1171T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.T1522T	p.T1559T			Q9Y3S1	WNK2_HUMAN			20	4677	+			1559					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4677C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.112|0.112	-1.137232|-1.137232	0.01742|0.01742	2.3E-4|2.3E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000411624	.|.	.|.	.|.	5.32|5.32	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.21881|0.21881	0.0527|0.0527	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.15037|0.15037	-1.0451|-1.0451	4|4	.|.	.|.	.|.	.|.	6.8835|6.8835	0.24187|0.24187	0.0701:0.1259:0.197:0.6071|0.0701:0.1259:0.197:0.6071	.|.	.|.	.|.	.|.	L|C	1518;319;45|1126	.|.	.|.	P|R	+|+	2|1	0|0	WNK2|WNK2	95091423|95091423	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.056000|-2.056000	0.01396|0.01396	-2.024000|-2.024000	0.00936|0.00936	-0.975000|-0.975000	0.02590|0.02590	CCG|CGT		0.711	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		7	2	0	0	0	0.307466	0	7	2				
MARCH8	220972	broad.mit.edu	37	10	45953840	45953840	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:45953840A>G	ENST00000319836.3	-	7	1472	c.723T>C	c.(721-723)tgT>tgC	p.C241C	MARCH8_ENST00000395771.3_Silent_p.C241C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.C241C|MARCH8_ENST00000453424.2_Silent_p.C523C	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	241					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTGTTTCTGGACAGTTTTGAA	0.358																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1567-1569)tgT>tgC		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							143.0	149.0	147.0					10																	45953840		2203	4300	6503	SO:0001819	synonymous_variant	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45953840A>G	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.723T>C	10.37:g.45953840A>G						MARCH8_ENST00000395771.3_Silent_p.C241C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.C241C|MARCH8_ENST00000319836.3_Silent_p.C241C	p.C523C			Q5T0T0	MARH8_HUMAN			8	1830	-			241					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	ENST00000319836.3	37	c.1569T>C	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	9.503	1.103835	0.20632	.	.	ENSG00000165406	ENST00000453424	.	.	.	5.67	0.682	0.17992	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46091	-0.9216	4	.	.	.	-15.552	8.9009	0.35495	0.5462:0.0:0.4538:0.0	.	.	.	.	P	406	.	.	S	-	1	0	MARCH8	45273846	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.532000	0.36029	-0.113000	0.11958	0.533000	0.62120	TCC		0.358	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		80	226	0	0	0	0.870114	0	80	226				
LRIG3	121227	broad.mit.edu	37	12	59274640	59274640	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:59274640C>T	ENST00000320743.3	-	13	1810	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	LRIG3_ENST00000379141.4_Silent_p.Q448Q	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	508	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTATTGCCGACTGTGTTTCTG	0.428			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1522-1524)caG>caA		leucine-rich repeats and immunoglobulin-like domains 3							183.0	188.0	186.0					12																	59274640		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274640C>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1524G>A	12.37:g.59274640C>T						LRIG3_ENST00000379141.4_Silent_p.Q448Q	p.Q508Q	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1810	-			508			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1524G>A	CCDS8960.1																																																																																				0.428	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		109	221	0	0	0	0.870114	0	109	221				
POLG2	11232	broad.mit.edu	37	17	62487033	62487033	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:62487033G>A	ENST00000539111.2	-	4	916	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	283					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTCCTTTCCGGCCTTCTTCAT	0.383																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(847-849)ggC>ggT		polymerase (DNA directed), gamma 2, accessory subunit							107.0	99.0	101.0					17																	62487033		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62487033G>A	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.849C>T	17.37:g.62487033G>A							p.G283G	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		4	916	-	Breast(5;2.15e-14)		283					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.849C>T	CCDS32706.1																																																																																				0.383	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		5	207	0	0	0	0.217242	0	5	207				
ARHGEF7	8874	broad.mit.edu	37	13	111935618	111935618	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:111935618C>A	ENST00000375741.2	+	17	2171	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L463M|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L463M|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L548M|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L538M|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L620M|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L385M|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L591M|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L463M|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L463M	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	641					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTGGGGACCCCTGGAGCCTCC	0.706																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(1921-1923)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 7							43.0	41.0	41.0					13																	111935618		2181	4282	6463	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111935618C>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1921C>A	13.37:g.111935618C>A	ENSP00000364893:p.Leu641Met					ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L463M|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L385M|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L591M|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L548M|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L620M|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L463M|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L463M|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L538M|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L463M	p.L641M	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		17	2171	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		641					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1921C>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655595	0.67586	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T	0.65364	0.45;0.43;0.44;0.47;0.46;0.48;0.48;0.5;0.41;-0.15	4.73	2.99	0.34606	.	0.085303	0.49916	N	0.000139	T	0.72614	0.3482	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.99;1.0;0.999;0.999;0.999	T	0.69202	-0.5207	10	0.44086	T	0.13	.	9.3022	0.37853	0.1444:0.7794:0.0:0.0762	.	385;538;463;591;641;620	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	M	620;641;591;548;618;463;463;463;538;463;385	ENSP00000325994:L620M;ENSP00000364893:L641M;ENSP00000364891:L591M;ENSP00000359657:L548M;ENSP00000218789:L463M;ENSP00000364888:L463M;ENSP00000397068:L463M;ENSP00000364889:L538M;ENSP00000364875:L463M;ENSP00000417596:L385M	ENSP00000218789:L463M	L	+	1	2	ARHGEF7	110733619	0.985000	0.35326	0.969000	0.41365	0.979000	0.70002	2.672000	0.46850	0.420000	0.25954	0.561000	0.74099	CTG		0.706	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		5	6	1	0	3.59834e-05	0.217242	3.71784e-05	5	6				
NBPF10	100132406	broad.mit.edu	37	1	145367814	145367814	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:145367814A>G	ENST00000342960.5	+	83	10445	c.10410A>G	c.(10408-10410)ccA>ccG	p.P3470P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	765						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAACCCACCATGCCCCAGGT	0.428																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10408-10410)ccA>ccG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367814A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10410A>G	1.37:g.145367814A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.P3470P	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10445	+	all_hematologic(923;0.032)		3470					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10410A>G	CCDS53355.1																																																																																				0.428	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		37	80	0	0	0	0.827153	0	37	80				
KIAA1211	57482	broad.mit.edu	37	4	57182200	57182200	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:57182200G>A	ENST00000504228.1	+	6	2637	c.2532G>A	c.(2530-2532)ccG>ccA	p.P844P	KIAA1211_ENST00000264229.6_Silent_p.P844P|KIAA1211_ENST00000541073.1_Silent_p.P837P			Q6ZU35	K1211_HUMAN	KIAA1211	844										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGCCTCACCGTTTGGAATAA	0.527																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2530-2532)ccG>ccA		KIAA1211							63.0	73.0	69.0					4																	57182200		2146	4271	6417	SO:0001819	synonymous_variant	57482							g.chr4:57182200G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2532G>A	4.37:g.57182200G>A						KIAA1211_ENST00000264229.6_Silent_p.P844P|KIAA1211_ENST00000541073.1_Silent_p.P837P	p.P844P			Q6ZU35	K1211_HUMAN			6	2637	+	Glioma(25;0.08)|all_neural(26;0.101)		844					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.2532G>A	CCDS43230.1																																																																																				0.527	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		18	15	0	0	0	0.592651	0	18	15				
ZFPM2	23414	broad.mit.edu	37	8	106646501	106646501	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:106646501C>T	ENST00000407775.2	+	5	698	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	ZFPM2_ENST00000517361.1_Silent_p.L18L|ZFPM2_ENST00000520492.1_Silent_p.L18L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	150					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAATGGTGCTGACTGCTGG	0.408																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(448-450)Ctg>Ttg		zinc finger protein, FOG family member 2							80.0	80.0	80.0					8																	106646501		2019	4190	6209	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106646501C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.448C>T	8.37:g.106646501C>T						ZFPM2_ENST00000517361.1_Silent_p.L18L|ZFPM2_ENST00000520492.1_Silent_p.L18L	p.L150L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		5	698	+			150					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.448C>T	CCDS47908.1																																																																																				0.408	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			11	17	0	0	0	0.457914	0	11	17				
BAZ2B	29994	broad.mit.edu	37	2	160295144	160295144	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:160295144C>A	ENST00000392783.2	-	8	1458	c.963G>T	c.(961-963)caG>caT	p.Q321H	BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q319H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q321H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q319H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTTTTTCCTGGGCTTTTT	0.423																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(961-963)caG>caT		bromodomain adjacent to zinc finger domain, 2B							173.0	173.0	173.0					2																	160295144		1835	4105	5940	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295144C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.963G>T	2.37:g.160295144C>A	ENSP00000376534:p.Gln321His					BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q319H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q321H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q319H	p.Q321H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			8	1458	-			321					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.963G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216885	0.39201	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.05	3.22	0.36961	.	0.000000	0.35151	U	0.003413	T	0.22205	0.0535	L	0.60455	1.87	0.42249	D	0.991963	D;D;P;P;P	0.71674	0.995;0.998;0.936;0.936;0.894	D;D;P;P;B	0.77004	0.989;0.984;0.466;0.471;0.28	T	0.00909	-1.1518	10	0.87932	D	0	-0.9774	10.8492	0.46761	0.0:0.7767:0.0:0.2233	.	319;321;319;319;321	Q6MZK7;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	H	319;321;321;319;258	ENSP00000376533:Q319H;ENSP00000376534:Q321H;ENSP00000348087:Q321H;ENSP00000339670:Q319H	ENSP00000339670:Q319H	Q	-	3	2	BAZ2B	160003390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.533000	0.45667	1.248000	0.43934	-0.142000	0.14014	CAG		0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			82	188	1	0	4.75426e-39	0.870114	5.31768e-39	82	188				
MET	4233	broad.mit.edu	37	7	116371797	116371797	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:116371797C>T	ENST00000318493.6	+	3	1463	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	MET_ENST00000436117.2_Missense_Mutation_p.R426C|MET_ENST00000397752.3_Missense_Mutation_p.R426C|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGCTTTGCAGCGCGTTGACTT	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1276-1278)Cgc>Tgc		met proto-oncogene							119.0	111.0	113.0					7																	116371797		1911	4115	6026	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116371797C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1276C>T	7.37:g.116371797C>T	ENSP00000317272:p.Arg426Cys					MET_ENST00000436117.2_Missense_Mutation_p.R426C|MET_ENST00000318493.6_Missense_Mutation_p.R426C|MET_ENST00000495962.1_3'UTR	p.R426C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		3	1476	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	426			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1276C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540383	0.45176	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.12569	2.67;2.67;2.67	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.47407	-0.9120	10	0.87932	D	0	.	15.301	0.73952	0.1485:0.8515:0.0:0.0	.	426;426;426;426;426;426;426;426;426;426;426	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	C	426	ENSP00000380860:R426C;ENSP00000317272:R426C;ENSP00000410980:R426C	ENSP00000317272:R426C	R	+	1	0	MET	116159033	1.000000	0.71417	0.623000	0.29173	0.113000	0.19764	4.448000	0.60027	2.624000	0.88883	0.655000	0.94253	CGC		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	119	0	0	0	0.184627	0	5	119				
ITIH2	3698	broad.mit.edu	37	10	7777015	7777015	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:7777015C>T	ENST00000358415.4	+	15	2084	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ITIH2_ENST00000379587.4_Silent_p.L629L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	640					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAGCGCATGCTGGCGGATGC	0.617																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1918-1920)Ctg>Ttg		inter-alpha-trypsin inhibitor heavy chain 2							52.0	44.0	47.0					10																	7777015		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7777015C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1918C>T	10.37:g.7777015C>T						ITIH2_ENST00000379587.4_Silent_p.L629L	p.L640L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			15	2084	+			640					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1918C>T	CCDS31141.1																																																																																				0.617	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		3	26	0	0	0	0.115264	0	3	26				
GAPDHS	26330	broad.mit.edu	37	19	36029483	36029483	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36029483A>G	ENST00000222286.4	+	4	463	c.347A>G	c.(346-348)tAc>tGc	p.Y116C	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	116					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCACAGGTGTACATGTTTAAG	0.522																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(346-348)tAc>tGc		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						104.0	93.0	97.0					19																	36029483		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36029483A>G	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.347A>G	19.37:g.36029483A>G	ENSP00000222286:p.Tyr116Cys						p.Y116C	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	463	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		116					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.347A>G	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350237	0.82132	.	.	ENSG00000105679	ENST00000222286	T	0.52754	0.65	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80600	-0.1310	10	0.87932	D	0	-22.1236	13.1951	0.59734	1.0:0.0:0.0:0.0	.	116	O14556	G3PT_HUMAN	C	116	ENSP00000222286:Y116C	ENSP00000222286:Y116C	Y	+	2	0	GAPDHS	40721323	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.250000	0.95477	1.983000	0.57843	0.533000	0.62120	TAC		0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		10	22	0	0	0	0.361761	0	10	22				
RNF19A	25897	broad.mit.edu	37	8	101299911	101299911	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:101299911C>T	ENST00000519449.1	-	3	808	c.492G>A	c.(490-492)agG>agA	p.R164R	RNF19A_ENST00000341084.2_Silent_p.R164R	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	164					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGATTTCTATCCTTAAATATT	0.373																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(490-492)agG>agA		ring finger protein 19A, RBR E3 ubiquitin protein ligase							103.0	107.0	106.0					8																	101299911		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299911C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.492G>A	8.37:g.101299911C>T						RNF19A_ENST00000341084.2_Silent_p.R164R	p.R164R	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	808	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		164					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.492G>A	CCDS6286.1																																																																																				0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		81	196	0	0	0	0.870114	0	81	196				
RHCG	51458	broad.mit.edu	37	15	90021181	90021181	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:90021181C>T	ENST00000268122.4	-	6	930	c.862G>A	c.(862-864)Gca>Aca	p.A288T	RHCG_ENST00000544600.1_Missense_Mutation_p.A288T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	288					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ACCCCTCCTGCGAGCGTGGCA	0.632																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(862-864)Gca>Aca		Rh family, C glycoprotein							53.0	52.0	52.0					15																	90021181		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90021181C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.862G>A	15.37:g.90021181C>T	ENSP00000268122:p.Ala288Thr					RHCG_ENST00000544600.1_Missense_Mutation_p.A288T	p.A288T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			6	930	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		288					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.862G>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038877	0.93630	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.47869	0.83;0.83	6.08	5.15	0.70609	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.88998	0.3419	9	.	.	.	-17.5515	17.3022	0.87185	0.0:0.8746:0.1254:0.0	.	288;288	A8K4D4;Q9UBD6	.;RHCG_HUMAN	T	288;288;279	ENSP00000438123:A288T;ENSP00000268122:A288T	.	A	-	1	0	RHCG	87822185	1.000000	0.71417	0.129000	0.21949	0.805000	0.45488	7.778000	0.85637	1.546000	0.49388	0.655000	0.94253	GCA		0.632	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		23	41	0	0	0	0.639603	0	23	41				
OR10G8	219869	broad.mit.edu	37	11	123900597	123900597	+	Missense_Mutation	SNP	G	G	A	rs200159598	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123900597G>A	ENST00000431524.1	+	1	301	c.268G>A	c.(268-270)Gct>Act	p.A90T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGTGGCAGGGCTATCTCCTT	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		22504	0.001		0.001	False		,,,				2504	0.0					ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(268-270)Gct>Act		olfactory receptor, family 10, subfamily G, member 8							205.0	180.0	188.0					11																	123900597		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900597G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.268G>A	11.37:g.123900597G>A	ENSP00000389072:p.Ala90Thr						p.A90T	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	301	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	90					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.268G>A	CCDS31704.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0	-2.709569	0.00094	.	.	ENSG00000234560	ENST00000431524	T	0.00524	6.82	2.95	0.678	0.17969	GPCR, rhodopsin-like superfamily (1);	0.625624	0.14034	N	0.345913	T	0.00210	0.0006	N	0.05554	-0.025	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39292	-0.9621	10	0.02654	T	1	.	4.9445	0.13982	0.1523:0.2087:0.6391:0.0	.	90	Q8NGN5	O10G8_HUMAN	T	90	ENSP00000389072:A90T	ENSP00000389072:A90T	A	+	1	0	OR10G8	123405807	0.000000	0.05858	0.013000	0.15412	0.022000	0.10575	-0.995000	0.03712	0.011000	0.14865	0.585000	0.79938	GCT		0.512	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		15	95	0	0	0	0.812448	0	15	95				
CCDC54	84692	broad.mit.edu	37	3	107096890	107096890	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:107096890A>G	ENST00000261058.1	+	1	703	c.456A>G	c.(454-456)atA>atG	p.I152M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	152										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GCTCCACGATACATTGTCTAG	0.403																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(454-456)atA>atG		coiled-coil domain containing 54							67.0	59.0	61.0					3																	107096890		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107096890A>G	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.456A>G	3.37:g.107096890A>G	ENSP00000261058:p.Ile152Met						p.I152M	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	703	+			152					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.456A>G	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329509	0.24167	.	.	ENSG00000138483	ENST00000261058	T	0.51071	0.72	5.23	-2.6	0.06190	.	0.709419	0.12721	N	0.444709	T	0.42359	0.1199	L	0.54323	1.7	0.09310	N	1	P	0.47677	0.899	P	0.48840	0.592	T	0.35724	-0.9777	10	0.62326	D	0.03	-4.9006	3.2297	0.06744	0.365:0.417:0.083:0.1351	.	152	Q8NEL0	CCD54_HUMAN	M	152	ENSP00000261058:I152M	ENSP00000261058:I152M	I	+	3	3	CCDC54	108579580	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.177000	0.09796	-0.030000	0.13804	0.377000	0.23210	ATA		0.403	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		38	90	0	0	0	0.812448	0	38	90				
ANK3	288	broad.mit.edu	37	10	61967865	61967865	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:61967865C>T	ENST00000280772.2	-	10	1314	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	ANK3_ENST00000503366.1_Missense_Mutation_p.A358T|ANK3_ENST00000373827.2_Missense_Mutation_p.A369T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	375					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCACAGTGGGCAGCCACGTGT	0.522																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(1123-1125)Gcc>Acc		ankyrin 3, node of Ranvier (ankyrin G)							162.0	135.0	144.0					10																	61967865		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61967865C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1123G>A	10.37:g.61967865C>T	ENSP00000280772:p.Ala375Thr					ANK3_ENST00000373827.2_Missense_Mutation_p.A369T|ANK3_ENST00000503366.1_Missense_Mutation_p.A358T	p.A375T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			10	1314	-			375					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.1123G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133393	0.94517	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304	T;T;T	0.71817	-0.6;-0.6;-0.6	4.78	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000796	D	0.83161	0.5194	M	0.66939	2.045	0.80722	D	1	P;D;P;D	0.89917	0.904;1.0;0.926;1.0	B;D;P;D	0.91635	0.431;0.99;0.759;0.999	D	0.85251	0.1044	10	0.87932	D	0	.	18.0096	0.89219	0.0:1.0:0.0:0.0	.	358;36;369;375	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	T	375;369;358;337;36;36	ENSP00000280772:A375T;ENSP00000362933:A369T;ENSP00000425236:A358T	ENSP00000280772:A375T	A	-	1	0	ANK3	61637871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	2.488000	0.83962	0.563000	0.77884	GCC		0.522	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		28	57	0	0	0	0.796494	0	28	57				
MT-CYB	4519	broad.mit.edu	37	M	14846	14846	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrM:14846G>A	ENST00000361789.2	+	1	100	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	MT-TP_ENST00000387461.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TL2_ENST00000387456.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	34			G -> S (in mitochondrial myopathy; sporadic). {ECO:0000269|PubMed:10502593}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GATGAAACTTCGGCTCACTCC	0.483																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(100-102)Ggc>Agc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14846G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.100G>A	M.37:g.14846G>A	ENSP00000354554:p.Gly34Ser						p.34_34insS							1	100	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.100G>A																																																																																					0.483	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		7	0	0	0	0	0.278610	0	7	0				
OLAH	55301	broad.mit.edu	37	10	15113840	15113840	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:15113840T>A	ENST00000378228.3	+	7	873	c.619T>A	c.(619-621)Ttt>Att	p.F207I	OLAH_ENST00000485251.1_Intron|OLAH_ENST00000378217.3_Missense_Mutation_p.F260I	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	207					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTGACATGTTTTGTTGGATC	0.328																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(778-780)Ttt>Att		oleoyl-ACP hydrolase							231.0	219.0	223.0					10																	15113840		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15113840T>A	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.619T>A	10.37:g.15113840T>A	ENSP00000367473:p.Phe207Ile					OLAH_ENST00000378228.3_Missense_Mutation_p.F207I|OLAH_ENST00000485251.1_Intron	p.F260I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			8	965	+			207					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.778T>A	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	t	17.08	3.297486	0.60086	.	.	ENSG00000152463	ENST00000378228;ENST00000378217	.	.	.	4.79	2.34	0.29019	Thioesterase (1);	0.099961	0.64402	N	0.000001	T	0.64091	0.2567	M	0.75150	2.29	0.19300	N	0.99997	D;P	0.89917	1.0;0.713	D;B	0.97110	1.0;0.303	T	0.54977	-0.8212	9	0.56958	D	0.05	-4.3439	9.5261	0.39165	0.2808:0.0:0.0:0.7192	.	207;260	Q9NV23;Q9NV23-2	SAST_HUMAN;.	I	207;260	.	ENSP00000367462:F260I	F	+	1	0	OLAH	15153846	0.708000	0.27876	0.000000	0.03702	0.087000	0.18053	1.617000	0.36943	0.374000	0.24650	0.363000	0.22086	TTT		0.328	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		98	180	0	0	0	0.870114	0	98	180				
MYLK4	340156	broad.mit.edu	37	6	2689172	2689172	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:2689172G>A	ENST00000274643.7	-	4	596	c.254C>T	c.(253-255)cCg>cTg	p.P85L	MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	85						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAATGGGGCCGGAGGAGCCGG	0.502																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(253-255)cCg>cTg		myosin light chain kinase family, member 4							119.0	128.0	125.0					6																	2689172		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2689172G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.254C>T	6.37:g.2689172G>A	ENSP00000274643:p.Pro85Leu					MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			4	596	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	85					A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.254C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239084	0.39598	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.68181	0.01;-0.31	5.23	5.23	0.72850	.	0.318740	0.22054	N	0.065265	T	0.52141	0.1716	L	0.52011	1.625	0.47819	D	0.999527	B	0.27679	0.185	B	0.20577	0.03	T	0.58335	-0.7654	10	0.87932	D	0	.	18.1489	0.89668	0.0:0.0:1.0:0.0	.	85	Q86YV6	MYLK4_HUMAN	L	85	ENSP00000268446:P85L;ENSP00000274643:P85L	ENSP00000268446:P85L	P	-	2	0	MYLK4	2634171	0.998000	0.40836	0.995000	0.50966	0.141000	0.21300	6.631000	0.74277	2.610000	0.88304	0.655000	0.94253	CCG		0.502	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		5	306	0	0	0	0.184627	0	5	306				
APOB	338	broad.mit.edu	37	2	21233356	21233356	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:21233356T>C	ENST00000233242.1	-	26	6511	c.6384A>G	c.(6382-6384)tcA>tcG	p.S2128S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2128	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAATTGAATGAATTCAGAT	0.358																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6382-6384)tcA>tcG		apolipoprotein B	Atorvastatin(DB01076)						68.0	68.0	68.0					2																	21233356		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233356T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6384A>G	2.37:g.21233356T>C							p.S2128S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6511	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2128			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6384A>G	CCDS1703.1																																																																																				0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			31	82	0	0	0	0.760397	0	31	82				
ASB10	136371	broad.mit.edu	37	7	150883716	150883716	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:150883716A>G	ENST00000420175.2	-	2	371	c.347T>C	c.(346-348)cTg>cCg	p.L116P	ASB10_ENST00000422024.1_Missense_Mutation_p.L161P|ASB10_ENST00000434669.1_Missense_Mutation_p.L161P|ASB10_ENST00000377867.3_Missense_Mutation_p.L101P|ASB10_ENST00000275838.1_Missense_Mutation_p.L116P			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	116					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGTGGTCAGCTCCTCTTC	0.662																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(481-483)cTg>cCg		ankyrin repeat and SOCS box containing 10							15.0	17.0	17.0					7																	150883716		2202	4294	6496	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150883716A>G	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.347T>C	7.37:g.150883716A>G	ENSP00000391137:p.Leu116Pro					ASB10_ENST00000275838.1_Missense_Mutation_p.L116P|ASB10_ENST00000434669.1_Missense_Mutation_p.L161P|ASB10_ENST00000420175.2_Missense_Mutation_p.L116P|ASB10_ENST00000377867.3_Missense_Mutation_p.L101P	p.L161P	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	607	-			116					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.482T>C	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204468	0.79127	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.91	4.91	0.64330	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.64605	0.2613	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	T	0.62544	-0.6832	10	0.27785	T	0.31	-4.9832	13.7415	0.62852	1.0:0.0:0.0:0.0	.	101;116;161	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	P	116;101;161;161;116	ENSP00000275838:L116P;ENSP00000367098:L101P;ENSP00000401369:L161P;ENSP00000398247:L161P;ENSP00000391137:L116P	ENSP00000275838:L116P	L	-	2	0	ASB10	150514649	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.902000	0.75699	1.834000	0.53371	0.402000	0.26972	CTG		0.662	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		3	16	0	0	0	0.115264	0	3	16				
BSCL2	26580	broad.mit.edu	37	11	62462149	62462149	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62462149A>G	ENST00000403550.1	-	4	752	c.329T>C	c.(328-330)tTa>tCa	p.L110S	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.L110S|BSCL2_ENST00000360796.5_Missense_Mutation_p.L174S|BSCL2_ENST00000433053.1_Missense_Mutation_p.L174S|BSCL2_ENST00000405837.1_Missense_Mutation_p.L174S|BSCL2_ENST00000407022.3_Missense_Mutation_p.L110S|BSCL2_ENST00000421906.1_Missense_Mutation_p.L110S|BSCL2_ENST00000537604.1_5'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	110					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTCAAGCTCTAAGGTAACACG	0.448											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(520-522)tTa>tCa		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							129.0	100.0	110.0					11																	62462149		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62462149A>G		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.329T>C	11.37:g.62462149A>G	ENSP00000385561:p.Leu110Ser		OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	BSCL2_ENST00000405837.1_Missense_Mutation_p.L174S|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.L110S|BSCL2_ENST00000421906.1_Missense_Mutation_p.L110S|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.L174S|BSCL2_ENST00000403550.1_Missense_Mutation_p.L110S|BSCL2_ENST00000407022.3_Missense_Mutation_p.L110S	p.L174S			Q96G97	BSCL2_HUMAN			5	1077	-			110					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.521T>C	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974213	0.74246	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862	D;D;D;D;D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.42	4.22	0.49857	.	0.220523	0.29314	U	0.012518	D	0.95487	0.8534	M	0.86028	2.79	0.43417	D	0.995564	D;D;D;D	0.69078	0.997;0.986;0.973;0.992	D;D;P;D	0.68483	0.954;0.958;0.89;0.958	D	0.95554	0.8623	10	0.87932	D	0	-5.1064	10.2307	0.43253	0.8335:0.1665:0.0:0.0	.	110;110;174;110	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	S	174;174;110;174;110;110;110;110;41;174	ENSP00000385332:L174S;ENSP00000414002:L174S;ENSP00000278893:L110S;ENSP00000354032:L174S;ENSP00000385561:L110S;ENSP00000384080:L110S;ENSP00000413209:L110S;ENSP00000413340:L110S;ENSP00000436026:L41S;ENSP00000433888:L174S	ENSP00000278893:L110S	L	-	2	0	BSCL2	62218725	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	6.084000	0.71335	2.052000	0.61016	0.460000	0.39030	TTA		0.448	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		19	42	0	0	0	0.624587	0	19	42				
VWF	7450	broad.mit.edu	37	12	6122671	6122671	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6122671A>G	ENST00000261405.5	-	32	5850	c.5596T>C	c.(5596-5598)Tcc>Ccc	p.S1866P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1866	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGAGGAAGGAATTGCCCAAG	0.483																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5596-5598)Tcc>Ccc		von Willebrand factor	Antihemophilic Factor(DB00025)						95.0	99.0	98.0					12																	6122671		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6122671A>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5596T>C	12.37:g.6122671A>G	ENSP00000261405:p.Ser1866Pro						p.S1866P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			32	5850	-			1866			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5596T>C	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.208187	0.39003	.	.	ENSG00000110799	ENST00000261405	T	0.78246	-1.16	5.21	2.72	0.32119	von Willebrand factor, type A (1);	0.180503	0.27289	N	0.020053	T	0.75133	0.3808	M	0.76002	2.32	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.68754	-0.5325	10	0.52906	T	0.07	.	6.9189	0.24376	0.5938:0.2858:0.0:0.1204	.	1866	P04275	VWF_HUMAN	P	1866	ENSP00000261405:S1866P	ENSP00000261405:S1866P	S	-	1	0	VWF	5992932	0.758000	0.28405	0.576000	0.28549	0.822000	0.46500	1.356000	0.34079	1.971000	0.57363	0.528000	0.53228	TCC		0.483	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		9	148	0	0	0	0.307466	0	9	148				
PAG1	55824	broad.mit.edu	37	8	81897572	81897572	+	Silent	SNP	G	G	A	rs113484085		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:81897572G>A	ENST00000220597.4	-	7	1025	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	105					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGACTTCCTCGTAATGCTGCA	0.498																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(313-315)taC>taT		phosphoprotein associated with glycosphingolipid microdomains 1		G		0,4406		0,0,2203	45.0	44.0	44.0		315	-4.7	0.8	8	dbSNP_132	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PAG1	NM_018440.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		105/433	81897572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81897572G>A	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.315C>T	8.37:g.81897572G>A							p.Y105Y	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		7	1025	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		105					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	c.315C>T	CCDS6227.1																																																																																				0.498	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		21	38	0	0	0	0.639603	0	21	38				
ITGAX	3687	broad.mit.edu	37	16	31374511	31374511	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:31374511T>C	ENST00000268296.4	+	14	1647	c.1526T>C	c.(1525-1527)gTt>gCt	p.V509A	ITGAX_ENST00000562522.1_Missense_Mutation_p.V509A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	509					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGTGATGCTGTTCTCTACGGG	0.642																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1525-1527)gTt>gCt		integrin, alpha X (complement component 3 receptor 4 subunit)							103.0	109.0	107.0					16																	31374511		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374511T>C	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1526T>C	16.37:g.31374511T>C	ENSP00000268296:p.Val509Ala					ITGAX_ENST00000562522.1_Missense_Mutation_p.V509A	p.V509A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			14	1647	+			509					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1526T>C	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	4.346	0.063592	0.08388	.	.	ENSG00000140678	ENST00000268296	T	0.10763	2.84	3.76	2.65	0.31530	.	.	.	.	.	T	0.11410	0.0278	M	0.66439	2.03	0.26183	N	0.979703	B	0.26041	0.14	B	0.26416	0.069	T	0.34625	-0.9821	9	0.20046	T	0.44	.	5.3428	0.15992	0.0:0.1432:0.0:0.8568	.	509	P20702	ITAX_HUMAN	A	509	ENSP00000268296:V509A	ENSP00000268296:V509A	V	+	2	0	ITGAX	31282012	0.001000	0.12720	0.105000	0.21289	0.032000	0.12392	0.914000	0.28624	0.461000	0.27071	0.377000	0.23210	GTT		0.642	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		61	146	0	0	0	0.870114	0	61	146				
CTAGE1	64693	broad.mit.edu	37	18	19996082	19996082	+	5'Flank	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:19996082C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.A565T			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CACGGAGGTGCCAGGGGCCCA	0.498																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1693-1695)Gca>Aca		cutaneous T-cell lymphoma-associated antigen 1							68.0	70.0	69.0					18																	19996082		2198	4299	6497	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996082C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996082C>T	Exception_encountered						p.A565T	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	1796	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		565					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1693G>A		.	.	.	.	.	.	.	.	.	.	A	13.67	2.306306	0.40795	.	.	ENSG00000212710	ENST00000391403	T	0.44482	0.92	0.779	-0.834	0.10779	.	.	.	.	.	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.21008	-1.0258	8	.	.	.	.	2.212	0.03950	0.4236:0.3183:0.2581:0.0	.	565	Q96RT6	CTGE2_HUMAN	T	565	ENSP00000375220:A565T	.	A	-	1	0	CTAGE1	18250080	0.986000	0.35501	0.000000	0.03702	0.000000	0.00434	0.919000	0.28692	-1.062000	0.03181	-1.373000	0.01185	GCA		0.498	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		36	80	0	0	0	0.812448	0	36	80				
HECW2	57520	broad.mit.edu	37	2	197092917	197092917	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:197092917G>T	ENST00000260983.3	-	22	4008	c.3826C>A	c.(3826-3828)Cca>Aca	p.P1276T	HECW2_ENST00000409111.1_Missense_Mutation_p.P920T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1276	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCATAATATGGGTTAAAGAGT	0.353																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3826-3828)Cca>Aca		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							88.0	90.0	90.0					2																	197092917		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197092917G>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3826C>A	2.37:g.197092917G>T	ENSP00000260983:p.Pro1276Thr					HECW2_ENST00000409111.1_Missense_Mutation_p.P920T	p.P1276T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			22	4008	-			1276			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3826C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727227	0.89390	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.59083	0.29;0.29	5.44	5.44	0.79542	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83968	0.0325	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	1276	Q9P2P5	HECW2_HUMAN	T	920;1276	ENSP00000386775:P920T;ENSP00000260983:P1276T	ENSP00000260983:P1276T	P	-	1	0	HECW2	196801162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.828000	0.97474	0.655000	0.94253	CCA		0.353	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		43	84	1	0	6.2361e-21	0.834066	6.82074e-21	43	84				
HNRNPUL2	221092	broad.mit.edu	37	11	62489666	62489666	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62489666A>G	ENST00000301785.5	-	7	1474	c.1282T>C	c.(1282-1284)Ttt>Ctt	p.F428L	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.F428L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	428						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGAACACAAACTCTTCTGGT	0.502																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1282-1284)Ttt>Ctt		heterogeneous nuclear ribonucleoprotein U-like 2							90.0	92.0	91.0					11																	62489666		2020	4190	6210	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62489666A>G		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1282T>C	11.37:g.62489666A>G	ENSP00000301785:p.Phe428Leu					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.F428L	p.F428L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			7	1474	-			428					Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1282T>C	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458993	0.84317	.	.	ENSG00000214753	ENST00000301785	T	0.46451	0.87	5.65	5.65	0.86999	.	0.053655	0.85682	D	0.000000	T	0.34337	0.0894	L	0.39898	1.24	0.53005	D	0.999964	B	0.34103	0.437	B	0.28991	0.097	T	0.19063	-1.0317	10	0.52906	T	0.07	-10.5608	13.8738	0.63638	1.0:0.0:0.0:0.0	.	428	Q1KMD3	HNRL2_HUMAN	L	428	ENSP00000301785:F428L	ENSP00000301785:F428L	F	-	1	0	HNRNPUL2	62246242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	TTT		0.502	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		3	182	0	0	0	0.115264	0	3	182				
ZFHX3	463	broad.mit.edu	37	16	72993580	72993580	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:72993580G>A	ENST00000268489.5	-	2	1137	c.465C>T	c.(463-465)ggC>ggT	p.G155G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	155					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCCACAGGCGCCCCCGCCCT	0.672																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(463-465)ggC>ggT		zinc finger homeobox 3							29.0	35.0	33.0					16																	72993580		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993580G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.465C>T	16.37:g.72993580G>A						ZFHX3_ENST00000397992.5_Intron	p.G155G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1137	-		Ovarian(137;0.13)	155					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.465C>T	CCDS10908.1																																																																																				0.672	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		16	37	0	0	0	0.608945	0	16	37				
KIF13B	23303	broad.mit.edu	37	8	28967545	28967545	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:28967545C>T	ENST00000524189.1	-	33	4011	c.3973G>A	c.(3973-3975)Gca>Aca	p.A1325T	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1325					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACATTGGCTGCCATTCTTGCT	0.463																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3973-3975)Gca>Aca		kinesin family member 13B							47.0	45.0	46.0					8																	28967545		1996	4191	6187	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28967545C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3973G>A	8.37:g.28967545C>T	ENSP00000427900:p.Ala1325Thr						p.A1325T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	33	4011	-		Ovarian(32;0.000536)	1325					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3973G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778704	0.70107	.	.	ENSG00000197892	ENST00000524189	D	0.83506	-1.73	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.90821	0.4709	10	0.87932	D	0	.	18.7866	0.91957	0.0:1.0:0.0:0.0	.	1325	F8VPJ2	.	T	1325	ENSP00000427900:A1325T	ENSP00000427900:A1325T	A	-	1	0	KIF13B	29023464	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.211000	0.77933	2.662000	0.90505	0.650000	0.86243	GCA		0.463	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			4	6	0	0	0	0.184627	0	4	6				
MTCL1	23255	broad.mit.edu	37	18	8793021	8793021	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:8793021A>T	ENST00000359865.3	+	8	2055	c.1913A>T	c.(1912-1914)gAg>gTg	p.E638V	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron	NM_015210.3	NP_056025.2																					GTTTTACCTGAGCAGAGTGTA	0.527																																						ENST00000359865.3																			0											c.(1912-1914)gAg>gTg		SOGA family member 2							94.0	105.0	102.0					18																	8793021		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8793021A>T																												ENST00000359865.3:c.1913A>T	18.37:g.8793021A>T	ENSP00000352927:p.Glu638Val					SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron	p.E638V	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2055	+			980						Missense_Mutation	SNP	ENST00000359865.3	37	c.1913A>T	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286397	0.40494	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.40225	1.04	5.36	4.13	0.48395	.	0.789864	0.10704	N	0.643621	T	0.28300	0.0699	N	0.14661	0.345	0.80722	D	1	B	0.19331	0.035	B	0.16289	0.015	T	0.08472	-1.0720	10	0.52906	T	0.07	.	11.2976	0.49288	0.8104:0.0:0.0:0.1896	.	638	Q9Y4B5-3	.	V	659;638	ENSP00000352927:E638V	ENSP00000305027:E659V	E	+	2	0	CCDC165	8783021	1.000000	0.71417	0.998000	0.56505	0.759000	0.43091	3.328000	0.52052	2.174000	0.68829	0.459000	0.35465	GAG		0.527	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			65	107	0	0	0	0.870114	0	65	107				
ENPP7	339221	broad.mit.edu	37	17	77710966	77710966	+	Missense_Mutation	SNP	G	G	A	rs140556423		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:77710966G>A	ENST00000328313.5	+	4	1374	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTTGAGAGCGTCCACGTGTA	0.627																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1153-1155)Gtc>Atc		ectonucleotide pyrophosphatase/phosphodiesterase 7		G	ILE/VAL	0,4406		0,0,2203	77.0	65.0	69.0		1153	-1.0	0.7	17	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPP7	NM_178543.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	385/459	77710966	1,13005	2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77710966G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1153G>A	17.37:g.77710966G>A	ENSP00000332656:p.Val385Ile						p.V385I	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1374	+			385						Missense_Mutation	SNP	ENST00000328313.5	37	c.1153G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072661	0.36566	0.0	1.16E-4	ENSG00000182156	ENST00000328313	T	0.74947	-0.89	3.51	-1.05	0.10036	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.069888	0.56097	D	0.000026	T	0.45836	0.1362	N	0.04994	-0.135	0.44719	D	0.99771	B	0.23249	0.082	B	0.23419	0.046	T	0.10590	-1.0623	10	0.12766	T	0.61	-38.4788	8.7098	0.34376	0.3318:0.0:0.6682:0.0	.	385	Q6UWV6	ENPP7_HUMAN	I	385	ENSP00000332656:V385I	ENSP00000332656:V385I	V	+	1	0	ENPP7	75325561	0.976000	0.34144	0.687000	0.30102	0.842000	0.47809	1.460000	0.35244	-0.256000	0.09473	-0.254000	0.11334	GTC		0.627	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		26	28	0	0	0	0.667858	0	26	28				
STX11	8676	broad.mit.edu	37	6	144508482	144508482	+	Missense_Mutation	SNP	G	G	A	rs372938807		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:144508482G>A	ENST00000367568.4	+	2	901	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	240	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCAGGCCGACACCCTGAA	0.627									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(718-720)Gac>Aac		syntaxin 11		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	61.0	52.0	55.0		718	5.4	1.0	6		55	0,8600		0,0,4300	no	missense	STX11	NM_003764.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	240/288	144508482	1,13005	2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508482G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.718G>A	6.37:g.144508482G>A	ENSP00000356540:p.Asp240Asn						p.D240N	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	901	+			240			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.718G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269386	0.59540	2.27E-4	0.0	ENSG00000135604	ENST00000367568	T	0.22743	1.94	5.45	5.45	0.79879	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.439627	0.27735	N	0.018080	T	0.27832	0.0685	L	0.61387	1.9	0.33241	D	0.557195	D	0.58620	0.983	P	0.54924	0.764	T	0.02398	-1.1165	10	0.39692	T	0.17	-26.1584	18.91	0.92479	0.0:0.0:1.0:0.0	.	240	O75558	STX11_HUMAN	N	240	ENSP00000356540:D240N	ENSP00000356540:D240N	D	+	1	0	STX11	144550175	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	4.936000	0.63506	2.555000	0.86185	0.655000	0.94253	GAC		0.627	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			12	30	0	0	0	0.387290	0	12	30				
MYH4	4622	broad.mit.edu	37	17	10348583	10348583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:10348583C>A	ENST00000255381.2	-	36	5376	c.5266G>T	c.(5266-5268)Gag>Tag	p.E1756*	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1756					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTTCTCCTCTGCATTGCGG	0.468																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5266-5268)Gag>Tag		myosin, heavy chain 4, skeletal muscle							258.0	201.0	221.0					17																	10348583		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348583C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5266G>T	17.37:g.10348583C>A	ENSP00000255381:p.Glu1756*					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1756*	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			36	5376	-			1756						Nonsense_Mutation	SNP	ENST00000255381.2	37	c.5266G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	45	11.809529	0.99605	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.58	5.58	0.84498	.	0.000000	0.37623	U	0.002008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.93	0.97115	0.0:1.0:0.0:0.0	.	.	.	.	X	1756	.	ENSP00000255381:E1756X	E	-	1	0	MYH4	10289308	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.769000	0.85360	2.791000	0.96007	0.491000	0.48974	GAG		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		16	249	1	0	3.32936e-07	0.539581	3.46122e-07	16	249				
LUZP2	338645	broad.mit.edu	37	11	24518815	24518815	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:24518815T>C	ENST00000336930.6	+	1	92	c.26T>C	c.(25-27)cTg>cCg	p.L9P	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	9						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCGCACTACCTGCTGCCTCTC	0.652																																						ENST00000336930.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(25-27)cTg>cCg		leucine zipper protein 2							29.0	29.0	29.0					11																	24518815		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:24518815T>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.26T>C	11.37:g.24518815T>C	ENSP00000336817:p.Leu9Pro					LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR	p.L9P			Q86TE4	LUZP2_HUMAN			1	92	+			9					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.26T>C	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306092	0.60305	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T	0.53206	0.63	5.0	3.85	0.44370	.	0.719515	0.12512	N	0.462402	T	0.56790	0.2009	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52396	-0.8581	10	0.87932	D	0	-4.9037	8.407	0.32621	0.1738:0.0:0.0:0.8262	.	9	Q86TE4	LUZP2_HUMAN	P	9	ENSP00000336817:L9P	ENSP00000336817:L9P	L	+	2	0	LUZP2	24475391	1.000000	0.71417	0.971000	0.41717	0.912000	0.54170	2.680000	0.46918	0.823000	0.34589	0.533000	0.62120	CTG		0.652	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		6	16	0	0	0	0.361761	0	6	16				
PHYHIP	9796	broad.mit.edu	37	8	22078925	22078925	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:22078925T>C	ENST00000321613.3	-	6	1390	c.934A>G	c.(934-936)Act>Gct	p.T312A	PHYHIP_ENST00000454243.2_Missense_Mutation_p.T312A	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	312										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCATCGGCAGTAGACAGACTC	0.637																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(934-936)Act>Gct		phytanoyl-CoA 2-hydroxylase interacting protein							59.0	67.0	64.0					8																	22078925		2105	4212	6317	SO:0001583	missense	9796							g.chr8:22078925T>C	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.934A>G	8.37:g.22078925T>C	ENSP00000320017:p.Thr312Ala					PHYHIP_ENST00000321613.3_Missense_Mutation_p.T312A	p.T312A	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1508	-			312					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.934A>G	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129493	0.77549	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132	T;T	0.48201	0.82;0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.74881	2.28	0.50313	D	0.999867	D	0.67145	0.996	P	0.62813	0.907	T	0.69731	-0.5066	10	0.59425	D	0.04	-16.901	14.1848	0.65598	0.0:0.0:0.0:1.0	.	312	Q92561	PHYIP_HUMAN	A	312;312;219	ENSP00000320017:T312A;ENSP00000415491:T312A	ENSP00000320017:T312A	T	-	1	0	PHYHIP	22134870	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.035000	0.88872	2.002000	0.58637	0.374000	0.22700	ACT		0.637	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		21	50	0	0	0	0.729181	0	21	50				
DPP3	10072	broad.mit.edu	37	11	66262690	66262690	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66262690C>T	ENST00000360510.2	+	13	1468	c.1403C>T	c.(1402-1404)gCa>gTa	p.A468V	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.A468V|DPP3_ENST00000453114.1_Missense_Mutation_p.A468V|DPP3_ENST00000530165.1_Missense_Mutation_p.A438V|DPP3_ENST00000531863.1_Missense_Mutation_p.A488V|DPP3_ENST00000532677.1_Missense_Mutation_p.A487V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	468					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GAAAAAGGAGCATTCAACTTT	0.612																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1459-1461)gCa>gTa		dipeptidyl-peptidase 3							85.0	85.0	85.0					11																	66262690		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66262690C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1403C>T	11.37:g.66262690C>T	ENSP00000353701:p.Ala468Val					DPP3_ENST00000541961.1_Missense_Mutation_p.A468V|DPP3_ENST00000453114.1_Missense_Mutation_p.A468V|DPP3_ENST00000530165.1_Missense_Mutation_p.A438V|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.A468V|DPP3_ENST00000531863.1_Missense_Mutation_p.A488V	p.A487V	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			13	1861	+			468					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1460C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652884	0.29336	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.8	2.96	0.34315	.	0.378221	0.32548	N	0.005947	T	0.09468	0.0233	N	0.04880	-0.145	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30707	-0.9969	10	0.25751	T	0.34	.	9.6003	0.39601	0.0:0.7793:0.0:0.2207	.	487;468	G3V1D3;Q9NY33	.;DPP3_HUMAN	V	488;487;468;468;468;438;366	ENSP00000432782:A488V;ENSP00000435284:A487V;ENSP00000353701:A468V;ENSP00000389943:A468V;ENSP00000440502:A468V;ENSP00000436941:A438V	ENSP00000353701:A468V	A	+	2	0	DPP3	66019266	0.902000	0.30710	0.536000	0.28039	0.705000	0.40729	1.817000	0.39002	0.395000	0.25257	-0.140000	0.14226	GCA		0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			25	62	0	0	0	0.717897	0	25	62				
ABCC4	10257	broad.mit.edu	37	13	95822853	95822853	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:95822853A>G	ENST00000376887.4	-	14	1871	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T	ABCC4_ENST00000412704.1_Missense_Mutation_p.I586T|ABCC4_ENST00000431522.1_Missense_Mutation_p.I586T|ABCC4_ENST00000536256.1_Missense_Mutation_p.I511T|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	586	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TAAAATTGTGATCTTCTCATG	0.368																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1756-1758)aTc>aCc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						93.0	88.0	90.0					13																	95822853		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95822853A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1757T>C	13.37:g.95822853A>G	ENSP00000366084:p.Ile586Thr					ABCC4_ENST00000536256.1_Missense_Mutation_p.I511T|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.I586T|ABCC4_ENST00000412704.1_Missense_Mutation_p.I586T	p.I586T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			14	1871	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		586			ABC transporter 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1757T>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196416	0.38806	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.61	4.4	0.53042	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.372553	0.33457	N	0.004893	T	0.49047	0.1534	N	0.00040	-2.495	0.41711	D	0.989458	B;B;B;B;B	0.18741	0.02;0.023;0.022;0.01;0.03	B;B;B;B;B	0.22601	0.013;0.04;0.025;0.04;0.027	T	0.53816	-0.8385	10	0.12430	T	0.62	.	12.6503	0.56757	0.8618:0.1382:0.0:0.0	.	511;586;586;586;586	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	T	586;586;511;586	ENSP00000388657:I586T;ENSP00000366084:I586T;ENSP00000442024:I511T;ENSP00000398562:I586T	ENSP00000366084:I586T	I	-	2	0	ABCC4	94620854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.413000	0.52686	0.924000	0.37069	0.454000	0.30748	ATC		0.368	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		23	45	0	0	0	0.681144	0	23	45				
ILF3	3609	broad.mit.edu	37	19	10787852	10787852	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:10787852A>G	ENST00000590261.1	+	4	425	c.425A>G	c.(424-426)gAc>gGc	p.D142G	ILF3_ENST00000318511.3_Missense_Mutation_p.D142G|ILF3_ENST00000588657.1_Missense_Mutation_p.D142G|ILF3_ENST00000250241.8_Missense_Mutation_p.D142G|ILF3_ENST00000592763.1_Missense_Mutation_p.D142G|ILF3_ENST00000449870.1_Missense_Mutation_p.D142G|ILF3_ENST00000420083.1_Missense_Mutation_p.D142G|ILF3_ENST00000407004.3_Missense_Mutation_p.D142G|ILF3_ENST00000589998.1_Missense_Mutation_p.D142G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	142	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GTAACAGAAGACAAGTACGAA	0.403																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(424-426)gAc>gGc		interleukin enhancer binding factor 3, 90kDa							131.0	132.0	132.0					19																	10787852		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10787852A>G	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.425A>G	19.37:g.10787852A>G	ENSP00000468156:p.Asp142Gly					ILF3_ENST00000420083.1_Missense_Mutation_p.D142G|ILF3_ENST00000588657.1_Missense_Mutation_p.D142G|ILF3_ENST00000589998.1_Missense_Mutation_p.D142G|ILF3_ENST00000250241.8_Missense_Mutation_p.D142G|ILF3_ENST00000592763.1_Missense_Mutation_p.D142G|ILF3_ENST00000318511.3_Missense_Mutation_p.D142G|ILF3_ENST00000590261.1_Missense_Mutation_p.D142G|ILF3_ENST00000407004.3_Missense_Mutation_p.D142G	p.D142G	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		5	742	+			142			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.425A>G	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.524251	0.64747	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	5.7	0.88788	DZF (2);	0.107337	0.64402	D	0.000009	T	0.64505	0.2604	L	0.58101	1.795	0.80722	D	1	D;D;B;D;D	0.71674	0.997;0.998;0.044;0.986;0.986	D;D;B;P;P	0.69824	0.942;0.966;0.03;0.737;0.783	T	0.66110	-0.6005	10	0.56958	D	0.05	.	14.94	0.70986	1.0:0.0:0.0:0.0	.	142;142;142;142;142	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	G	142	ENSP00000404121:D142G;ENSP00000315205:D142G;ENSP00000405436:D142G;ENSP00000384660:D142G;ENSP00000250241:D142G	ENSP00000250241:D142G	D	+	2	0	ILF3	10648852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.161000	0.67846	0.528000	0.53228	GAC		0.403	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			8	185	0	0	0	0.307466	0	8	185				
APOBEC3D	140564	broad.mit.edu	37	22	39425422	39425422	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:39425422A>G	ENST00000216099.8	+	5	1067	c.660A>G	c.(658-660)ctA>ctG	p.L220L	APOBEC3D_ENST00000381568.4_Silent_p.L220L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	220					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTAAAAACCTACTGAAAGCCT	0.512																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(658-660)ctA>ctG		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							124.0	110.0	114.0					22																	39425422		1568	3582	5150	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39425422A>G	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.660A>G	22.37:g.39425422A>G						APOBEC3D_ENST00000381568.4_Silent_p.L220L|APOBEC3D_ENST00000427494.2_Intron	p.L220L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			5	1067	+	Melanoma(58;0.04)		220					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.660A>G	CCDS46709.1																																																																																				0.512	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		51	45	0	0	0	0.870114	0	51	45				
ARID1B	57492	broad.mit.edu	37	6	157521896	157521896	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:157521896G>A	ENST00000350026.5	+	17	4130	c.4129G>A	c.(4129-4131)Gac>Aac	p.D1377N	ARID1B_ENST00000346085.5_Missense_Mutation_p.D1390N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1430N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1372N	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1377					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACGAGGGCGACATGTACAA	0.557																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4168-4170)Gac>Aac		AT rich interactive domain 1B (SWI1-like)							64.0	67.0	66.0					6																	157521896		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521896G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4129G>A	6.37:g.157521896G>A	ENSP00000055163:p.Asp1377Asn					ARID1B_ENST00000350026.5_Missense_Mutation_p.D1377N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1372N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1430N	p.D1390N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4169	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1377					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4168G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455219	0.43634	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02121	4.76;4.76;4.76;4.76;4.44	4.88	4.01	0.46588	.	0.049095	0.85682	D	0.000000	T	0.02304	0.0071	L	0.46157	1.445	0.53688	D	0.999979	D;D;D	0.60160	0.978;0.987;0.987	B;P;P	0.50352	0.434;0.638;0.638	T	0.55717	-0.8097	10	0.72032	D	0.01	.	13.2071	0.59803	0.0771:0.0:0.9229:0.0	.	1377;1390;1372	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	N	1390;1377;1430;1372;899	ENSP00000344546:D1390N;ENSP00000055163:D1377N;ENSP00000356116:D1430N;ENSP00000275248:D1372N;ENSP00000412835:D899N	ENSP00000275248:D1372N	D	+	1	0	ARID1B	157563588	1.000000	0.71417	0.740000	0.30986	0.363000	0.29612	9.420000	0.97426	1.181000	0.42912	0.655000	0.94253	GAC		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	119	0	0	0	0.217242	0	5	119				
G3BP1	10146	broad.mit.edu	37	5	151183518	151183518	+	Nonsense_Mutation	SNP	C	C	T	rs140218237		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:151183518C>T	ENST00000394123.3	+	12	1412	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	G3BP1_ENST00000356245.3_Nonsense_Mutation_p.R423*|G3BP1_ENST00000543466.1_Nonsense_Mutation_p.R241*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	423					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.R423*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGAAGGCGACCGACGAGATAA	0.572																																						ENST00000394123.3																			1	Substitution - Nonsense(1)	p.R423*(1)	skin(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1267-1269)Cga>Tga		GTPase activating protein (SH3 domain) binding protein 1							84.0	87.0	86.0					5																	151183518		2203	4300	6503	SO:0001587	stop_gained	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151183518C>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1267C>T	5.37:g.151183518C>T	ENSP00000377681:p.Arg423*					G3BP1_ENST00000543466.1_Nonsense_Mutation_p.R241*|G3BP1_ENST00000356245.3_Nonsense_Mutation_p.R423*	p.R423*			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	1412	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	423					Q5HYE9	Nonsense_Mutation	SNP	ENST00000394123.3	37	c.1267C>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736797	0.96865	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	.	.	.	5.36	5.36	0.76844	.	0.048447	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2203	19.4633	0.94927	0.0:1.0:0.0:0.0	.	.	.	.	X	423;241;423;265	.	ENSP00000274596:R265X	R	+	1	2	G3BP1	151163711	1.000000	0.71417	0.944000	0.38274	0.992000	0.81027	4.109000	0.57824	2.666000	0.90696	0.655000	0.94253	CGA		0.572	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		51	97	0	0	0	0.870114	0	51	97				
ARRB1	408	broad.mit.edu	37	11	74985123	74985123	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:74985123G>A	ENST00000420843.2	-	11	1006	c.909C>T	c.(907-909)agC>agT	p.S303S	ARRB1_ENST00000393505.4_Silent_p.S303S|ARRB1_ENST00000360025.3_Silent_p.S303S	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	303					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTCACAGGGTGCTAGAGGCCA	0.602																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(907-909)agC>agT		arrestin, beta 1							255.0	206.0	223.0					11																	74985123		2200	4293	6493	SO:0001819	synonymous_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74985123G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.909C>T	11.37:g.74985123G>A						ARRB1_ENST00000393505.4_Silent_p.S303S|ARRB1_ENST00000360025.3_Silent_p.S303S	p.S303S	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			11	1006	-			303					B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	c.909C>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244678	0.22796	.	.	ENSG00000137486	ENST00000532447	.	.	.	4.51	3.35	0.38373	.	.	.	.	.	T	0.60599	0.2281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58549	-0.7617	4	.	.	.	-11.1232	10.695	0.45894	0.1152:0.0:0.8848:0.0	.	.	.	.	Y	128	.	.	H	-	1	0	ARRB1	74662771	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.986000	0.56937	2.058000	0.61347	0.462000	0.41574	CAC		0.602	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		19	245	0	0	0	0.557998	0	19	245				
EIF4A3	9775	broad.mit.edu	37	17	78113889	78113889	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:78113889A>G	ENST00000269349.3	-	5	644	c.423T>C	c.(421-423)atT>atC	p.I141I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGGTGCCTCCAATGCAGGCAT	0.542																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(421-423)atT>atC		eukaryotic translation initiation factor 4A3							96.0	77.0	83.0					17																	78113889		2203	4300	6503	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78113889A>G	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.423T>C	17.37:g.78113889A>G							p.I141I	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		5	644	-	all_neural(118;0.117)		141			Helicase ATP-binding.		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.423T>C	CCDS11767.1																																																																																				0.542	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		35	58	0	0	0	0.796494	0	35	58				
PTGFRN	5738	broad.mit.edu	37	1	117491858	117491858	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:117491858A>G	ENST00000393203.2	+	4	1024	c.877A>G	c.(877-879)Aag>Gag	p.K293E		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	293	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGCTGAAGGAAAGGAACTGGA	0.498																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(877-879)Aag>Gag		prostaglandin F2 receptor inhibitor							118.0	108.0	111.0					1																	117491858		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117491858A>G	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.877A>G	1.37:g.117491858A>G	ENSP00000376899:p.Lys293Glu						p.K293E	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1024	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	293			Ig-like C2-type 3.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.877A>G	CCDS890.1	.	.	.	.	.	.	.	.	.	.	A	6.775	0.512004	0.12944	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.26223	1.75	5.77	4.64	0.57946	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.425446	0.27922	N	0.017313	T	0.03651	0.0104	N	0.14661	0.345	0.28657	N	0.906361	B	0.14012	0.009	B	0.12156	0.007	T	0.37150	-0.9718	10	0.02654	T	1	-36.5665	8.8267	0.35059	0.9134:0.0:0.0866:0.0	.	293	Q9P2B2	FPRP_HUMAN	E	293;152	ENSP00000376899:K293E	ENSP00000376899:K293E	K	+	1	0	PTGFRN	117293381	0.996000	0.38824	0.949000	0.38748	0.953000	0.61014	3.269000	0.51592	2.200000	0.70718	0.459000	0.35465	AAG		0.498	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		55	41	0	0	0	0.870114	0	55	41				
SLC3A2	6520	broad.mit.edu	37	11	62623778	62623778	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62623778G>A	ENST00000377890.2	+	1	205	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	SLC3A2_ENST00000377891.2_Missense_Mutation_p.V13M|SLC3A2_ENST00000377892.1_Missense_Mutation_p.V13M|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V13M|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000384693.1_RNA|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V13M|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000383926.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	13					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GATCGCCGTCGTGTCGATTCC	0.632																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(37-39)Gtg>Atg		solute carrier family 3 (amino acid transporter heavy chain), member 2							124.0	99.0	107.0					11																	62623778		2201	4299	6500	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62623778G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.37G>A	11.37:g.62623778G>A	ENSP00000367122:p.Val13Met					SLC3A2_ENST00000535296.1_Missense_Mutation_p.V13M|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V13M|SLC3A2_ENST00000377890.2_Missense_Mutation_p.V13M|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V13M	p.V13M			P08195	4F2_HUMAN			1	261	+			13					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.37G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280180	0.59758	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;D;D;D;D	0.99150	-5.37;-5.01;-5.07;-5.49;-5.13	4.03	-0.327	0.12694	.	.	.	.	.	D	0.95211	0.8447	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.28760	0.221;0.221;0.141;0.221	B;B;B;B	0.21546	0.011;0.015;0.01;0.035	D	0.91369	0.5118	9	0.52906	T	0.07	-1.2936	3.7809	0.08680	0.344:0.1832:0.4728:0.0	.	13;13;13;13	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	M	13	ENSP00000367124:V13M;ENSP00000367123:V13M;ENSP00000367122:V13M;ENSP00000367121:V13M;ENSP00000444236:V13M	ENSP00000367121:V13M	V	+	1	0	SLC3A2	62380354	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.473000	0.22132	-0.161000	0.10983	0.313000	0.20887	GTG		0.632	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		31	83	0	0	0	0.834066	0	31	83				
OR10G7	390265	broad.mit.edu	37	11	123909233	123909233	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909233G>A	ENST00000330487.5	-	1	484	c.476C>T	c.(475-477)aCc>aTc	p.T159I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGTCAATATGGTCTGGACAGC	0.572																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(475-477)aCc>aTc		olfactory receptor, family 10, subfamily G, member 7							148.0	143.0	144.0					11																	123909233		2200	4295	6495	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909233G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.476C>T	11.37:g.123909233G>A	ENSP00000329689:p.Thr159Ile						p.T159I	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	484	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	159					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.476C>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901174	0.33535	.	.	ENSG00000182634	ENST00000330487	T	0.00245	8.45	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.139097	0.33075	N	0.005307	T	0.00384	0.0012	M	0.63843	1.955	0.32397	N	0.55248	D	0.56287	0.975	D	0.68192	0.956	T	0.63594	-0.6602	10	0.41790	T	0.15	.	10.1133	0.42576	0.0:0.0:0.7995:0.2005	.	159	Q8NGN6	O10G7_HUMAN	I	159	ENSP00000329689:T159I	ENSP00000329689:T159I	T	-	2	0	OR10G7	123414443	0.000000	0.05858	0.748000	0.31131	0.372000	0.29890	-0.050000	0.11904	1.826000	0.53198	0.455000	0.32223	ACC		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		9	317	0	0	0	0.500413	0	9	317				
CXXC1	30827	broad.mit.edu	37	18	47812979	47812979	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:47812979A>G	ENST00000285106.6	-	3	867	c.153T>C	c.(151-153)caT>caC	p.H51H	CXXC1_ENST00000412036.2_Silent_p.H51H|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Silent_p.H51H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	51					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCAGTCCCCATGGAACCACT	0.632																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(151-153)caT>caC		CXXC finger protein 1							153.0	134.0	140.0					18																	47812979		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812979A>G	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.153T>C	18.37:g.47812979A>G						CXXC1_ENST00000412036.2_Silent_p.H51H|CXXC1_ENST00000589940.1_Silent_p.H51H|CXXC1_ENST00000587396.1_5'UTR	p.H51H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			3	867	-			51					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.153T>C	CCDS11945.1																																																																																				0.632	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		46	136	0	0	0	0.870114	0	46	136				
KIAA0319	9856	broad.mit.edu	37	6	24559327	24559327	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:24559327G>A	ENST00000378214.3	-	17	3172	c.2648C>T	c.(2647-2649)gCt>gTt	p.A883V	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A838V|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A874V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A883V|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A883V	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	883					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCCACTTCAGCAGCTTTGAG	0.507																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2620-2622)gCt>gTt		KIAA0319							75.0	66.0	69.0					6																	24559327		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24559327G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2648C>T	6.37:g.24559327G>A	ENSP00000367459:p.Ala883Val					KIAA0319_ENST00000543707.1_Missense_Mutation_p.A883V|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A883V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A883V|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A838V	p.A874V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			18	3263	-			883					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2621C>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291661	0.23564	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	3.94	3.94	0.45596	.	0.137175	0.49916	D	0.000128	T	0.08223	0.0205	L	0.50333	1.59	0.30371	N	0.782911	B;D;D	0.58268	0.275;0.971;0.982	B;P;P	0.55749	0.067;0.783;0.612	T	0.18555	-1.0333	10	0.15066	T	0.55	-17.5952	16.5743	0.84633	0.0:0.0:1.0:0.0	.	883;874;883	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	V	883;874;838;883;883	ENSP00000439700:A883V;ENSP00000442403:A874V;ENSP00000401086:A838V;ENSP00000367459:A883V;ENSP00000437656:A883V	ENSP00000367459:A883V	A	-	2	0	KIAA0319	24667306	0.999000	0.42202	0.883000	0.34634	0.996000	0.88848	3.302000	0.51849	2.184000	0.69523	0.650000	0.86243	GCT		0.507	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		5	31	0	0	0	0.184627	0	5	31				
LRP2	4036	broad.mit.edu	37	2	170030631	170030631	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:170030631T>C	ENST00000263816.3	-	56	11097	c.10812A>G	c.(10810-10812)aaA>aaG	p.K3604K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3604	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGATGCAACGTTTGTTGGCGC	0.507																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10810-10812)aaA>aaG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						101.0	84.0	90.0					2																	170030631		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170030631T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10812A>G	2.37:g.170030631T>C							p.K3604K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	56	11097	-			3604			LDL-receptor class A 28.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.10812A>G	CCDS2232.1																																																																																				0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		38	57	0	0	0	0.812448	0	38	57				
RNF14	9604	broad.mit.edu	37	5	141357883	141357883	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:141357883A>G	ENST00000394520.2	+	5	631	c.322A>G	c.(322-324)Aag>Gag	p.K108E	RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.K108E|RNF14_ENST00000347642.3_Missense_Mutation_p.K108E|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.K108E|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	108	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGCTCTATGCAAGCACTTAGA	0.448																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(322-324)Aag>Gag		ring finger protein 14							106.0	98.0	101.0					5																	141357883		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141357883A>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.322A>G	5.37:g.141357883A>G	ENSP00000378028:p.Lys108Glu					RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.K108E|RNF14_ENST00000347642.3_Missense_Mutation_p.K108E|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.K108E|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA	p.K108E	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	5	631	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	108			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.322A>G	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451499	0.43531	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.49	3.11	0.35812	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.230223	0.52532	N	0.000077	T	0.29288	0.0729	L	0.37697	1.125	0.38301	D	0.942984	B	0.30361	0.277	B	0.36378	0.223	T	0.08411	-1.0723	10	0.11182	T	0.66	.	5.8375	0.18615	0.7158:0.1402:0.1441:0.0	.	108	Q9UBS8	RNF14_HUMAN	E	108	ENSP00000423420:K108E;ENSP00000423273:K108E;ENSP00000348462:K108E;ENSP00000378028:K108E;ENSP00000324956:K108E;ENSP00000420837:K108E;ENSP00000422527:K108E;ENSP00000378027:K108E	ENSP00000324956:K108E	K	+	1	0	RNF14	141338067	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.947000	0.49058	0.398000	0.25338	0.460000	0.39030	AAG		0.448	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		44	93	0	0	0	0.864702	0	44	93				
TSHR	7253	broad.mit.edu	37	14	81609994	81609994	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:81609994G>A	ENST00000541158.2	+	11	1914	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	TSHR_ENST00000298171.2_Missense_Mutation_p.R531Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	531					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCCTGGACCGGAAGATCCGC	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1591-1593)cGg>cAg		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						474.0	320.0	372.0					14																	81609994		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609994G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1592G>A	14.37:g.81609994G>A	ENSP00000441235:p.Arg531Gln					TSHR_ENST00000298171.2_Missense_Mutation_p.R531Q|RP11-114N19.3_ENST00000557775.1_RNA	p.R531Q			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1914	+			531					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1592G>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712600	0.68730	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.39229	1.09;1.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.76433	2.335	0.58432	D	0.999995	D	0.89917	1.0	D	0.66716	0.946	T	0.58482	-0.7629	10	0.30854	T	0.27	.	13.5842	0.61919	0.0746:0.0:0.9254:0.0	.	531	F5GYU5	.	Q	531;178;531	ENSP00000441235:R531Q;ENSP00000298171:R531Q	ENSP00000298171:R531Q	R	+	2	0	TSHR	80679747	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.674000	0.74487	2.562000	0.86427	0.561000	0.74099	CGG		0.567	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		84	22	0	0	0	0.870114	0	84	22				
HOXC11	3227	broad.mit.edu	37	12	54367383	54367383	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:54367383T>A	ENST00000546378.1	+	1	474	c.358T>A	c.(358-360)Tcc>Acc	p.S120T	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S120T			O43248	HXC11_HUMAN	homeobox C11	120					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			large_intestine(1)|ovary(1)	2						AAACGAAGGCTCCTACGGCGG	0.637			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(358-360)Tcc>Acc		homeobox C11							90.0	110.0	103.0					12																	54367383		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367383T>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.358T>A	12.37:g.54367383T>A	ENSP00000446680:p.Ser120Thr					HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S120T|HOTAIR_ENST00000424518.1_RNA	p.S120T			O43248	HXC11_HUMAN			1	474	+			120					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.358T>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400372	0.25291	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.43294	0.95;0.95	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.185987	0.47455	D	0.000225	T	0.23611	0.0571	N	0.17474	0.49	0.30475	N	0.772955	B	0.15473	0.013	B	0.22152	0.038	T	0.17410	-1.0370	10	0.11485	T	0.65	.	8.812	0.34974	0.0:0.0:0.318:0.682	.	120	O43248	HXC11_HUMAN	T	120	ENSP00000446680:S120T;ENSP00000243082:S120T	ENSP00000243082:S120T	S	+	1	0	HOXC11	52653650	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.423000	0.66458	1.933000	0.56026	0.454000	0.30748	TCC		0.637	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			81	116	0	0	0	0.870114	0	81	116				
MCOLN1	57192	broad.mit.edu	37	19	7595355	7595355	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:7595355G>A	ENST00000264079.6	+	12	1668	c.1543G>A	c.(1543-1545)Gcg>Acg	p.A515T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	515					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCTTCATCGCGCTCATCAC	0.622																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1543-1545)Gcg>Acg		mucolipin 1							206.0	195.0	199.0					19																	7595355		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595355G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1543G>A	19.37:g.7595355G>A	ENSP00000264079:p.Ala515Thr						p.A515T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1668	+			515					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1543G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692800	0.88735	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.74315	-0.83	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	L	0.42245	1.32	0.80722	D	1	D;D	0.59767	0.965;0.986	P;P	0.52189	0.688;0.692	T	0.77127	-0.2702	10	0.48119	T	0.1	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	480;515	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	T	515;480	ENSP00000264079:A515T	ENSP00000264079:A515T	A	+	1	0	MCOLN1	7501355	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	9.476000	0.97823	2.478000	0.83669	0.563000	0.77884	GCG		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		122	84	0	0	0	0.870114	0	122	84				
ZNF12	7559	broad.mit.edu	37	7	6731351	6731351	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:6731351G>C	ENST00000405858.1	-	5	1763	c.1222C>G	c.(1222-1224)Ctc>Gtc	p.L408V	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.L334V|ZNF12_ENST00000342651.5_Missense_Mutation_p.L370V	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	408					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACTTGTAGAGTTTCACACCT	0.453																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1222-1224)Ctc>Gtc		zinc finger protein 12							76.0	77.0	76.0					7																	6731351		2072	4245	6317	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731351G>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1222C>G	7.37:g.6731351G>C	ENSP00000385939:p.Leu408Val					ZNF12_ENST00000404360.1_Missense_Mutation_p.L334V|ZNF12_ENST00000342651.5_Missense_Mutation_p.L370V|AC073343.13_ENST00000366167.2_RNA	p.L408V	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1763	-		Ovarian(82;0.0776)	408					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1222C>G	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439289	0.43326	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.18810	2.19;2.19;2.19	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001567	T	0.28896	0.0717	N	0.16037	0.36	0.29024	N	0.886102	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.893	T	0.08086	-1.0739	10	0.87932	D	0	.	14.4248	0.67207	0.0:0.0:1.0:0.0	.	408;370	P17014;P17014-5	ZNF12_HUMAN;.	V	334;408;370;466;370	ENSP00000384405:L334V;ENSP00000385939:L408V;ENSP00000344745:L370V	ENSP00000331039:L370V	L	-	1	0	ZNF12	6697876	0.999000	0.42202	0.934000	0.37439	0.597000	0.36814	5.282000	0.65615	2.523000	0.85059	0.655000	0.94253	CTC		0.453	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		19	60	0	0	0	0.539581	0	19	60				
ASB13	79754	broad.mit.edu	37	10	5690974	5690974	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:5690974G>A	ENST00000357700.6	-	4	502	c.476C>T	c.(475-477)gCc>gTc	p.A159V	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	159					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		ATGCTCCCGGGCACAGGCAAC	0.572																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(475-477)gCc>gTc		ankyrin repeat and SOCS box containing 13							121.0	108.0	112.0					10																	5690974		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5690974G>A	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.476C>T	10.37:g.5690974G>A	ENSP00000350331:p.Ala159Val					ASB13_ENST00000479033.1_5'UTR	p.A159V	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	4	502	-			159					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.476C>T	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402800	0.62288	.	.	ENSG00000196372	ENST00000357700	T	0.65178	-0.14	4.8	4.8	0.61643	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	L	0.39397	1.21	0.58432	D	0.999999	B;P	0.38677	0.093;0.642	B;B	0.42112	0.022;0.376	T	0.52909	-0.8512	10	0.15066	T	0.55	-5.7578	17.4626	0.87623	0.0:0.0:1.0:0.0	.	159;159	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	V	159	ENSP00000350331:A159V	ENSP00000350331:A159V	A	-	2	0	ASB13	5730980	1.000000	0.71417	0.981000	0.43875	0.787000	0.44495	5.408000	0.66368	2.227000	0.72691	0.313000	0.20887	GCC		0.572	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			21	60	0	0	0	0.654019	0	21	60				
ST3GAL4	6484	broad.mit.edu	37	11	126283516	126283516	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:126283516T>C	ENST00000526727.1	+	9	1262	c.888T>C	c.(886-888)taT>taC	p.Y296Y	ST3GAL4_ENST00000530591.1_Silent_p.Y292Y|ST3GAL4_ENST00000356132.4_Silent_p.Y302Y|ST3GAL4_ENST00000227495.6_Silent_p.Y292Y|ST3GAL4_ENST00000449406.2_Silent_p.Y285Y|ST3GAL4_ENST00000534083.1_Silent_p.Y296Y|ST3GAL4_ENST00000534457.1_Silent_p.Y291Y|ST3GAL4_ENST00000444328.2_Silent_p.Y296Y|ST3GAL4_ENST00000392669.2_Silent_p.Y296Y|ST3GAL4_ENST00000532243.1_Silent_p.Y295Y			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	296					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TTCACTACTATGAGCAGATCA	0.587																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(886-888)taT>taC		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							116.0	93.0	101.0					11																	126283516		2201	4297	6498	SO:0001819	synonymous_variant	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283516T>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.888T>C	11.37:g.126283516T>C						ST3GAL4_ENST00000356132.4_Silent_p.Y302Y|ST3GAL4_ENST00000530591.1_Silent_p.Y292Y|ST3GAL4_ENST00000534457.1_Silent_p.Y291Y|ST3GAL4_ENST00000532243.1_Silent_p.Y295Y|ST3GAL4_ENST00000444328.2_Silent_p.Y296Y|ST3GAL4_ENST00000534083.1_Silent_p.Y296Y|ST3GAL4_ENST00000392669.2_Silent_p.Y296Y|ST3GAL4_ENST00000449406.2_Silent_p.Y285Y|ST3GAL4_ENST00000227495.6_Silent_p.Y292Y	p.Y296Y			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	9	1262	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	296					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	c.888T>C	CCDS58193.1																																																																																				0.587	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		5	85	0	0	0	0.217242	0	5	85				
FREM2	341640	broad.mit.edu	37	13	39262566	39262566	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:39262566C>A	ENST00000280481.7	+	1	1301	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	362					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTACTTCTCCATTCCAGCCT	0.577																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1084-1086)cCa>cAa		FRAS1 related extracellular matrix protein 2							122.0	112.0	115.0					13																	39262566		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262566C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1085C>A	13.37:g.39262566C>A	ENSP00000280481:p.Pro362Gln						p.P362Q	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1301	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	362					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1085C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128830	0.37533	.	.	ENSG00000150893	ENST00000280481	T	0.23147	1.92	5.94	5.94	0.96194	.	0.222920	0.46758	D	0.000272	T	0.38026	0.1025	M	0.79258	2.445	0.54753	D	0.999982	B	0.16396	0.017	B	0.19391	0.025	T	0.17561	-1.0365	10	0.59425	D	0.04	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	362	Q5SZK8	FREM2_HUMAN	Q	362	ENSP00000280481:P362Q	ENSP00000280481:P362Q	P	+	2	0	FREM2	38160566	0.961000	0.32948	0.850000	0.33497	0.714000	0.41099	4.918000	0.63376	2.826000	0.97356	0.561000	0.74099	CCA		0.577	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		29	81	1	0	9.04072e-19	0.779181	9.82432e-19	29	81				
KPNA1	3836	broad.mit.edu	37	3	122170886	122170886	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:122170886G>A	ENST00000344337.6	-	7	766	c.590C>T	c.(589-591)gCt>gTt	p.A197V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	197	NLS binding site (major). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ACTATCTCCAGCAATGTTGCC	0.378																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(589-591)gCt>gTt		karyopherin alpha 1 (importin alpha 5)							177.0	180.0	179.0					3																	122170886		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122170886G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.590C>T	3.37:g.122170886G>A	ENSP00000343701:p.Ala197Val					KPNA1_ENST00000466923.1_5'UTR	p.A197V	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	7	766	-			197			NLS binding site (major) (By similarity).		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.590C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113463	0.94339	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.44	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.92275	0.5828	10	0.87932	D	0	-8.346	16.2297	0.82323	0.0:0.0:1.0:0.0	.	197	P52294	IMA1_HUMAN	V	197;197;197;153	ENSP00000343701:A197V;ENSP00000419890:A197V;ENSP00000417166:A197V;ENSP00000417319:A153V	ENSP00000343701:A197V	A	-	2	0	KPNA1	123653576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.301000	0.77427	0.585000	0.79938	GCT		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		60	334	0	0	0	0.870114	0	60	334				
USP13	8975	broad.mit.edu	37	3	179478997	179478997	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:179478997C>T	ENST00000263966.3	+	17	2517	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	USP13_ENST00000496897.1_Silent_p.G617G	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	682	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAAATATGGGCGCCGAGGTGG	0.522																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(2044-2046)ggC>ggT		ubiquitin specific peptidase 13 (isopeptidase T-3)							135.0	122.0	126.0					3																	179478997		2203	4300	6503	SO:0001819	synonymous_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179478997C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2046C>T	3.37:g.179478997C>T						USP13_ENST00000496897.1_Silent_p.G617G	p.G682G	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		17	2517	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		682			UBA 1.		A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.2046C>T	CCDS3235.1																																																																																				0.522	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			8	200	0	0	0	0.307466	0	8	200				
ZNF236	7776	broad.mit.edu	37	18	74587548	74587548	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:74587548C>A	ENST00000253159.8	+	6	960	c.762C>A	c.(760-762)gcC>gcA	p.A254A	ZNF236_ENST00000320610.9_Silent_p.A256A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	254					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AACCCCATGCCTGTGCCTTCT	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(760-762)gcC>gcA		zinc finger protein 236							124.0	126.0	126.0					18																	74587548		2016	4183	6199	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74587548C>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.762C>A	18.37:g.74587548C>A			OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	ZNF236_ENST00000320610.9_Silent_p.A256A	p.A254A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	6	960	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	254					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.762C>A	CCDS42447.1																																																																																				0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			76	108	1	0	6.43283e-47	0.870114	7.21438e-47	76	108				
LRPPRC	10128	broad.mit.edu	37	2	44175571	44175571	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:44175571A>G	ENST00000260665.7	-	17	1879	c.1822T>C	c.(1822-1824)Ttc>Ctc	p.F608L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	608					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTGATGGAAGTATTGTCTC	0.388																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1822-1824)Ttc>Ctc		leucine-rich pentatricopeptide repeat containing							127.0	112.0	117.0					2																	44175571		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44175571A>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1822T>C	2.37:g.44175571A>G	ENSP00000260665:p.Phe608Leu						p.F608L	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			17	1879	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	608					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1822T>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739237	0.49045	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.52754	0.65	5.72	5.72	0.89469	.	0.046282	0.85682	D	0.000000	T	0.68513	0.3009	M	0.80183	2.485	0.80722	D	1	P;D	0.76494	0.923;0.999	P;D	0.80764	0.689;0.994	T	0.66160	-0.5993	10	0.17832	T	0.49	-6.2013	16.2988	0.82793	1.0:0.0:0.0:0.0	.	508;608	F5H4J6;P42704	.;LPPRC_HUMAN	L	508;608	ENSP00000260665:F608L	ENSP00000260665:F608L	F	-	1	0	LRPPRC	44029075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.495000	0.90481	2.311000	0.77944	0.533000	0.62120	TTC		0.388	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		63	120	0	0	0	0.870114	0	63	120				
DSP	1832	broad.mit.edu	37	6	7583192	7583192	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:7583192C>A	ENST00000379802.3	+	24	6038	c.5697C>A	c.(5695-5697)atC>atA	p.I1899I	DSP_ENST00000418664.2_Silent_p.I1300I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1899	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAGTGAGATCGAAAGACTCC	0.458																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5695-5697)atC>atA		desmoplakin							80.0	84.0	83.0					6																	7583192		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583192C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5697C>A	6.37:g.7583192C>A						DSP_ENST00000418664.2_Silent_p.I1300I	p.I1899I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6038	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1899			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.5697C>A	CCDS4501.1																																																																																				0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		33	75	1	0	1.80694e-10	0.740014	1.90682e-10	33	75				
SLITRK6	84189	broad.mit.edu	37	13	86368261	86368261	+	Missense_Mutation	SNP	C	C	T	rs375069918		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:86368261C>T	ENST00000400286.2	-	2	2981	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	795					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.E795K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCAGCTCTTCGTGGGCTCCA	0.393																																						ENST00000400286.2																			1	Substitution - Missense(1)	p.E795K(1)	skin(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2383-2385)Gaa>Aaa		SLIT and NTRK-like family, member 6		C	LYS/GLU	1,3745		0,1,1872	155.0	145.0	148.0		2383	5.8	0.9	13		148	0,8202		0,0,4101	no	missense	SLITRK6	NM_032229.2	56	0,1,5973	TT,TC,CC		0.0,0.0267,0.0084	possibly-damaging	795/842	86368261	1,11947	1873	4101	5974	SO:0001583	missense	84189					integral to membrane		g.chr13:86368261C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2383G>A	13.37:g.86368261C>T	ENSP00000383143:p.Glu795Lys						p.E795K	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2981	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		795					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.2383G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993790	0.35131	2.67E-4	0.0	ENSG00000184564	ENST00000400286	T	0.56611	0.45	5.84	5.84	0.93424	.	0.563671	0.20101	N	0.099238	T	0.30166	0.0756	N	0.08118	0	0.58432	D	0.999992	P	0.44090	0.826	B	0.28139	0.086	T	0.26608	-1.0098	10	0.35671	T	0.21	-6.6524	18.719	0.91686	0.0:1.0:0.0:0.0	.	795	Q9H5Y7	SLIK6_HUMAN	K	795	ENSP00000383143:E795K	ENSP00000383143:E795K	E	-	1	0	SLITRK6	85266262	1.000000	0.71417	0.902000	0.35471	0.249000	0.25844	4.464000	0.60134	2.760000	0.94817	0.655000	0.94253	GAA		0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		108	181	0	0	0	0.870114	0	108	181				
CAMKK1	84254	broad.mit.edu	37	17	3775908	3775908	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:3775908T>C	ENST00000348335.2	-	12	1212	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	CAMKK1_ENST00000381769.2_Missense_Mutation_p.D382G|CAMKK1_ENST00000381771.2_Missense_Mutation_p.D393G|CAMKK1_ENST00000158166.5_Missense_Mutation_p.D393G	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GATGAAATCGTCGATGAATGG	0.612																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1177-1179)gAc>gGc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							109.0	95.0	100.0					17																	3775908		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3775908T>C	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1064A>G	17.37:g.3775908T>C	ENSP00000323118:p.Asp355Gly					CAMKK1_ENST00000348335.2_Missense_Mutation_p.D355G|CAMKK1_ENST00000381769.2_Missense_Mutation_p.D382G|CAMKK1_ENST00000158166.5_Missense_Mutation_p.D393G	p.D393G			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	13	1325	-			355			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.1178A>G	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682975	0.68157	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.24	5.24	0.73138	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	0.30355	0.0762	N	0.02916	-0.46	0.80722	D	1	B;B	0.30664	0.289;0.175	B;B	0.42798	0.209;0.398	T	0.42565	-0.9444	10	0.51188	T	0.08	-22.3148	14.3398	0.66617	0.0:0.0:0.0:1.0	.	393;355	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	G	382;355;393;393	ENSP00000371188:D382G;ENSP00000323118:D355G;ENSP00000371190:D393G;ENSP00000158166:D393G	ENSP00000158166:D393G	D	-	2	0	CAMKK1	3722657	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.581000	0.82535	1.990000	0.58119	0.528000	0.53228	GAC		0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		10	39	0	0	0	0.411799	0	10	39				
THADA	63892	broad.mit.edu	37	2	43801837	43801837	+	Missense_Mutation	SNP	G	G	A	rs574838357		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:43801837G>A	ENST00000405006.4	-	11	1718	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000403856.1_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M|THADA_ENST00000415080.2_Missense_Mutation_p.T166M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	456								p.T456M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAAGGCACGTGTACTTTCC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		21758	0.0		0.0	False		,,,				2504	0.001					ENST00000403856.1																			1	Substitution - Missense(1)	p.T456M(1)	lung(1)	breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1366-1368)aCg>aTg		thyroid adenoma associated							132.0	127.0	129.0					2																	43801837		1909	4108	6017	SO:0001583	missense	63892						binding	g.chr2:43801837G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1367C>T	2.37:g.43801837G>A	ENSP00000385995:p.Thr456Met					THADA_ENST00000415080.2_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000405006.4_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M|THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M	p.T456M			Q6YHU6	THADA_HUMAN			12	1514	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	456					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1367C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407655	0.11754	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65549	1.45;1.45;1.45;1.45;-0.16;-0.16;1.45	5.84	-2.61	0.06171	Armadillo-type fold (1);	0.837250	0.11048	N	0.605413	T	0.48624	0.1510	L	0.40543	1.245	0.09310	N	1	B;B;P;P;B	0.37594	0.174;0.036;0.601;0.599;0.007	B;B;B;B;B	0.32289	0.03;0.004;0.143;0.068;0.001	T	0.21143	-1.0254	10	0.41790	T	0.15	-9.3942	14.2351	0.65922	0.2598:0.0:0.7402:0.0	.	456;456;456;166;456	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	166;456;456;166;456;456;456;456	ENSP00000331105:T166M;ENSP00000386088:T456M;ENSP00000416048:T166M;ENSP00000385995:T456M;ENSP00000385441:T456M;ENSP00000384266:T456M;ENSP00000385469:T456M	ENSP00000331105:T166M	T	-	2	0	THADA	43655341	0.005000	0.15991	0.003000	0.11579	0.473000	0.32948	0.194000	0.17135	-0.958000	0.03622	-1.149000	0.01842	ACG		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		9	213	0	0	0	0.335167	0	9	213				
PAQR7	164091	broad.mit.edu	37	1	26189565	26189567	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:26189565_26189567delAGA	ENST00000374296.3	-	2	1430_1432	c.764_766delTCT	c.(763-768)ttctct>tct	p.F255del	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	255					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGGTAGAGAAGAAGGCAGC	0.576																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(763-768)tct>t		progestin and adipoQ receptor family member VII																																				SO:0001651	inframe_deletion	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189565_26189567delAGA		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.764_766delTCT	1.37:g.26189568_26189570delAGA	ENSP00000363414:p.Phe255del					RP1-125I3.2_ENST00000455431.1_RNA	p.FS255del	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1430_1432	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	255					A2A2D3|Q5XKF9|Q86VE4	In_Frame_Del	DEL	ENST00000374296.3	37	c.764_766delTCT	CCDS267.1																																																																																				0.576	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		18	19						18	19	---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29314068	29314068	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:29314068delA	ENST00000343067.4	+	2	246	c.119delA	c.(118-120)caafs	p.Q40fs	EPB41_ENST00000373797.1_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000398863.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373800.3_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.Q40fs	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	40					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAATCTTGTCAAACAGCAGCT	0.468																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(118-120)cafs		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							177.0	178.0	178.0					1																	29314068		2203	4300	6503	SO:0001589	frameshift_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314068delA	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.119delA	1.37:g.29314068delA	ENSP00000345259:p.Gln40fs					EPB41_ENST00000398863.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373797.1_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373800.3_5'UTR	p.Q40fs	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	246	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	40					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Frame_Shift_Del	DEL	ENST00000343067.4	37	c.119delA	CCDS53288.1																																																																																				0.468	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		106	82						106	82	---	---	---	---
TINAGL1	64129	broad.mit.edu	37	1	32050813	32050813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:32050813delC	ENST00000271064.7	+	8	995	c.919delC	c.(919-921)cccfs	p.P308fs	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.P277fs	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	308					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TGGCCCTGCGCCCCCCTGTAT	0.602																																						ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(919-921)ccfs		tubulointerstitial nephritis antigen-like 1							102.0	109.0	107.0					1																	32050813		2203	4300	6503	SO:0001589	frameshift_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050813delC	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.919delC	1.37:g.32050813delC	ENSP00000271064:p.Pro308fs					TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.P277fs|TINAGL1_ENST00000481165.1_3'UTR	p.P308fs	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	8	995	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	308					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Frame_Shift_Del	DEL	ENST00000271064.7	37	c.919delC	CCDS343.1																																																																																				0.602	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		11	116						11	116	---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46871324	46871324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:46871324delG	ENST00000243167.8	+	5	727	c.643delG	c.(643-645)gggfs	p.G216fs	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	216					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CAAAAGCCCAGGGGGCTCCTC	0.627																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(643-645)ggfs		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						68.0	82.0	77.0					1																	46871324		2202	4300	6502	SO:0001589	frameshift_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46871324delG	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.643delG	1.37:g.46871324delG	ENSP00000243167:p.Gly216fs					FAAH_ENST00000493735.1_3'UTR	p.G216fs	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			5	727	+	Acute lymphoblastic leukemia(166;0.155)		216					D3DQ19|Q52M86|Q5TDF8	Frame_Shift_Del	DEL	ENST00000243167.8	37	c.643delG	CCDS535.1																																																																																				0.627	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		70	111						70	111	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115527421	115527421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:115527421delA	ENST00000369522.3	+	30	2875	c.2635delA	c.(2635-2637)aaafs	p.K881fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K881fs|SYCP1_ENST00000477590.1_Intron	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	881					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGAAAGTAAAAAAAAGAG	0.264																																						ENST00000369522.3																		RGS22/SYCP1(2)	1	Deletion - Frameshift(1)	p.K881fs*21(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2635-2637)aafs		synaptonemal complex protein 1							57.0	65.0	62.0					1																	115527421		2201	4283	6484	SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115527421delA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2635delA	1.37:g.115527421delA	ENSP00000358535:p.Lys881fs					SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K881fs|SYCP1_ENST00000477590.1_Intron	p.K881fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	30	2875	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	881					O14963|Q5VXJ6	Frame_Shift_Del	DEL	ENST00000369522.3	37	c.2635delA	CCDS879.1																																																																																				0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		8	156						8	156	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151288484	151288484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151288484delG	ENST00000368873.1	-	2	642	c.474delC	c.(472-474)gccfs	p.A158fs	PI4KB_ENST00000368874.4_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Frame_Shift_Del_p.A170fs|PI4KB_ENST00000271657.5_Frame_Shift_Del_p.A170fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	158	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCAATGTAGGCTTGTACTC	0.488																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(508-510)gcfs		phosphatidylinositol 4-kinase, catalytic, beta							83.0	81.0	82.0					1																	151288484		2203	4300	6503	SO:0001589	frameshift_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288484delG	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.474delC	1.37:g.151288484delG	ENSP00000357867:p.Ala158fs					PI4KB_ENST00000368874.4_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Frame_Shift_Del_p.A170fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.A158fs	p.A170fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1090	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		158					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Del	DEL	ENST00000368873.1	37	c.510delC																																																																																					0.488	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		65	110						65	110	---	---	---	---
UBQLN4	56893	broad.mit.edu	37	1	156011344	156011344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:156011344delC	ENST00000368309.3	-	10	1677	c.1585delG	c.(1585-1587)gctfs	p.A529fs		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	529					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GCGCTGGAAGCCCCTGTTGGA	0.627																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1585-1587)ctfs		ubiquilin 4							48.0	48.0	48.0					1																	156011344		2203	4300	6503	SO:0001589	frameshift_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156011344delC	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1585delG	1.37:g.156011344delC	ENSP00000357292:p.Ala529fs					UBQLN4_ENST00000368307.1_Frame_Shift_Del_p.G181fs	p.A529fs	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			10	1677	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		529					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Frame_Shift_Del	DEL	ENST00000368309.3	37	c.1585delG	CCDS1127.1																																																																																				0.627	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		19	59						19	59	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)aacfs	p.N171fs	Y_RNA_ENST00000365208.1_RNA|COPA_ENST00000368069.3_Frame_Shift_Ins_p.N171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(511-513)actfs		coatomer protein complex, subunit alpha																																				SO:0001589	frameshift_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160295426_160295427insT	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.513dupA	1.37:g.160295434_160295434dupT	ENSP00000241704:p.Asn171fs					COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	741_742	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		171					Q5T201|Q8IXZ9	Frame_Shift_Ins	INS	ENST00000241704.7	37	c.512_513insA	CCDS1202.1																																																																																				0.406	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		61	223						61	223	---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161026313	161026313	+	Frame_Shift_Del	DEL	A	A	-	rs17854839		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:161026313delA	ENST00000368013.3	-	3	530	c.210delT	c.(208-210)tttfs	p.F70fs	ARHGAP30_ENST00000368016.3_Frame_Shift_Del_p.F70fs|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	70	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.		F -> L (in dbSNP:rs17854839). {ECO:0000269|PubMed:15489334}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCTCTGACTCAAATTCCTGCC	0.592																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(208-210)ttfs		Rho GTPase activating protein 30							60.0	54.0	56.0					1																	161026313		2203	4300	6503	SO:0001589	frameshift_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161026313delA	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.210delT	1.37:g.161026313delA	ENSP00000356992:p.Phe70fs					ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Frame_Shift_Del_p.F70fs	p.F70fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		3	530	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		70		F -> L (in dbSNP:rs17854839).	Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Frame_Shift_Del	DEL	ENST00000368013.3	37	c.210delT	CCDS30918.1																																																																																				0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		17	29						17	29	---	---	---	---
LOC400800	400800	broad.mit.edu	37	1	199130171	199130172	+	lincRNA	INS	-	-	G	rs145131094|rs374102697|rs56001356|rs199744059|rs201028700|rs76829449		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:199130171_199130172insG	ENST00000452199.1	+	0	140																											gaaggaaggaagaaggaaggaa	0.47																																						ENST00000452199.1																			0																																																			400800							g.chr1:199130171_199130172insG																													1.37:g.199130172_199130172dupG														0	140	+									RNA	INS	ENST00000452199.1	37																																																																																						0.470	RP11-382E9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087440.1			3	4						3	4	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																						ENST00000272203.3																			2	Deletion - Frameshift(2)	p.V328fs*172(2)	large_intestine(2)	breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(982-984)tafs		pleckstrin homology domain containing, family A member 6							43.0	47.0	46.0					1																	204228411		2203	4300	6503	SO:0001589	frameshift_variant	22874							g.chr1:204228411delC	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs					PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs	p.V328fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1298	-	all_cancers(21;0.0222)|Breast(84;0.179)		328			Pro-rich.		A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	c.982delG	CCDS1444.1																																																																																				0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		24	56						24	56	---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205238671	205238671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:205238671delC	ENST00000358024.3	+	3	1730	c.1341delC	c.(1339-1341)gacfs	p.D447fs	TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	447						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACCTGAAGGACCCCCTGGAAG	0.642																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1339-1341)gafs		transmembrane and coiled-coil domain family 2							45.0	52.0	49.0					1																	205238671		2203	4300	6503	SO:0001589	frameshift_variant	9911					integral to membrane	protein binding	g.chr1:205238671delC	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1341delC	1.37:g.205238671delC	ENSP00000350718:p.Asp447fs					TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs	p.D447fs	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1730	+	Breast(84;0.0871)		447					A2RRH3|B7Z1P7|Q6ZN09	Frame_Shift_Del	DEL	ENST00000358024.3	37	c.1341delC	CCDS30984.1																																																																																				0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		39	96						39	96	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207643042	207643043	+	Frame_Shift_Ins	INS	-	-	T	rs373313146		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:207643042_207643043insT	ENST00000367058.3	+	6	1009_1010	c.820_821insT	c.(820-822)attfs	p.I274fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Ins_p.I274fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.I274fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.I274fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	274	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCTAGAAATTTTTTGCCCA	0.416																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(820-822)tttfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643042_207643043insT	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.826dupT	1.37:g.207643048_207643048dupT	ENSP00000356025:p.Ile274fs					CR2_ENST00000367058.3_Frame_Shift_Ins_p.F274fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.F274fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.F274fs|CR2_ENST00000485707.1_3'UTR	p.F274fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1009_1010	+			274			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.820_821insT	CCDS1478.1																																																																																				0.416	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		69	136						69	136	---	---	---	---
RP11-400N13.1	0	broad.mit.edu	37	1	222435119	222435119	+	lincRNA	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:222435119delT	ENST00000416510.1	-	0	167																											CAATAATTTCTTTTTTTTTTA	0.299																																						ENST00000416510.1																			0																																																			0							g.chr1:222435119delT																													1.37:g.222435119delT														0	167	-									RNA	DEL	ENST00000416510.1	37																																																																																						0.299	RP11-400N13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000090767.1			4	5						4	5	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247007131	247007131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:247007131delT	ENST00000391829.2	-	34	6614	c.6491delA	c.(6490-6492)aacfs	p.N2164fs	AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.N2173fs|AHCTF1_ENST00000366508.1_Frame_Shift_Del_p.N2199fs|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2164	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTGGATGTGTTTTTTTGTCT	0.313																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6595-6597)acfs		AT hook containing transcription factor 1							71.0	68.0	69.0					1																	247007131		2201	4299	6500	SO:0001589	frameshift_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247007131delT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6491delA	1.37:g.247007131delT	ENSP00000375705:p.Asn2164fs					AHCTF1_ENST00000391829.2_Frame_Shift_Del_p.N2164fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.N2173fs	p.N2199fs			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		34	6732	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2164			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Del	DEL	ENST00000391829.2	37	c.6596delA																																																																																					0.313	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		19	61						19	61	---	---	---	---
OR2L5	81466	broad.mit.edu	37	1	248185773	248185774	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:248185773_248185774insT	ENST00000355281.1	+	1	524_525	c.524_525insT	c.(523-528)cattttfs	p.HF175fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1	Q8NG80	OR2L5_HUMAN	olfactory receptor, family 2, subfamily L, member 5	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GCCATCAATCATTTTTTCTGTG	0.426																																						ENST00000355281.1																			0											c.(523-525)cttfs		olfactory receptor, family 2, subfamily L, member 5																																				SO:0001589	frameshift_variant	81466							g.chr1:248185773_248185774insT		CCDS58068.1	1q44	2012-08-09		2004-03-10	ENSG00000197454	ENSG00000197454		"""GPCR / Class A : Olfactory receptors"""	15011	protein-coding gene	gene with protein product				OR2L11, OR2L5P			Standard	NM_001258284		Approved		uc031psy.1	Q8NG80	OTTHUMG00000040194	ENST00000355281.1:c.530dupT	1.37:g.248185779_248185779dupT	ENSP00000347428:p.His175fs					OR2L13_ENST00000366478.2_Intron	p.L175fs	NM_001258284.1	NP_001245213.1					1	524_525	+								Q6IF04	Frame_Shift_Ins	INS	ENST00000355281.1	37	c.524_525insT	CCDS58068.1																																																																																				0.426	OR2L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096851.1			66	209						66	209	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248738032	248738034	+	In_Frame_Del	DEL	CTG	CTG	-	rs147194614		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:248738032_248738034delCTG	ENST00000328782.2	-	1	46_48	c.25_27delCAG	c.(25-27)cagdel	p.Q9del		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTTTGATTCTGAGAAGTCTGA	0.448																																						ENST00000328782.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(25-27)del		olfactory receptor, family 2, subfamily T, member 34																																				SO:0001651	inframe_deletion	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248738032_248738034delCTG	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.25_27delCAG	1.37:g.248738032_248738034delCTG	ENSP00000330904:p.Gln9del						p.Q9del	NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	46_48	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		9					B2RNJ8|Q6IEY5|Q96R31	In_Frame_Del	DEL	ENST00000328782.2	37	c.25_27delCAG	CCDS31120.1																																																																																				0.448	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		39	95						39	95	---	---	---	---
NOL10	79954	broad.mit.edu	37	2	10729704	10729704	+	Splice_Site	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:10729704delT	ENST00000381685.5	-	18	1701	c.1596delA	c.(1594-1596)aaa>aa	p.K532fs	NOL10_ENST00000542668.1_Splice_Site_p.K482fs|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000345985.3_Splice_Site_p.K482fs|NOL10_ENST00000538384.1_Splice_Site_p.K506fs	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	532						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		AGTACATTACTTTTTCACGAA	0.299																																						ENST00000345985.3																			0											c.e17+1		nucleolar protein 10							97.0	95.0	95.0					2																	10729704		2202	4296	6498	SO:0001630	splice_region_variant	79954					nucleolus		g.chr2:10729704delT	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1596+1A>-	2.37:g.10729704delT						NOL10_ENST00000542668.1_Splice_Site_p.K482_splice|NOL10_ENST00000381685.5_Splice_Site_p.K532_splice|NOL10_ENST00000538384.1_Splice_Site_p.K506_splice|AC092687.5_ENST00000414538.1_RNA	p.K482_splice	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	17	1556	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		532					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Splice_Site	DEL	ENST00000381685.5	37	c.1446_splice	CCDS1673.2																																																																																				0.299	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894	Frame_Shift_Del	17	49						17	49	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24042679	24042682	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:24042679_24042682delTGAG	ENST00000238789.5	-	17	2545_2548	c.2202_2205delCTCA	c.(2200-2205)cactcafs	p.HS734fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	734						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGTGATCCTGAGTGACAATTGG	0.314																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2200-2205)cafs		ATPase family, AAA domain containing 2B																																				SO:0001589	frameshift_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24042679_24042682delTGAG	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2202_2205delCTCA	2.37:g.24042679_24042682delTGAG	ENSP00000238789:p.His734fs					ATAD2B_ENST00000474583.1_5'UTR	p.HS734fs	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			17	2545_2548	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		734					B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Del	DEL	ENST00000238789.5	37	c.2202_2205delCTCA	CCDS46227.1																																																																																				0.314	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		21	65						21	65	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48050443	48050443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:48050443delT	ENST00000403359.3	-	12	1527	c.1455delA	c.(1453-1455)aaafs	p.K485fs	FBXO11_ENST00000402508.1_Frame_Shift_Del_p.K401fs|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000316377.4_Frame_Shift_Del_p.K401fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	485					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGCATAGGCTTTTACTTCAA	0.368			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1453-1455)aafs		F-box protein 11							94.0	89.0	90.0					2																	48050443		2203	4300	6503	SO:0001589	frameshift_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48050443delT	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1455delA	2.37:g.48050443delT	ENSP00000384823:p.Lys485fs					FBXO11_ENST00000316377.4_Frame_Shift_Del_p.K401fs|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.K401fs|FBXO11_ENST00000434523.2_5'UTR	p.K485fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		12	1527	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	485					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Del	DEL	ENST00000403359.3	37	c.1455delA	CCDS54357.1																																																																																				0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		30	71						30	71	---	---	---	---
EXOC6B	23233	broad.mit.edu	37	2	72725651	72725651	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:72725651delA	ENST00000272427.6	-	13	1399	c.1269delT	c.(1267-1269)tttfs	p.F423fs	EXOC6B_ENST00000410104.1_Frame_Shift_Del_p.F423fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	423					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						ACAGCATGTCAAAAAGCTGAT	0.338																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1267-1269)ttfs		exocyst complex component 6B							87.0	77.0	80.0					2																	72725651		1819	4092	5911	SO:0001589	frameshift_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72725651delA	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1269delT	2.37:g.72725651delA	ENSP00000272427:p.Phe423fs					EXOC6B_ENST00000410104.1_Frame_Shift_Del_p.F423fs	p.F423fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			13	1399	-			423					B8ZZY3	Frame_Shift_Del	DEL	ENST00000272427.6	37	c.1269delT	CCDS46333.1																																																																																				0.338	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		24	45						24	45	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	214012391	214012392	+	Intron	INS	-	-	AC	rs372594237		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:214012391_214012392insAC	ENST00000434687.1	-	4	449				IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000442445.1_Frame_Shift_Ins_p.V66fs|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000457361.1_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTGCTGGAGAGACACACACACA	0.401																																						ENST00000442445.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(196-198)gtcfs		IKAROS family zinc finger 2 (Helios)																																				SO:0001627	intron_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:214012391_214012392insAC	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.139+39->GT	2.37:g.214012400_214012401dupAC						IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Intron	p.V66fs			Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	3	254_255	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	0					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Ins	INS	ENST00000434687.1	37	c.197_198insGT	CCDS2395.1																																																																																				0.401	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		43	213						43	213	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		287	607						287	607	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219900111	219900111	+	Intron	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:219900111delT	ENST00000341552.5	-	5	626				CCDC108_ENST00000295729.2_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000324264.6_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTAAAGgttttttttgtt	0.378																																						ENST00000295729.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(436-438)aafs		coiled-coil domain containing 108							44.0	47.0	46.0					2																	219900111		2203	4298	6501	SO:0001627	intron_variant	255101					integral to membrane	structural molecule activity	g.chr2:219900111delT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+90A>-	2.37:g.219900111delT						CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000324264.6_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000409865.3_Intron	p.K146fs	NM_152389.2	NP_689602.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	561	-		Renal(207;0.0915)	0					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.438delA	CCDS2430.2																																																																																				0.378	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		17	26						17	26	---	---	---	---
RTP5	285093	broad.mit.edu	37	2	242814374	242814375	+	Frame_Shift_Ins	INS	-	-	C	rs35989328		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:242814374_242814375insC	ENST00000343216.3	+	2	695_696	c.667_668insC	c.(667-669)gccfs	p.A223fs		NM_173821.2	NP_776182.2																					TGAGGGCCCTGCCCCCCCTGCG	0.658																																						ENST00000343216.3																			0											c.(667-669)cccfs		CXXC finger protein 11																																				SO:0001589	frameshift_variant	285093					integral to membrane		g.chr2:242814374_242814375insC																												ENST00000343216.3:c.674dupC	2.37:g.242814381_242814381dupC	ENSP00000345374:p.Ala223fs						p.P223fs	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	695_696	+			223						Frame_Shift_Ins	INS	ENST00000343216.3	37	c.667_668insC	CCDS42843.1																																																																																				0.658	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			14	58						14	58	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070364	37070365	+	Frame_Shift_Ins	INS	-	-	CATTAACCTCA	rs63751146|rs587778920		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:37070364_37070365insCATTAACCTCA	ENST00000231790.2	+	13	1715_1716	c.1499_1500insCATTAACCTCA	c.(1498-1503)atcattfs	p.-504fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.-406fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.-263fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.-263fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.-263fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.-263fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CGGAGAAGGATCATTAACCTCA	0.485		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CD023714	MLH1	D		c.(1498-1500)aatfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070364_37070365insCATTAACCTCA	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1500_1510dupCATTAACCTCA	3.37:g.37070365_37070375dupCATTAACCTCA	ENSP00000231790:p.Thr504fs					MLH1_ENST00000536378.1_Frame_Shift_Ins_p.N259fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.N259fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.N402fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.N259fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.N259fs	p.N500fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			13	1715_1716	+			500			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1499_1500insCATTAACCTCA	CCDS2663.1																																																																																				0.485	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		33	246						33	246	---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37125271	37125271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:37125271delT	ENST00000336686.4	-	19	1214	c.1134delA	c.(1132-1134)aaafs	p.K378fs	LRRFIP2_ENST00000354379.4_Frame_Shift_Del_p.K122fs|LRRFIP2_ENST00000421307.1_Frame_Shift_Del_p.K378fs|LRRFIP2_ENST00000440230.1_Frame_Shift_Del_p.K146fs|LRRFIP2_ENST00000396428.2_Frame_Shift_Del_p.K194fs|LRRFIP2_ENST00000421276.2_Frame_Shift_Del_p.K146fs			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	378					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTTTCTTGTATTTTTCTTCCA	0.338																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1132-1134)aafs		leucine rich repeat (in FLII) interacting protein 2							150.0	141.0	144.0					3																	37125271		2203	4300	6503	SO:0001589	frameshift_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37125271delT	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1134delA	3.37:g.37125271delT	ENSP00000338727:p.Lys378fs					LRRFIP2_ENST00000336686.4_Frame_Shift_Del_p.K378fs|LRRFIP2_ENST00000440230.1_Frame_Shift_Del_p.K146fs|LRRFIP2_ENST00000396428.2_Frame_Shift_Del_p.K194fs|LRRFIP2_ENST00000421276.2_Frame_Shift_Del_p.K146fs|LRRFIP2_ENST00000354379.4_Frame_Shift_Del_p.K122fs	p.K378fs	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			20	1556	-			378					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Frame_Shift_Del	DEL	ENST00000336686.4	37	c.1134delA	CCDS2664.1																																																																																				0.338	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		69	71						69	71	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38949441	38949441	+	Splice_Site	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:38949441delT	ENST00000302328.3	-	10	1670	c.1472delA	c.(1471-1473)aag>ag	p.K491fs	SCN11A_ENST00000450244.1_Splice_Site_p.K491fs|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Splice_Site_p.K491fs|SCN11A_ENST00000444237.2_Splice_Site_p.K491fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	491					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGACTTACCTTTTTTTGGCA	0.388																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.e10+1		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						67.0	71.0	70.0					3																	38949441		2203	4300	6503	SO:0001630	splice_region_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38949441delT	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1473+1A>-	3.37:g.38949441delT						SCN11A_ENST00000456224.3_Splice_Site_p.K491_splice|SCN11A_ENST00000444237.2_Splice_Site_p.K491_splice|SCN11A_ENST00000302328.3_Splice_Site_p.K491_splice	p.K491_splice			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	10	1670	-			491					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Splice_Site	DEL	ENST00000302328.3	37	c.1473_splice	CCDS33737.1																																																																																				0.388	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Frame_Shift_Del	75	73						75	73	---	---	---	---
ZNF619	285267	broad.mit.edu	37	3	40524165	40524165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:40524165delG	ENST00000314686.5	+	4	572	c.167delG	c.(166-168)tggfs	p.W56fs	ZNF619_ENST00000456778.1_Frame_Shift_Del_p.G46fs|ZNF619_ENST00000522736.1_Frame_Shift_Del_p.W56fs|ZNF619_ENST00000429348.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000432264.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000447116.2_Frame_Shift_Del_p.G130fs|ZNF619_ENST00000521353.1_Frame_Shift_Del_p.G130fs|ZNF619_ENST00000520737.1_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACACTTGCTGGGGGAGAGGC	0.522																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(385-387)ggfs		zinc finger protein 619							91.0	91.0	91.0					3																	40524165		2203	4300	6503	SO:0001589	frameshift_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40524165delG	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.167delG	3.37:g.40524165delG	ENSP00000322529:p.Trp56fs					ZNF619_ENST00000456778.1_Frame_Shift_Del_p.G46fs|ZNF619_ENST00000432264.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000522736.1_Frame_Shift_Del_p.W56fs|ZNF619_ENST00000521353.1_Frame_Shift_Del_p.G130fs|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000314686.5_Frame_Shift_Del_p.W56fs	p.G130fs	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	5	692	+			130					B4E271|C9JRN5|D4PHA2|E9PCD9	Frame_Shift_Del	DEL	ENST00000314686.5	37	c.385delG																																																																																					0.522	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		60	64						60	64	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69088741	69088741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:69088741delT	ENST00000398559.2	-	6	2004	c.1788delA	c.(1786-1788)aaafs	p.K596fs	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Frame_Shift_Del_p.K599fs|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	596					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GCTCTTTAACTTTTTTGTTCA	0.328																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1795-1797)aafs		TATA element modulatory factor 1							175.0	159.0	164.0					3																	69088741		1836	4096	5932	SO:0001589	frameshift_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088741delT		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1788delA	3.37:g.69088741delT	ENSP00000381567:p.Lys596fs					CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.K596fs|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA	p.K599fs	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	6	2043	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	596					B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	37	c.1797delA	CCDS43105.1																																																																																				0.328	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		64	97						64	97	---	---	---	---
AMOTL2	51421	broad.mit.edu	37	3	134086562	134086562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:134086562delG	ENST00000422605.2	-	3	984	c.818delC	c.(817-819)cctfs	p.P275fs	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000249883.5_Frame_Shift_Del_p.P275fs|AMOTL2_ENST00000514516.1_Frame_Shift_Del_p.P333fs|AMOTL2_ENST00000513145.1_Frame_Shift_Del_p.P275fs			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	275					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						ATGTGGGGGAGGGGGGTGCTC	0.647																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(991-993)ctfs		angiomotin like 2							26.0	28.0	27.0					3																	134086562		2203	4300	6503	SO:0001589	frameshift_variant	51421							g.chr3:134086562delG	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.818delC	3.37:g.134086562delG	ENSP00000409999:p.Pro275fs					AMOTL2_ENST00000513145.1_Frame_Shift_Del_p.P275fs|AMOTL2_ENST00000249883.5_Frame_Shift_Del_p.P275fs|AMOTL2_ENST00000422605.2_Frame_Shift_Del_p.P275fs	p.P333fs	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			3	1170	-			275					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Frame_Shift_Del	DEL	ENST00000422605.2	37	c.992delC																																																																																					0.647	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		7	40						7	40	---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138187722	138187725	+	Splice_Site	DEL	GAGT	GAGT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:138187722_138187725delGAGT	ENST00000389567.4	+	14	1619_1620	c.1433_1434delGAGT	c.(1432-1434)aga>a	p.R478fs		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	478	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGGTTTGCCAGAGTGAGTGAGTAT	0.495																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.e14+1		extended synaptotagmin-like protein 3																																				SO:0001630	splice_region_variant	83850					integral to membrane|plasma membrane		g.chr3:138187722_138187725delGAGT	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1434+1GAGT>-	3.37:g.138187730_138187733delGAGT							p.478_splice	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			14	1619_1620	+			478			C2 2.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	DEL	ENST00000389567.4	37	c.1434_splice	CCDS3101.2																																																																																				0.495	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	Frame_Shift_Del	100	324						100	324	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000539949.1_5'UTR	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		11	231						11	231	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G	rs541695993	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cccfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512_2513	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		7	92						7	92	---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195969503	195969503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:195969503delA	ENST00000292823.2	-	7	667	c.495delT	c.(493-495)tttfs	p.F165fs	PCYT1A_ENST00000419333.1_Frame_Shift_Del_p.F165fs|PCYT1A_ENST00000431016.1_Frame_Shift_Del_p.F165fs	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	165					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CATGGGCTACAAAATCAATCT	0.423																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(493-495)ttfs		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						99.0	92.0	94.0					3																	195969503		2203	4300	6503	SO:0001589	frameshift_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195969503delA	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.495delT	3.37:g.195969503delA	ENSP00000292823:p.Phe165fs					PCYT1A_ENST00000419333.1_Frame_Shift_Del_p.F165fs|PCYT1A_ENST00000431016.1_Frame_Shift_Del_p.F165fs	p.F165fs	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	7	667	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		165			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Frame_Shift_Del	DEL	ENST00000292823.2	37	c.495delT	CCDS3315.1																																																																																				0.423	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		63	206						63	206	---	---	---	---
IGFBP7	3490	broad.mit.edu	37	4	57898593	57898593	+	Splice_Site	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:57898593delT	ENST00000295666.4	-	4	861	c.828delA	c.(826-828)aaa>aa	p.K276fs	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Del_p.K276fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	276				PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATTGTGTACCTTTTTTCACTG	0.363																																						ENST00000537922.1																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(826-828)aafs		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						140.0	130.0	134.0					4																	57898593		2203	4300	6503	SO:0001630	splice_region_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57898593delT	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.829+1A>-	4.37:g.57898593delT						IGFBP7_ENST00000295666.4_Splice_Site_p.K276_splice|IGFBP7_ENST00000512512.1_5'UTR	p.K276fs	NM_001253835.1	NP_001240764.1	Q16270	IBP7_HUMAN			4	861	-	Glioma(25;0.08)|all_neural(26;0.181)		276	PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187).				B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Frame_Shift_Del	DEL	ENST00000295666.4	37	c.828delA	CCDS3512.1																																																																																				0.363	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1		Frame_Shift_Del	55	45						55	45	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924487	188924487	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:188924487delC	ENST00000326866.4	+	4	934	c.526delC	c.(526-528)cccfs	p.P177fs	ZFP42_ENST00000509524.1_Frame_Shift_Del_p.P177fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	177					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAAAGAAGCCCCCCATAAA	0.468																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(526-528)ccfs		ZFP42 zinc finger protein							97.0	109.0	105.0					4																	188924487		2203	4300	6503	SO:0001589	frameshift_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924487delC	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.526delC	4.37:g.188924487delC	ENSP00000317686:p.Pro177fs					ZFP42_ENST00000509524.1_Frame_Shift_Del_p.P177fs	p.P177fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	934	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	177					D3DP65|Q8WXE2	Frame_Shift_Del	DEL	ENST00000326866.4	37	c.526delC	CCDS3849.1																																																																																				0.468	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		25	230						25	230	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488218	24488219	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:24488218_24488219insT	ENST00000264463.4	-	12	2427_2428	c.1920_1921insA	c.(1918-1923)aaagagfs	p.E641fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	641					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGCT	0.406										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1918-1923)aaagccfs		cadherin 10, type 2 (T2-cadherin)																																				SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488218_24488219insT	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1921dupA	5.37:g.24488225_24488225dupT	ENSP00000264463:p.Glu641fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A641fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2427_2428	-			641					Q9ULB3	Frame_Shift_Ins	INS	ENST00000264463.4	37	c.1920_1921insA	CCDS3892.1																																																																																				0.406	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		44	138						44	138	---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77334907	77334907	+	Frame_Shift_Del	DEL	T	T	-	rs201179527	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:77334907delT	ENST00000255194.6	-	23	2944	c.2769delA	c.(2767-2769)aaafs	p.K923fs	AP3B1_ENST00000519295.1_Frame_Shift_Del_p.K874fs|AP3B1_ENST00000523204.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	923					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.K923fs*4(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTATAGGAAGTTTTTTTTCCC	0.289									Hermansky-Pudlak syndrome																													ENST00000255194.6																			1	Deletion - Frameshift(1)	p.K923fs*4(1)	large_intestine(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(2767-2769)aafs		adaptor-related protein complex 3, beta 1 subunit							103.0	98.0	100.0					5																	77334907		2203	4299	6502	SO:0001589	frameshift_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77334907delT	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2769delA	5.37:g.77334907delT	ENSP00000255194:p.Lys923fs					AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Del_p.K874fs	p.K923fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	23	2944	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	923					E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	ENST00000255194.6	37	c.2769delA	CCDS4041.1																																																																																				0.289	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			52	106						52	106	---	---	---	---
APC	324	broad.mit.edu	37	5	112176344	112176345	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:112176344_112176345insA	ENST00000457016.1	+	16	5433_5434	c.5053_5054insA	c.(5053-5055)gaafs	p.E1685fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.E1685fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1685fs			P25054	APC_HUMAN	adenomatous polyposis coli	1685	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGTGAATTTGAAAAACGAGAT	0.436		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(5053-5055)aaafs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176344_112176345insA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5058dupA	5.37:g.112176349_112176349dupA	ENSP00000413133:p.Glu1685fs	TSP Lung(16;0.13)				APC_ENST00000508376.2_Frame_Shift_Ins_p.K1685fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1685fs|CTC-554D6.1_ENST00000520401.1_Intron	p.K1685fs			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5433_5434	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1685			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	c.5053_5054insA	CCDS4107.1																																																																																				0.436	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		27	60						27	60	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187789	121187789	+	Frame_Shift_Del	DEL	C	C	-	rs540007588	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:121187789delC	ENST00000321339.1	+	1	140	c.131delC	c.(130-132)gccfs	p.A44fs		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	44					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGGCAGATCGCCCCCCGCCGC	0.776																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(130-132)gcfs		ferritin mitochondrial							5.0	7.0	6.0					5																	121187789		1867	3737	5604	SO:0001589	frameshift_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187789delC	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.131delC	5.37:g.121187789delC	ENSP00000313691:p.Ala44fs						p.A44fs	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	140	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	44						Frame_Shift_Del	DEL	ENST00000321339.1	37	c.131delC	CCDS4128.1																																																																																				0.776	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		5	6						5	6	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131066705	131066706	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:131066705_131066706delTT	ENST00000510461.1	-	3	340_341	c.245_246delAA	c.(244-246)aaafs	p.K82fs	FNIP1_ENST00000511848.1_Frame_Shift_Del_p.K82fs|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Frame_Shift_Del_p.K82fs|FNIP1_ENST00000307954.8_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	82					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCCCAAAGACTTTAACTTGAGC	0.347																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(244-246)afs		folliculin interacting protein 1																																				SO:0001589	frameshift_variant	96459							g.chr5:131066705_131066706delTT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.245_246delAA	5.37:g.131066705_131066706delTT	ENSP00000421985:p.Lys82fs					FNIP1_ENST00000511848.1_Frame_Shift_Del_p.K82fs|FNIP1_ENST00000510461.1_Frame_Shift_Del_p.K82fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Intron	p.K82fs	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	3	244_245	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Del	DEL	ENST00000510461.1	37	c.245_246delAA	CCDS34227.1																																																																																				0.347	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		67	133						67	133	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131663087	131663087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:131663087delT	ENST00000200652.3	+	5	1116	c.942delT	c.(940-942)gatfs	p.D314fs	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	314					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TGATATTTGATTCTGTGGAGG	0.378																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(940-942)gafs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						82.0	81.0	81.0					5																	131663087		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131663087delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.942delT	5.37:g.131663087delT	ENSP00000200652:p.Asp314fs					AC034220.3_ENST00000417795.1_RNA	p.D314fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1116	+		all_cancers(142;0.0752)|Breast(839;0.198)	314					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.942delT	CCDS4153.1																																																																																				0.378	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		39	109						39	109	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132534947	132534947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:132534947delC	ENST00000265342.7	-	16	2618	c.2369delG	c.(2368-2370)ggtfs	p.G790fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	790						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGTGGGTACCCCCCCAGGG	0.597																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2368-2370)gtfs		follistatin-like 4																																				SO:0001589	frameshift_variant	23105					extracellular region	calcium ion binding	g.chr5:132534947delC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2369delG	5.37:g.132534947delC	ENSP00000265342:p.Gly790fs					CTB-49A3.2_ENST00000509051.1_RNA	p.G790fs	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2618	-		all_cancers(142;0.244)	790					Q8TBU0|Q9UPU1	Frame_Shift_Del	DEL	ENST00000265342.7	37	c.2369delG	CCDS34238.1																																																																																				0.597	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		11	43						11	43	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139889312	139889312	+	Frame_Shift_Del	DEL	C	C	-	rs200829092	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:139889312delC	ENST00000360839.2	+	21	4010	c.3856delC	c.(3856-3858)cccfs	p.P1287fs	ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.P1287fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.P1287fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1287						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAATGCTCCCCCTGTGCC	0.438																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(3856-3858)ccfs		ankyrin repeat and KH domain containing 1							103.0	94.0	97.0					5																	139889312		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139889312delC	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3856delC	5.37:g.139889312delC	ENSP00000354085:p.Pro1287fs					ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.P1287fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.P1287fs	p.P1287fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	3980	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.3856delC	CCDS4225.1																																																																																				0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		17	120						17	120	---	---	---	---
MBOAT1	154141	broad.mit.edu	37	6	20151474	20151475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:20151474_20151475insA	ENST00000324607.7	-	3	428_429	c.264_265insT	c.(262-267)tttgtgfs	p.V89fs	MBOAT1_ENST00000536798.1_Frame_Shift_Ins_p.V89fs|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	89					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AACACCAGCACAAAAAGATGCA	0.371																																						ENST00000324607.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(262-267)tttgctfs		membrane bound O-acyltransferase domain containing 1																																				SO:0001589	frameshift_variant	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20151474_20151475insA	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.265dupT	6.37:g.20151479_20151479dupA	ENSP00000324944:p.Val89fs					MBOAT1_ENST00000536798.1_Frame_Shift_Ins_p.A89fs|MBOAT1_ENST00000541730.1_5'UTR	p.A89fs	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		3	428_429	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		89					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Frame_Shift_Ins	INS	ENST00000324607.7	37	c.264_265insT	CCDS34346.1																																																																																				0.371	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			67	195						67	195	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	21231246	21231246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:21231246delT	ENST00000378610.1	+	14	1726	c.1716delT	c.(1714-1716)gctfs	p.A572fs	CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Frame_Shift_Del_p.A481fs|CDKAL1_ENST00000274695.4_Frame_Shift_Del_p.A572fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	572					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTCTTTTTGCTTTTTTTGTCA	0.413																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(1714-1716)gcfs		CDK5 regulatory subunit associated protein 1-like 1							114.0	116.0	115.0					6																	21231246		2203	4300	6503	SO:0001589	frameshift_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21231246delT	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1716delT	6.37:g.21231246delT	ENSP00000367873:p.Ala572fs					CDKAL1_ENST00000378610.1_Frame_Shift_Del_p.A572fs|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Frame_Shift_Del_p.A481fs	p.A572fs	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		16	1883	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		572					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Frame_Shift_Del	DEL	ENST00000378610.1	37	c.1716delT	CCDS4546.1																																																																																				0.413	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		25	180						25	180	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2158-2163)cca>cc		protein phosphatase 1, regulatory subunit 10				21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570264_30570266delGGA	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del						p.PP720del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2712_2714	-			720			Gly-rich.		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.2160_2162delTCC	CCDS4681.1																																																																																				0.670	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		9	55						9	55	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53519514	53519514	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:53519514delT	ENST00000407079.1	-	1	556	c.557delA	c.(556-558)aatfs	p.N186fs	KLHL31_ENST00000370905.3_Frame_Shift_Del_p.N186fs			Q9H511	KLH31_HUMAN	kelch-like family member 31	186	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCTTTTGCATTTTTTAGGGA	0.343																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(556-558)atfs		kelch-like family member 31							76.0	80.0	79.0					6																	53519514		2203	4299	6502	SO:0001589	frameshift_variant	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519514delT		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.557delA	6.37:g.53519514delT	ENSP00000384644:p.Asn186fs					KLHL31_ENST00000407079.1_Frame_Shift_Del_p.N186fs	p.N186fs	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	697	-	Lung NSC(77;0.0158)		186			BACK.		A6N9J2|B2RP49	Frame_Shift_Del	DEL	ENST00000407079.1	37	c.557delA	CCDS34478.1																																																																																				0.343	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		69	123						69	123	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64395266	64395267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:64395266_64395267insA	ENST00000262043.3	+	4	1983_1984	c.1643_1644insA	c.(1642-1647)agaaaafs	p.RK548fs	PHF3_ENST00000509330.1_Frame_Shift_Ins_p.RK548fs|PHF3_ENST00000393387.1_Frame_Shift_Ins_p.RK548fs			Q92576	PHF3_HUMAN	PHD finger protein 3	548					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCAAAGTCAGAAAAAAACAAA	0.337																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1642-1644)aaafs		PHD finger protein 3																																				SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395266_64395267insA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1650dupA	6.37:g.64395273_64395273dupA	ENSP00000262043:p.Arg548fs					PHF3_ENST00000509330.1_Frame_Shift_Ins_p.K548fs|PHF3_ENST00000393387.1_Frame_Shift_Ins_p.K548fs	p.K548fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1983_1984	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		548					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Ins	INS	ENST00000262043.3	37	c.1643_1644insA	CCDS4966.1																																																																																				0.337	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	76						32	76	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		68	152						68	152	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129937433	129937434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:129937433_129937434insA	ENST00000368149.2	-	7	1055_1056	c.967_968insT	c.(967-969)tgcfs	p.C323fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CAATGGAACGCAAAAAAGACCA	0.337																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(967-969)cgtfs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129937433_129937434insA	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.968dupT	6.37:g.129937439_129937439dupA	ENSP00000357131:p.Cys323fs						p.R323fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	7	1055_1056	-			323						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.967_968insT	CCDS34535.1																																																																																				0.337	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		18	78						18	78	---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158532468	158532468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:158532468delT	ENST00000367104.3	-	17	2026	c.1895delA	c.(1894-1896)aagfs	p.K632fs	SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	632					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAAAGCATCCTTTTTCTTTGG	0.338																																						ENST00000367104.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1894-1896)agfs		serine active site containing 1							112.0	104.0	107.0					6																	158532468		2203	4300	6503	SO:0001589	frameshift_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158532468delT	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1895delA	6.37:g.158532468delT	ENSP00000356071:p.Lys632fs					SERAC1_ENST00000367102.2_3'UTR	p.K632fs	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	17	2026	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	632					Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	ENST00000367104.3	37	c.1895delA	CCDS5255.1																																																																																				0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		45	81						45	81	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158923024	158923024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:158923024delC	ENST00000367097.3	+	13	3686	c.2329delC	c.(2329-2331)cccfs	p.P779fs	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	779					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTCCCTGCCTCCCCCGCCGCA	0.632																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2329-2331)ccfs		tubby like protein 4							97.0	98.0	98.0					6																	158923024		2203	4300	6503	SO:0001589	frameshift_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923024delC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2329delC	6.37:g.158923024delC	ENSP00000356064:p.Pro779fs					TULP4_ENST00000367094.2_Intron	p.P779fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3686	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	779					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL	ENST00000367097.3	37	c.2329delC	CCDS34561.1																																																																																				0.632	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		21	147						21	147	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676288	11676291	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs367628265		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:11676288_11676291delTCTT	ENST00000423059.4	-	2	739_742	c.488_491delAAGA	c.(487-492)aaagacfs	p.KD165fs	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	165					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AATGTCTTTGTCTTTCTGGATGCA	0.49										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(487-492)acfs		thrombospondin, type I, domain containing 7A																																				SO:0001589	frameshift_variant	221981					integral to membrane		g.chr7:11676288_11676291delTCTT		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.488_491delAAGA	7.37:g.11676288_11676291delTCTT	ENSP00000406482:p.Lys165fs	HNSCC(18;0.044)				THSD7A_ENST00000480061.1_5'UTR	p.KD165fs	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	739_742	-			165						Frame_Shift_Del	DEL	ENST00000423059.4	37	c.488_491delAAGA	CCDS47543.1																																																																																				0.490	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		31	77						31	77	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			643253							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		17	18						17	18	---	---	---	---
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488																																						ENST00000442578.1																			0																																																			0							g.chr7:65888988delT																													7.37:g.65888988delT														0	826	-									RNA	DEL	ENST00000442578.1	37																																																																																						0.488	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1			4	3						4	3	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			729156							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		4	2						4	2	---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73246063	73246063	+	Frame_Shift_Del	DEL	G	G	-	rs200226062		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:73246063delG	ENST00000435050.1	+	2	3212	c.532delG	c.(532-534)gggfs	p.G179fs	CLDN4_ENST00000431918.1_Frame_Shift_Del_p.G179fs|CLDN4_ENST00000340958.2_Frame_Shift_Del_p.G179fs			O14493	CLD4_HUMAN	claudin 4	179					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCTCCTTGGCGGGGGGCTGCT	0.642																																						ENST00000435050.1																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(532-534)ggfs		claudin 4							39.0	42.0	41.0					7																	73246063		2203	4300	6503	SO:0001589	frameshift_variant	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73246063delG	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.532delG	7.37:g.73246063delG	ENSP00000409544:p.Gly179fs					CLDN4_ENST00000431918.1_Frame_Shift_Del_p.G179fs|CLDN4_ENST00000340958.2_Frame_Shift_Del_p.G179fs	p.G179fs			O14493	CLD4_HUMAN			2	3212	+		Lung NSC(55;0.159)	179						Frame_Shift_Del	DEL	ENST00000435050.1	37	c.532delG	CCDS5560.1																																																																																				0.642	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		17	62						17	62	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269891	88269892	+	RNA	DEL	TT	TT	-	rs200675201		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:88269891_88269892delTT	ENST00000390184.1	+	0	57_58																											GAAGGAGCACTTTTTTTTTTTT	0.317																																						ENST00000390184.1																			0																																																			0							g.chr7:88269891_88269892delTT																													7.37:g.88269901_88269902delTT														0	57_58	+									RNA	DEL	ENST00000390184.1	37																																																																																						0.317	AC006988.1-201	NOVEL	basic	miRNA	miRNA				3	4						3	4	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99581178	99581179	+	RNA	INS	-	-	C	rs560590369		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:99581178_99581179insC	ENST00000425474.1	+	0	499_500					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		TCCGCATCCCACCCCCCCCACA	0.579																																						ENST00000425474.1																			0																																																			646282							g.chr7:99581178_99581179insC	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99581186_99581186dupC								NR_036679.1						0	499_500	+									RNA	INS	ENST00000425474.1	37																																																																																						0.579	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			2	4						2	4	---	---	---	---
CNPY4	245812	broad.mit.edu	37	7	99717401	99717402	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:99717401_99717402insT	ENST00000262932.3	+	1	166_167	c.34_35insT	c.(34-36)cttfs	p.L12fs	TAF6_ENST00000418432.2_5'Flank|TAF6_ENST00000437822.2_5'UTR|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000452041.1_5'Flank|TAF6_ENST00000453269.2_5'Flank|TAF6_ENST00000344095.4_5'Flank|TAF6_ENST00000497233.1_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	12						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTGCTTTTCCTTTTTTTGGCC	0.525																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(34-36)tttfs		canopy FGF signaling regulator 4																																				SO:0001589	frameshift_variant	245812					extracellular region		g.chr7:99717401_99717402insT	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.41dupT	7.37:g.99717408_99717408dupT	ENSP00000262932:p.Leu12fs					RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'UTR	p.F12fs	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			1	166_167	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		12					Q8WUN9	Frame_Shift_Ins	INS	ENST00000262932.3	37	c.34_35insT	CCDS34701.1																																																																																				0.525	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		25	84						25	84	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100482088	100482090	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:100482088_100482090delAAG	ENST00000347433.4	+	7	1015_1017	c.857_859delAAG	c.(856-861)aaagaa>aaa	p.E288del	SRRT_ENST00000388793.4_In_Frame_Del_p.E288del|SRRT_ENST00000457580.2_In_Frame_Del_p.E288del|SRRT_ENST00000432932.1_In_Frame_Del_p.E288del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	288	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCAGCAAGAAAGAAGAAGGACG	0.596																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(856-861)aaa>a		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482088_100482090delAAG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.857_859delAAG	7.37:g.100482094_100482096delAAG	ENSP00000314491:p.Glu288del					SRRT_ENST00000457580.2_In_Frame_Del_p.KE286del|SRRT_ENST00000432932.1_In_Frame_Del_p.KE286del|SRRT_ENST00000347433.4_In_Frame_Del_p.KE286del	p.KE286del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			7	1077_1079	+			286			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.857_859delAAG	CCDS34709.1																																																																																				0.596	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		15	26						15	26	---	---	---	---
OR2A7	401427	broad.mit.edu	37	7	143956190	143956190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:143956190delA	ENST00000493325.1	-	1	625	c.532delT	c.(532-534)tgtfs	p.C178fs	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AAGATTTCACAAAAAAAGTGA	0.458																																						ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(532-534)gtfs		olfactory receptor, family 2, subfamily A, member 7							12.0	14.0	13.0					7																	143956190		1892	4005	5897	SO:0001589	frameshift_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956190delA		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.532delT	7.37:g.143956190delA	ENSP00000420502:p.Cys178fs					RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA	p.C178fs	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	625	-	Melanoma(164;0.14)		178					B2RN57|Q6IFP4	Frame_Shift_Del	DEL	ENST00000493325.1	37	c.532delT	CCDS55177.1																																																																																				0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			7	50						7	50	---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12592895	12592900	+	In_Frame_Del	DEL	GGCTCA	GGCTCA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:12592895_12592900delGGCTCA	ENST00000398246.3	-	7	1530_1535	c.1461_1466delTGAGCC	c.(1459-1467)tttgagcca>tta	p.487_489FEP>L	LONRF1_ENST00000533751.1_In_Frame_Del_p.130_132FEP>L|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	487							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGTTGTTACTGGCTCAAAAAACAACC	0.359																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1459-1467)tta>tt		LON peptidase N-terminal domain and ring finger 1																																				SO:0001651	inframe_deletion	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12592895_12592900delGGCTCA	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1461_1466delTGAGCC	8.37:g.12592895_12592900delGGCTCA	ENSP00000381298:p.Phe487_Pro489delinsLeu					LONRF1_ENST00000533751.1_In_Frame_Del_p.FEP130del	p.FEP487del	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	7	1530_1535	-			487					B4DM29|B4DU84|Q8TEA0|Q9BSV1	In_Frame_Del	DEL	ENST00000398246.3	37	c.1461_1466delTGAGCC	CCDS5987.2																																																																																				0.359	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		13	19						13	19	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87242135	87242135	+	Frame_Shift_Del	DEL	A	A	-	rs185522605		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:87242135delA	ENST00000297524.3	-	1	475	c.372delT	c.(370-372)tttfs	p.F124fs	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.F124fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	124						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.S126fs*20(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGCAGCTGGGAAAAAAAGGCT	0.488																																						ENST00000297524.3																			1	Deletion - Frameshift(1)	p.S126fs*20(1)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(370-372)ttfs		solute carrier family 7 (anionic amino acid transporter), member 13							68.0	67.0	67.0					8																	87242135		2203	4300	6503	SO:0001589	frameshift_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242135delA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.372delT	8.37:g.87242135delA	ENSP00000297524:p.Phe124fs					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.F124fs	p.F124fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	475	-			124					Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL	ENST00000297524.3	37	c.372delT	CCDS34917.1																																																																																				0.488	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		7	101						7	101	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105367351	105367351	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:105367351delA	ENST00000297581.2	+	3	1325	c.1276delA	c.(1276-1278)aaafs	p.K427fs	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	427					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAAGCTGCTTAAAAAAAGATC	0.458																																						ENST00000297581.2																			0											c.(1276-1278)aafs		dendrocyte expressed seven transmembrane protein							78.0	80.0	79.0					8																	105367351		2203	4300	6503	SO:0001589	frameshift_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367351delA	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1276delA	8.37:g.105367351delA	ENSP00000297581:p.Lys427fs					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	p.K427fs	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1325	+			427					B7ZVW2|E7ESG0|Q2M2D5	Frame_Shift_Del	DEL	ENST00000297581.2	37	c.1276delA	CCDS6301.1																																																																																				0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		27	130						27	130	---	---	---	---
EMC2	9694	broad.mit.edu	37	8	109482097	109482097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:109482097delA	ENST00000220853.3	+	6	441	c.406delA	c.(406-408)aaafs	p.K136fs	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	136						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGCCCAGGGGAAAAATGTGGA	0.388																																						ENST00000220853.3																			0											c.(406-408)aafs		ER membrane protein complex subunit 2							74.0	79.0	77.0					8																	109482097		2203	4300	6503	SO:0001589	frameshift_variant	9694							g.chr8:109482097delA	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.406delA	8.37:g.109482097delA	ENSP00000220853:p.Lys136fs					EMC2_ENST00000520294.1_3'UTR	p.K136fs	NM_014673.3	NP_055488.1					6	441	+								Q8WUE1	Frame_Shift_Del	DEL	ENST00000220853.3	37	c.406delA	CCDS6309.1																																																																																				0.388	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		9	86						9	86	---	---	---	---
FER1L6-AS2	157376	broad.mit.edu	37	8	125164198	125164198	+	RNA	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:125164198delT	ENST00000520031.1	-	0	95					NR_103547.1		Q96M78	FEAS2_HUMAN	FER1L6 antisense RNA 2																		CTTAAAGGGCTTTTTTGGCAC	0.547																																						ENST00000520031.1																			0																																																			157376							g.chr8:125164198delT	AK057332		8q24.13	2012-10-12	2012-08-15	2012-04-18	ENSG00000253868	ENSG00000253868		"""Long non-coding RNAs"""	26534	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 78"", ""FER1L6 antisense RNA 2 (non-protein coding)"""	C8orf78			Standard	NR_103547		Approved	FLJ32770		Q96M78	OTTHUMG00000165000		8.37:g.125164198delT								NR_103547.1						0	95	-									RNA	DEL	ENST00000520031.1	37																																																																																						0.547	FER1L6-AS2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000381402.2			9	15						9	15	---	---	---	---
MROH1	727957	broad.mit.edu	37	8	145246743	145246745	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:145246743_145246745delCTT	ENST00000528919.1	+	8	961_963	c.840_842delCTT	c.(838-843)accttc>acc	p.F281del	MROH1_ENST00000398656.4_In_Frame_Del_p.F281del|MROH1_ENST00000423230.2_In_Frame_Del_p.F281del|MROH1_ENST00000534366.1_In_Frame_Del_p.F281del|MROH1_ENST00000326134.5_In_Frame_Del_p.F281del	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	281																	ACGCAGAGACCTTCTACTTGTCC	0.621																																						ENST00000528919.1																			0											c.(838-843)acc>ac		maestro heat-like repeat family member 1																																				SO:0001651	inframe_deletion	727957							g.chr8:145246743_145246745delCTT		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.840_842delCTT	8.37:g.145246743_145246745delCTT	ENSP00000435565:p.Phe281del					MROH1_ENST00000398656.4_In_Frame_Del_p.TF280del|MROH1_ENST00000534366.1_In_Frame_Del_p.TF280del|MROH1_ENST00000423230.2_In_Frame_Del_p.TF280del|MROH1_ENST00000326134.5_In_Frame_Del_p.TF280del	p.TF280del	NM_032450.2	NP_115826.2					8	961_963	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	In_Frame_Del	DEL	ENST00000528919.1	37	c.840_842delCTT	CCDS47938.1																																																																																				0.621	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		19	42						19	42	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606643	84606643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:84606643delA	ENST00000344803.2	+	4	1305	c.1258delA	c.(1258-1260)aaafs	p.K421fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	421					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGACAAGTCAAAAAAAGGGG	0.448																																						ENST00000344803.2																			0											c.(1258-1260)aafs		SPATA31 subfamily D, member 1							79.0	68.0	72.0					9																	84606643		1844	4091	5935	SO:0001589	frameshift_variant	389763							g.chr9:84606643delA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1258delA	9.37:g.84606643delA	ENSP00000341988:p.Lys421fs						p.K421fs	NM_001001670.2	NP_001001670.1					4	1305	+									Frame_Shift_Del	DEL	ENST00000344803.2	37	c.1258delA	CCDS47986.1																																																																																				0.448	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		27	35						27	35	---	---	---	---
NAA35	60560	broad.mit.edu	37	9	88631578	88631578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:88631578delA	ENST00000361671.5	+	18	1826	c.1693delA	c.(1693-1695)aaafs	p.K568fs		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	568					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AAAAACAAAGAAAAAAAAGAA	0.378																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1693-1695)aafs		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							44.0	46.0	45.0					9																	88631578		2203	4300	6503	SO:0001589	frameshift_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88631578delA	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1693delA	9.37:g.88631578delA	ENSP00000354972:p.Lys568fs						p.K568fs	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			18	1826	+			568					Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	ENST00000361671.5	37	c.1693delA	CCDS6673.1																																																																																				0.378	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		26	40						26	40	---	---	---	---
SPATA31C1	441452	broad.mit.edu	37	9	90534182	90534182	+	RNA	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:90534182delT	ENST00000602681.1	+	0	928							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATCTTGTCTCCCAGCGTCA	0.612																																						ENST00000602681.1																			0																				136.0	110.0	118.0					9																	90534182		692	1591	2283			441452							g.chr9:90534182delT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534182delT														0	928	+									RNA	DEL	ENST00000602681.1	37																																																																																						0.612	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		7	44						7	44	---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96278286	96278286	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:96278286delG	ENST00000277165.6	+	7	1347	c.1153delG	c.(1153-1155)gggfs	p.G386fs	FAM120A_ENST00000333936.5_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000375389.3_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.G386fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	386	Interaction with YES1, SRC and FYN.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCAGCCCAGGGGGCGCCCC	0.647																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1153-1155)ggfs		family with sequence similarity 120A							5.0	4.0	4.0					9																	96278286		1729	2776	4505	SO:0001589	frameshift_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96278286delG	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1153delG	9.37:g.96278286delG	ENSP00000277165:p.Gly386fs					FAM120A_ENST00000333936.5_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000375389.3_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.G386fs	p.G386fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			7	1347	+			386			Interaction with YES1, SRC and FYN.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Del	DEL	ENST00000277165.6	37	c.1153delG	CCDS6706.1																																																																																				0.647	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		7	5						7	5	---	---	---	---
PKN3	29941	broad.mit.edu	37	9	131482247	131482247	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:131482247delC	ENST00000291906.4	+	20	2720	c.2327delC	c.(2326-2328)gccfs	p.A776fs	ZDHHC12_ENST00000467312.1_5'Flank|PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	776	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACATGGACGCCCCCTACCCC	0.627																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2326-2328)gcfs		protein kinase N3							95.0	104.0	101.0					9																	131482247		2203	4300	6503	SO:0001589	frameshift_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482247delC	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2327delC	9.37:g.131482247delC	ENSP00000291906:p.Ala776fs					PKN3_ENST00000485301.1_3'UTR	p.A776fs	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			20	2720	+			776			Protein kinase.		Q9UM03	Frame_Shift_Del	DEL	ENST00000291906.4	37	c.2327delC	CCDS6908.1																																																																																				0.627	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		22	92						22	92	---	---	---	---
ENTPD8	377841	broad.mit.edu	37	9	140327515	140327516	+	IGR	DEL	CT	CT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:140327515_140327516delCT	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Frame_Shift_Del_p.P224fs|NOXA1_ENST00000341349.2_Frame_Shift_Del_p.P280fs			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAACAGGCTCCTCTCTCCCCAG	0.683																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(838-840)cfs		NADPH oxidase activator 1																																				SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327515_140327516delCT	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327519_140327520delCT						NOXA1_ENST00000392815.2_Frame_Shift_Del_p.P224fs	p.P280fs	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	9	1019_1020	+	all_cancers(76;0.0926)		280		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Frame_Shift_Del	DEL	ENST00000472938.1	37	c.839_840delCT	CCDS43913.1																																																																																				0.683	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		18	18						18	18	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5950982	5950982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:5950982delA	ENST00000362091.4	+	4	963	c.848delA	c.(847-849)gaafs	p.E283fs	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Frame_Shift_Del_p.E334fs|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	283					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTGGCATAGAAAAGGAGTCA	0.468																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1000-1002)gafs		F-box protein, helicase, 18							220.0	200.0	207.0					10																	5950982		2203	4300	6503	SO:0001589	frameshift_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5950982delA	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.848delA	10.37:g.5950982delA	ENSP00000355415:p.Glu283fs					FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.E283fs|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379994.1_Frame_Shift_Del_p.E20fs	p.E334fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			5	1105	+			283					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	c.1001delA	CCDS7072.1																																																																																				0.468	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		8	221						8	221	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3013-3015)cagfs		FERM domain containing 4A																																				SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696451_13696452insG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs					FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			23	3382_3383	-			1005			Ser-rich.		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	ENST00000357447.2	37	c.3014_3015insC	CCDS7101.1																																																																																				0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		18	147						18	147	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	83635237	83635238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:83635237_83635238insC	ENST00000404547.1	+	1	141_142	c.141_142insC	c.(142-144)cccfs	p.P48fs	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000372141.2_Frame_Shift_Ins_p.P48fs|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	48					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGCGGCCGAGCCCCCCCGGGA	0.757																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(139-144)gaccccfs		neuregulin 3			,	17,4225		0,17,2104					,	1.2	1.0			19	35,8195		1,33,4081	no	frameshift,frameshift	NRG3	NM_001165972.1,NM_001010848.3	,	1,50,6185	A1A1,A1R,RR		0.4253,0.4008,0.4169	,	,		52,12420				SO:0001589	frameshift_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635237_83635238insC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.148dupC	10.37:g.83635244_83635244dupC	ENSP00000384796:p.Pro48fs					NRG3_ENST00000372141.2_Frame_Shift_Ins_p.DP47fs	p.DP47fs			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	141_142	+			47					A4D7U1|Q0PEH2|Q5VYH3	Frame_Shift_Ins	INS	ENST00000404547.1	37	c.141_142insC	CCDS31233.1																																																																																				0.757	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		5	9						5	9	---	---	---	---
HHEX	3087	broad.mit.edu	37	10	94454326	94454328	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:94454326_94454328delAAG	ENST00000282728.5	+	4	2413_2415	c.614_616delAAG	c.(613-618)aaagaa>aaa	p.E207del	HHEX_ENST00000472590.2_In_Frame_Del_p.E35del|HHEX_ENST00000492654.2_In_Frame_Del_p.E35del	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	207					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AGCAATAAAAAAGAAGAACTGGA	0.389																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(613-618)aaa>a		hematopoietically expressed homeobox																																				SO:0001651	inframe_deletion	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454326_94454328delAAG	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.614_616delAAG	10.37:g.94454329_94454331delAAG	ENSP00000282728:p.Glu207del					HHEX_ENST00000492654.2_In_Frame_Del_p.KE33del|HHEX_ENST00000472590.2_In_Frame_Del_p.KE33del	p.KE205del	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2413_2415	+			205					B1AQ17|Q96CE9	In_Frame_Del	DEL	ENST00000282728.5	37	c.614_616delAAG	CCDS7423.1																																																																																				0.389	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			54	108						54	108	---	---	---	---
DHX32	55760	broad.mit.edu	37	10	127548334	127548336	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:127548334_127548336delATA	ENST00000284690.3	-	3	1175_1177	c.685_687delTAT	c.(685-687)tatdel	p.Y229del	DHX32_ENST00000284688.6_In_Frame_Del_p.Y229del	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	229	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCACGTTTCCATAATAAGAATTG	0.384																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(685-687)del		DEAH (Asp-Glu-Ala-His) box polypeptide 32																																				SO:0001651	inframe_deletion	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127548334_127548336delATA		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.685_687delTAT	10.37:g.127548337_127548339delATA	ENSP00000284690:p.Tyr229del					DHX32_ENST00000284688.6_In_Frame_Del_p.Y229del	p.Y229del	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			3	1175_1177	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	229			Helicase ATP-binding.		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	In_Frame_Del	DEL	ENST00000284690.3	37	c.685_687delTAT	CCDS7652.1																																																																																				0.384	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		47	337						47	337	---	---	---	---
KCNQ1	3784	broad.mit.edu	37	11	2609949	2609949	+	Frame_Shift_Del	DEL	A	A	-	rs397508083		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:2609949delA	ENST00000155840.5	+	10	1366	c.1258delA	c.(1258-1260)aaafs	p.K422fs	KCNQ1_ENST00000335475.5_Frame_Shift_Del_p.K295fs	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	422					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTAGGTAAAGAAAAAAAAGTT	0.562																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1258-1260)aafs		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						49.0	52.0	51.0					11																	2609949		2202	4299	6501	SO:0001589	frameshift_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2609949delA	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1258delA	11.37:g.2609949delA	ENSP00000155840:p.Lys422fs					KCNQ1_ENST00000335475.5_Frame_Shift_Del_p.K295fs	p.K422fs	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	10	1366	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	422					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Frame_Shift_Del	DEL	ENST00000155840.5	37	c.1258delA	CCDS7736.1																																																																																				0.562	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		17	56						17	56	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs188153920	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)ggfs		dachsous cadherin-related 1							100.0	101.0	101.0					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662142delG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs						p.R236fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	236			Cadherin 2.		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	c.703delC	CCDS7771.1																																																																																				0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		66	195						66	195	---	---	---	---
AKIP1	56672	broad.mit.edu	37	11	8936454	8936454	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:8936454delT	ENST00000309377.4	+	4	475	c.385delT	c.(385-387)tgcfs	p.C129fs	AKIP1_ENST00000534506.1_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000534147.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000309357.4_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000525005.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000299576.5_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000529876.1_Frame_Shift_Del_p.C102fs	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	129					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						GCTGCACATGTGCTTGGACAT	0.468											OREG0020740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529876.1																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(304-306)gcfs		A kinase (PRKA) interacting protein 1							186.0	155.0	166.0					11																	8936454		2201	4296	6497	SO:0001589	frameshift_variant	56672					nucleus	protein binding	g.chr11:8936454delT	AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.385delT	11.37:g.8936454delT	ENSP00000310459:p.Cys129fs		OREG0020740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	AKIP1_ENST00000299576.5_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000534147.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000309377.4_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000525005.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000534506.1_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000309357.4_Frame_Shift_Del_p.C129fs	p.C102fs			Q9NQ31	AKIP1_HUMAN			2	565	+			129					Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Frame_Shift_Del	DEL	ENST00000309377.4	37	c.304delT	CCDS7793.1																																																																																				0.468	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		39	81						39	81	---	---	---	---
FBXO3	26273	broad.mit.edu	37	11	33792303	33792304	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:33792303_33792304insT	ENST00000265651.3	-	2	195_196	c.177_178insA	c.(175-180)aaatacfs	p.Y60fs	FBXO3_ENST00000448981.2_Frame_Shift_Ins_p.Y60fs|FBXO3_ENST00000534136.1_Frame_Shift_Ins_p.Y60fs|FBXO3_ENST00000530401.1_Frame_Shift_Ins_p.Y55fs|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000533103.1_5'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	60					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATCAGCCAGTATTTTTTGCAAT	0.426																																						ENST00000530401.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(160-165)aaactgfs		F-box protein 3																																				SO:0001589	frameshift_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33792303_33792304insT	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.178dupA	11.37:g.33792309_33792309dupT	ENSP00000265651:p.Tyr60fs					FBXO3_ENST00000265651.3_Frame_Shift_Ins_p.L60fs|FBXO3_ENST00000448981.2_Frame_Shift_Ins_p.L60fs|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000534136.1_Frame_Shift_Ins_p.L60fs	p.L55fs			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	2	182_183	-		Lung NSC(402;0.0804)	60			F-box.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Frame_Shift_Ins	INS	ENST00000265651.3	37	c.162_163insA	CCDS7887.1																																																																																				0.426	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		38	818						38	818	---	---	---	---
LOC283194	283194	broad.mit.edu	37	11	58763346	58763347	+	RNA	DEL	GA	GA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:58763346_58763347delGA	ENST00000533954.1	-	0	507				RP11-142C4.6_ENST00000532098.1_RNA	NR_033853.1																						TCTGCCGCATGAGCATAAAATG	0.406																																						ENST00000533954.1																			0																																																			283194							g.chr11:58763346_58763347delGA																													11.37:g.58763346_58763347delGA						RP11-142C4.6_ENST00000532098.1_RNA		NR_033853.1						0	507	-									RNA	DEL	ENST00000533954.1	37																																																																																						0.406	RP11-142C4.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000394603.1			27	42						27	42	---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61644278	61644278	+	Intron	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:61644278delG	ENST00000278829.2	-	8	1136				FADS3_ENST00000540820.1_Frame_Shift_Del_p.P349fs|FADS3_ENST00000527697.1_Intron|FADS3_ENST00000525588.1_Intron	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3						unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						aagctcTGGTGGGGGGCTGCA	0.612																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1042-1044)cafs		fatty acid desaturase 3																																				SO:0001627	intron_variant	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61644278delG		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.983+59C>-	11.37:g.61644278delG						FADS3_ENST00000527697.1_Intron|FADS3_ENST00000525588.1_Intron|FADS3_ENST00000278829.2_Intron	p.P349fs			Q9Y5Q0	FADS3_HUMAN			8	1115	-			0					O60426	Frame_Shift_Del	DEL	ENST00000278829.2	37	c.1043delC	CCDS8013.1																																																																																				0.612	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			2	4						2	4	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62484649	62484650	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62484649_62484650delAA	ENST00000301785.5	-	11	1984_1985	c.1792_1793delTT	c.(1792-1794)ttgfs	p.L598fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.L598fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	598						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTTTTCAGGCAAAGAGAAGTTG	0.441																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1792-1794)gfs		heterogeneous nuclear ribonucleoprotein U-like 2																																				SO:0001589	frameshift_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62484649_62484650delAA		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1792_1793delTT	11.37:g.62484649_62484650delAA	ENSP00000301785:p.Leu598fs					RP11-831H9.16_ENST00000403734.2_Frame_Shift_Del_p.L598fs	p.L598fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			11	1984_1985	-			598					Q8N3B3	Frame_Shift_Del	DEL	ENST00000301785.5	37	c.1792_1793delTT	CCDS41659.1																																																																																				0.441	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		31	48						31	48	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62649529delA	ENST00000377890.2	+	5	1060	c.892delA	c.(892-894)aaafs	p.K300fs	SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000377892.1_Frame_Shift_Del_p.K331fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	300					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463																																						ENST00000377892.1																			1	Deletion - Frameshift(1)	p.K331fs*31(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(985-987)aafs		solute carrier family 3 (amino acid transporter heavy chain), member 2							73.0	74.0	74.0					11																	62649529		2201	4298	6499	SO:0001589	frameshift_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649529delA		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.892delA	11.37:g.62649529delA	ENSP00000367122:p.Lys300fs					SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs	p.K331fs			P08195	4F2_HUMAN			6	1209	+			300					Q13543	Frame_Shift_Del	DEL	ENST00000377890.2	37	c.985delA	CCDS8039.2																																																																																				0.463	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		53	137						53	137	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89537226	89537226	+	Splice_Site	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:89537226delC	ENST00000329758.1	-	3	740		c.e3+1		TRIM49_ENST00000532501.2_Splice_Site	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCATCACTTACCCGGTGTTCC	0.493																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.e3+1		tripartite motif containing 49							20.0	20.0	20.0					11																	89537226		2016	4014	6030	SO:0001630	splice_region_variant	57093					intracellular	zinc ion binding	g.chr11:89537226delC	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.411+1G>-	11.37:g.89537226delC						TRIM49_ENST00000532501.2_Splice_Site		NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			3	740	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)						A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Splice_Site	DEL	ENST00000329758.1	37		CCDS8287.1																																																																																				0.493	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	Intron	22	46						22	46	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94730807	94730807	+	Frame_Shift_Del	DEL	A	A	-	rs142280183		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:94730807delA	ENST00000335080.5	+	3	1103	c.271delA	c.(271-273)aaafs	p.K94fs	KDM4D_ENST00000536741.1_Frame_Shift_Del_p.K94fs	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	94	Poly-Lys.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCAATACCATAAAAAAAAGAA	0.453																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(271-273)aafs		lysine (K)-specific demethylase 4D							53.0	58.0	57.0					11																	94730807		2200	4298	6498	SO:0001589	frameshift_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94730807delA	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.271delA	11.37:g.94730807delA	ENSP00000334181:p.Lys94fs					KDM4D_ENST00000536741.1_Frame_Shift_Del_p.K94fs	p.K94fs	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1103	+			94			Poly-Lys.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Frame_Shift_Del	DEL	ENST00000335080.5	37	c.271delA	CCDS8302.1																																																																																				0.453	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		63	125						63	125	---	---	---	---
SLC6A12	6539	broad.mit.edu	37	12	309834	309834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:309834delC	ENST00000428720.1	-	7	1437	c.694delG	c.(694-696)gtcfs	p.V232fs	SLC6A12_ENST00000359674.4_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000536824.1_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000397296.2_Frame_Shift_Del_p.V232fs|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Frame_Shift_Del_p.V232fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	232					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTGGACTTGACCCCCTTCCAG	0.622																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(694-696)tcfs		solute carrier family 6 (neurotransmitter transporter), member 12							132.0	133.0	133.0					12																	309834		2203	4300	6503	SO:0001589	frameshift_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:309834delC	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.694delG	12.37:g.309834delC	ENSP00000388184:p.Val232fs					SLC6A12_ENST00000424061.2_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000536824.1_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000359674.4_Frame_Shift_Del_p.V232fs	p.V232fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		7	1437	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		232					A0AV52|B2R992|D3DUN8	Frame_Shift_Del	DEL	ENST00000428720.1	37	c.694delG	CCDS8501.1																																																																																				0.622	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		92	190						92	190	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5155012	5155012	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:5155012delG	ENST00000252321.3	+	1	1928	c.1699delG	c.(1699-1701)gggfs	p.G568fs		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	568					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTGCAAGGCTGGGGGGACCCT	0.632																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1699-1701)ggfs		potassium voltage-gated channel, shaker-related subfamily, member 5							32.0	36.0	35.0					12																	5155012		2203	4300	6503	SO:0001589	frameshift_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155012delG	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1699delG	12.37:g.5155012delG	ENSP00000252321:p.Gly568fs						p.G568fs	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1928	+			568					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Frame_Shift_Del	DEL	ENST00000252321.3	37	c.1699delG	CCDS8536.1																																																																																				0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		9	34						9	34	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461543	11461543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:11461543delG	ENST00000535904.1	-	3	407	c.374delC	c.(373-375)ccafs	p.P125fs	PRB4_ENST00000279575.1_Frame_Shift_Del_p.P125fs|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	146	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCTCCTTGTGGGGGTGGTCT	0.607										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(373-375)cafs		proline-rich protein BstNI subfamily 4							154.0	172.0	166.0					12																	11461543		2203	4300	6503	SO:0001589	frameshift_variant	5545					extracellular region		g.chr12:11461543delG		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.374delC	12.37:g.11461543delG	ENSP00000442834:p.Pro125fs	HNSCC(22;0.051)				PRB4_ENST00000535904.1_Frame_Shift_Del_p.P125fs|PRB4_ENST00000445719.2_Intron	p.P125fs	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	407	-			188		Missing (in allele M and allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Frame_Shift_Del	DEL	ENST00000535904.1	37	c.374delC	CCDS8641.1																																																																																				0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		12	1169						12	1169	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14781652	14781652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:14781652delT	ENST00000261170.3	-	20	2313	c.2177delA	c.(2176-2178)aacfs	p.N726fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTCCCAACAGTTTTTTACAAG	0.343																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2176-2178)acfs		guanylate cyclase 2C (heat stable enterotoxin receptor)							108.0	117.0	114.0					12																	14781652		2203	4300	6503	SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14781652delT		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2177delA	12.37:g.14781652delT	ENSP00000261170:p.Asn726fs						p.N726fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			20	2313	-			726			Protein kinase.		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	c.2177delA	CCDS8664.1																																																																																				0.343	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			45	145						45	145	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56566385	56566385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:56566385delT	ENST00000267064.4	-	18	1840	c.1754delA	c.(1753-1755)aagfs	p.K585fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.K616fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.K616fs|SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.K616fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	585					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAACATTCTTTTTTGTGTA	0.498																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1846-1848)agfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							183.0	168.0	173.0					12																	56566385		2203	4300	6503	SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56566385delT	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1754delA	12.37:g.56566385delT	ENSP00000267064:p.Lys585fs					SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.K616fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.K585fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.K616fs	p.K616fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		19	1952	-			585			SANT.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	c.1847delA	CCDS8907.1																																																																																				0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			59	128						59	128	---	---	---	---
DTX3	196403	broad.mit.edu	37	12	58000848	58000848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:58000848delC	ENST00000548198.1	+	3	1706	c.202delC	c.(202-204)cccfs	p.P69fs	DTX3_ENST00000551632.1_Frame_Shift_Del_p.P72fs|DTX3_ENST00000548804.1_Frame_Shift_Del_p.P69fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P69fs			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	69					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACAGGGTCCTCCCCCGGCCCC	0.602																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(202-204)ccfs		deltex homolog 3 (Drosophila)							83.0	90.0	88.0					12																	58000848		1864	4089	5953	SO:0001589	frameshift_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58000848delC	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.202delC	12.37:g.58000848delC	ENSP00000447873:p.Pro69fs					DTX3_ENST00000548804.1_Frame_Shift_Del_p.P69fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P69fs|DTX3_ENST00000551632.1_Frame_Shift_Del_p.P72fs	p.P69fs			Q8N9I9	DTX3_HUMAN			3	1706	+	Melanoma(17;0.122)		69					Q53ZZ2|Q8NAU6|Q8NDS8	Frame_Shift_Del	DEL	ENST00000548198.1	37	c.202delC	CCDS41800.1																																																																																				0.602	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		67	208						67	208	---	---	---	---
DTX3	196403	broad.mit.edu	37	12	58001073	58001073	+	Frame_Shift_Del	DEL	C	C	-	rs368321146		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:58001073delC	ENST00000548198.1	+	3	1931	c.427delC	c.(427-429)cccfs	p.P144fs	DTX3_ENST00000551632.1_Frame_Shift_Del_p.P147fs|DTX3_ENST00000548804.1_Frame_Shift_Del_p.P144fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P144fs|ARHGEF25_ENST00000333972.7_5'Flank			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	144	Pro-rich.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ccctcctcctccccccctgcc	0.697																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(427-429)ccfs		deltex homolog 3 (Drosophila)							5.0	6.0	6.0					12																	58001073		1714	3884	5598	SO:0001589	frameshift_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58001073delC	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.427delC	12.37:g.58001073delC	ENSP00000447873:p.Pro144fs					DTX3_ENST00000548804.1_Frame_Shift_Del_p.P144fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P144fs|DTX3_ENST00000551632.1_Frame_Shift_Del_p.P147fs	p.P144fs			Q8N9I9	DTX3_HUMAN			3	1931	+	Melanoma(17;0.122)		144			Pro-rich.		Q53ZZ2|Q8NAU6|Q8NDS8	Frame_Shift_Del	DEL	ENST00000548198.1	37	c.427delC	CCDS41800.1																																																																																				0.697	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		4	8						4	8	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83444732	83444732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:83444732delA	ENST00000321196.3	+	10	2909	c.2202delA	c.(2200-2202)gcafs	p.A734fs	TMTC2_ENST00000549919.1_Frame_Shift_Del_p.A728fs	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	734					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTGAGATGGCAAAAAAAGCAG	0.433																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2182-2184)gcfs		transmembrane and tetratricopeptide repeat containing 2							111.0	103.0	106.0					12																	83444732		2203	4300	6503	SO:0001589	frameshift_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83444732delA	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2202delA	12.37:g.83444732delA	ENSP00000322300:p.Ala734fs					TMTC2_ENST00000321196.3_Frame_Shift_Del_p.A734fs	p.A728fs			Q8N394	TMTC2_HUMAN			11	3989	+			734					B2RCU7|Q8N2K8	Frame_Shift_Del	DEL	ENST00000321196.3	37	c.2184delA	CCDS9025.1																																																																																				0.433	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		21	81						21	81	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118199247	118199248	+	Frame_Shift_Ins	INS	-	-	G	rs373628463		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:118199247_118199248insG	ENST00000339824.5	-	4	1281_1282	c.554_555insC	c.(553-555)ccgfs	p.P185fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.P156fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGGGCTCCGGGGGGCACAC	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(466-468)cgafs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199247_118199248insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.555dupC	12.37:g.118199253_118199253dupG	ENSP00000339952:p.Pro185fs					KSR2_ENST00000339824.5_Frame_Shift_Ins_p.R185fs	p.R156fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	521_522	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		185					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.467_468insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		50	98						50	98	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120591026	120591026	+	Frame_Shift_Del	DEL	G	G	-	rs371817946		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:120591026delG	ENST00000300648.6	-	33	4065	c.4053delC	c.(4051-4053)cccfs	p.P1351fs	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1351					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTGCTGGGAGGGGGTGGAGA	0.602																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4051-4053)ccfs		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							54.0	58.0	57.0					12																	120591026		1990	4155	6145	SO:0001589	frameshift_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120591026delG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4053delC	12.37:g.120591026delG	ENSP00000300648:p.Pro1351fs						p.P1351fs	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			33	4065	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1351					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Frame_Shift_Del	DEL	ENST00000300648.6	37	c.4053delC	CCDS41847.1																																																																																				0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			18	91						18	91	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132537936	132537936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:132537936delC	ENST00000333577.4	+	44	7739	c.7630delC	c.(7630-7632)cccfs	p.P2546fs	EP400_ENST00000330386.6_Frame_Shift_Del_p.P2429fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P2510fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.P2473fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.P2509fs			Q96L91	EP400_HUMAN	E1A binding protein p400	2546	Interaction with ZNF42. {ECO:0000250}.|Poly-Pro.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCAgccacccccgcccca	0.736																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(7630-7632)ccfs		E1A binding protein p400							6.0	8.0	7.0					12																	132537936		1989	3989	5978	SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132537936delC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7630delC	12.37:g.132537936delC	ENSP00000333602:p.Pro2546fs					EP400_ENST00000389562.2_Frame_Shift_Del_p.P2509fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.P2473fs|EP400_ENST00000330386.6_Frame_Shift_Del_p.P2429fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P2510fs	p.P2546fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	44	7739	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2546			Interaction with ZNF42 (By similarity).|Poly-Pro.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Del	DEL	ENST00000333577.4	37	c.7630delC																																																																																					0.736	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	17						11	17	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20398645	20398645	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:20398645delT	ENST00000337963.4	-	8	2246	c.1982delA	c.(1981-1983)aatfs	p.N661fs		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	661						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		cacaccatcatttttctcatt	0.323																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1981-1983)atfs		zinc finger, MYM-type 5							130.0	104.0	112.0					13																	20398645		1568	3582	5150	SO:0001589	frameshift_variant	9205					nucleus	zinc ion binding	g.chr13:20398645delT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1982delA	13.37:g.20398645delT	ENSP00000337034:p.Asn661fs						p.N661fs	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	2246	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	661					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Frame_Shift_Del	DEL	ENST00000337963.4	37	c.1982delA																																																																																					0.323	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		21	41						21	41	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21205180	21205180	+	Frame_Shift_Del	DEL	A	A	-	rs547326608		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:21205180delA	ENST00000319980.6	+	18	1679	c.1352delA	c.(1351-1353)gaafs	p.E451fs	IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs|IFT88_ENST00000382778.4_Frame_Shift_Del_p.E451fs|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	451					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGTGTTGGAAAAAAAGGAC	0.363																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1351-1353)gafs		intraflagellar transport 88 homolog (Chlamydomonas)							108.0	110.0	109.0					13																	21205180		2203	4300	6503	SO:0001589	frameshift_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21205180delA	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1352delA	13.37:g.21205180delA	ENSP00000323580:p.Glu451fs					IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs|IFT88_ENST00000319980.6_Frame_Shift_Del_p.E451fs|IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000461115.1_3'UTR	p.E451fs			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	17	2470	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	451					A2A491|B4DUS2|Q5SZJ6|Q8N719	Frame_Shift_Del	DEL	ENST00000319980.6	37	c.1352delA	CCDS31944.1																																																																																				0.363	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		87	154						87	154	---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:34398063delA	ENST00000380071.3	+	3	365	c.235delA	c.(235-237)aaafs	p.K81fs	RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	81					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(235-237)aafs		replication factor C (activator 1) 3, 38kDa			,	108,4134		12,84,2025	27.0	30.0	29.0		,	1.9	1.0	13		30	256,7956		39,178,3889	no	frameshift,frameshift	RFC3	NM_181558.2,NM_002915.3	,	51,262,5914	A1A1,A1R,RR		3.1174,2.546,2.9228	,	,	34398063	364,12090	2195	4285	6480	SO:0001589	frameshift_variant	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34398063delA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.235delA	13.37:g.34398063delA	ENSP00000369411:p.Lys81fs					RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	3	365	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	81					C9JU95|O15252|Q5W0E8	Frame_Shift_Del	DEL	ENST00000380071.3	37	c.235delA	CCDS9352.1																																																																																				0.269	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		17	50						17	50	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77759324	77759326	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:77759324_77759326delTAT	ENST00000544440.2	-	32	4534_4536	c.4517_4519delATA	c.(4516-4521)aatact>act	p.N1506del	MYCBP2_ENST00000357337.6_In_Frame_Del_p.N1506del|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_In_Frame_Del_p.N1544del					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAGTGAAAGTATTATGACATTC	0.419																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4630-4635)act>a		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77759324_77759326delTAT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4517_4519delATA	13.37:g.77759327_77759329delTAT	ENSP00000444596:p.Asn1506del					MYCBP2_ENST00000357337.6_In_Frame_Del_p.NT1506del|MYCBP2_ENST00000544440.2_In_Frame_Del_p.NT1506del|MYCBP2_ENST00000360084.5_5'UTR	p.NT1544del	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	32	4897_4899	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1506						In_Frame_Del	DEL	ENST00000544440.2	37	c.4631_4633delATA																																																																																					0.419	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		47	126						47	126	---	---	---	---
LAMP1	3916	broad.mit.edu	37	13	113965071	113965071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:113965071delA	ENST00000332556.4	+	4	645	c.451delA	c.(451-453)aaafs	p.K152fs	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	152	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGATATAGATAAAAAATACAG	0.398																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(451-453)aafs		lysosomal-associated membrane protein 1							100.0	105.0	103.0					13																	113965071		2072	4192	6264	SO:0001589	frameshift_variant	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113965071delA	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.451delA	13.37:g.113965071delA	ENSP00000333298:p.Lys152fs					LAMP1_ENST00000397181.3_Intron	p.K152fs	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		4	645	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	152			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Frame_Shift_Del	DEL	ENST00000332556.4	37	c.451delA	CCDS41909.1																																																																																				0.398	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			70	133						70	133	---	---	---	---
SMEK1	55671	broad.mit.edu	37	14	91927912	91927913	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:91927912_91927913delTT	ENST00000554943.1	-	14	2318_2319	c.2203_2204delAA	c.(2203-2205)aacfs	p.N735fs	SMEK1_ENST00000555462.1_Frame_Shift_Del_p.N496fs|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554684.1_Frame_Shift_Del_p.N722fs|SMEK1_ENST00000428424.2_Frame_Shift_Del_p.N496fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.N722fs			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	735					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGAAAGGTTTGTTTTCAGA	0.421																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(2164-2166)cfs		SMEK homolog 1, suppressor of mek1 (Dictyostelium)																																				SO:0001589	frameshift_variant	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91927912_91927913delTT	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2203_2204delAA	14.37:g.91927912_91927913delTT	ENSP00000450883:p.Asn735fs					SMEK1_ENST00000428424.2_Frame_Shift_Del_p.N496fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.N722fs|SMEK1_ENST00000554943.1_Frame_Shift_Del_p.N735fs|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Frame_Shift_Del_p.N496fs	p.N722fs			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	14	2660_2661	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	735					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Frame_Shift_Del	DEL	ENST00000554943.1	37	c.2164_2165delAA																																																																																					0.421	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		220	104						220	104	---	---	---	---
LOC283683	283683	broad.mit.edu	37	15	23114116	23114116	+	RNA	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:23114116delA	ENST00000557922.1	-	0	243					NR_040057.1																						TACATACCCTAAAAAAAAGCC	0.363																																						ENST00000557922.1																			0																																																			283683							g.chr15:23114116delA																													15.37:g.23114116delA								NR_040057.1						0	243	-									RNA	DEL	ENST00000557922.1	37																																																																																						0.363	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			11	8						11	8	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			400322							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	4						5	4	---	---	---	---
DNAJC17	55192	broad.mit.edu	37	15	41067229	41067231	+	Splice_Site	DEL	CTT	CTT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:41067229_41067231delCTT	ENST00000220496.4	-	8	628_630	c.598_600delAAG	c.(598-600)aagdel	p.K200del		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	200	RRM.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGGGCCGACCTTCTGCAAAAGC	0.488																																						ENST00000220496.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6						c.e8+1		DnaJ (Hsp40) homolog, subfamily C, member 17																																				SO:0001630	splice_region_variant	55192				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding	g.chr15:41067229_41067231delCTT	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.600+1AAG>-	15.37:g.41067229_41067231delCTT							p.K200_splice	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	8	628_630	-		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	200			RRM.			Splice_Site	DEL	ENST00000220496.4	37	c.600_splice	CCDS10065.1																																																																																				0.488	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163	In_Frame_Del	29	67						29	67	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	76958026	76958026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:76958026delT	ENST00000563290.1	-	21	2708	c.2613delA	c.(2611-2613)aaafs	p.K871fs	SCAPER_ENST00000538941.2_Frame_Shift_Del_p.K625fs|SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	871						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTTTTTGGCTTTTTTTTTAT	0.338																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1873-1875)aafs		S-phase cyclin A-associated protein in the ER			,	7,48,3395		0,0,7,6,36,1676	66.0	59.0	61.0		,	5.9	1.0	15		62	26,139,7613		0,0,26,27,85,3751	no	codingComplex,codingComplex	SCAPER	NM_020843.2,NM_001145923.1	,	0,0,33,33,121,5427	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1214,1.5942,1.9594	,	,	76958026	33,187,11008	1782	4047	5829	SO:0001589	frameshift_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76958026delT	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2613delA	15.37:g.76958026delT	ENSP00000454973:p.Lys871fs					SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs|SCAPER_ENST00000563290.1_Frame_Shift_Del_p.K871fs	p.K625fs	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			21	2814	-			870			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Del	DEL	ENST00000563290.1	37	c.1875delA	CCDS53962.1																																																																																				0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		14	25						14	25	---	---	---	---
CLDN6	9074	broad.mit.edu	37	16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-	rs536531302		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:3065456delC	ENST00000396925.1	-	3	995	c.567delG	c.(565-567)gggfs	p.G189fs	CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs|CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	189					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGCCCTGGGACCCCCCCGAGG	0.642																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(565-567)ggfs		claudin 6							27.0	33.0	31.0					16																	3065456		2198	4300	6498	SO:0001589	frameshift_variant	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065456delC	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.567delG	16.37:g.3065456delC	ENSP00000380131:p.Gly189fs					CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs|CLDN6_ENST00000572154.1_Intron	p.G189fs			P56747	CLD6_HUMAN			3	995	-			189					B3KQP9|D3DUA5	Frame_Shift_Del	DEL	ENST00000396925.1	37	c.567delG	CCDS10488.1																																																																																				0.642	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		21	57						21	57	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857380	9857380	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:9857380delT	ENST00000396573.2	-	14	4330	c.4021delA	c.(4021-4023)agcfs	p.S1342fs	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.S1342fs|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.S1342fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1342					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAAAGGGAGCTTTTTTTCCCC	0.542																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4021-4023)gcfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						62.0	65.0	64.0					16																	9857380		2197	4300	6497	SO:0001589	frameshift_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857380delT		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4021delA	16.37:g.9857380delT	ENSP00000379818:p.Ser1342fs					GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.S1342fs|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.S1342fs	p.S1342fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4330	-			1342					O00669|Q17RZ6	Frame_Shift_Del	DEL	ENST00000396573.2	37	c.4021delA	CCDS10539.1																																																																																				0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			51	114						51	114	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20796371	20796371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:20796371delA	ENST00000289416.5	+	8	1560	c.1085delA	c.(1084-1086)gaafs	p.E362fs	ACSM3_ENST00000567387.1_3'UTR|RNU6-944P_ENST00000364023.1_RNA|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Frame_Shift_Del_p.E354fs|ACSM3_ENST00000440284.2_Frame_Shift_Del_p.E362fs	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	362					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GACGTGACTGAAAAATGGAGA	0.428																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1084-1086)gafs		acyl-CoA synthetase medium-chain family member 3							133.0	121.0	125.0					16																	20796371		2201	4300	6501	SO:0001589	frameshift_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20796371delA	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1085delA	16.37:g.20796371delA	ENSP00000289416:p.Glu362fs					ACSM3_ENST00000440284.2_Frame_Shift_Del_p.E362fs|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Frame_Shift_Del_p.E354fs	p.E362fs	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			8	1560	+			362					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Frame_Shift_Del	DEL	ENST00000289416.5	37	c.1085delA	CCDS10589.1																																																																																				0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		60	144						60	144	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23690512	23690513	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:23690512_23690513delTC	ENST00000300093.4	+	1	370_371	c.259_260delTC	c.(259-261)tctfs	p.S87fs	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TGTGCCTAAGTCTCTGCTGCTC	0.584																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(259-261)tfs		polo-like kinase 1																																				SO:0001589	frameshift_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23690512_23690513delTC		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.259_260delTC	16.37:g.23690514_23690515delTC	ENSP00000300093:p.Ser87fs					PLK1_ENST00000564202.1_3'UTR	p.S87fs	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	1	370_371	+			87			Protein kinase.		Q15153|Q99746	Frame_Shift_Del	DEL	ENST00000300093.4	37	c.259_260delTC	CCDS10616.1																																																																																				0.584	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		12	24						12	24	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46695735	46695735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:46695735delT	ENST00000299138.7	-	16	2164	c.2106delA	c.(2104-2106)aaafs	p.K702fs	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	702					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTTTAGAGCTTTTTTTAGGC	0.368																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2104-2106)aafs		vacuolar protein sorting 35 homolog (S. cerevisiae)							117.0	118.0	117.0					16																	46695735		2203	4300	6503	SO:0001589	frameshift_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46695735delT	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2106delA	16.37:g.46695735delT	ENSP00000299138:p.Lys702fs						p.K702fs	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			16	2164	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	702					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Frame_Shift_Del	DEL	ENST00000299138.7	37	c.2106delA	CCDS10721.1																																																																																				0.368	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			7	336						7	336	---	---	---	---
SLC7A6	9057	broad.mit.edu	37	16	68321684	68321685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:68321684_68321685insG	ENST00000566454.1	+	5	828_829	c.559_560insG	c.(559-561)tggfs	p.W187fs	SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.W187fs	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTATGTCAAGTGGGGCACACGT	0.54																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(559-561)gggfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6																																				SO:0001589	frameshift_variant	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68321684_68321685insG	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.563dupG	16.37:g.68321688_68321688dupG	ENSP00000455064:p.Trp187fs					SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.G187fs	p.G187fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	5	828_829	+		Ovarian(137;0.0563)	187						Frame_Shift_Ins	INS	ENST00000566454.1	37	c.559_560insG	CCDS32470.1																																																																																				0.540	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		49	106						49	106	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372597	74372597	+	RNA	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:74372597delA	ENST00000429810.2	-	0	1599																											TTCCCAGGACAAAAAAAAAAA	0.403																																						ENST00000429810.2																			0																																																			0							g.chr16:74372597delA																													16.37:g.74372597delA														0	1599	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.403	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			19	12						19	12	---	---	---	---
ZDHHC7	55625	broad.mit.edu	37	16	85010045	85010045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:85010045delC	ENST00000313732.4	-	8	1183	c.831delG	c.(829-831)gggfs	p.G277fs	ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.G314fs|ZDHHC7_ENST00000569488.1_5'Flank	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	277					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GTGAGGGGGGCCCCCCAAAGA	0.577																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(829-831)ggfs		zinc finger, DHHC-type containing 7							48.0	58.0	55.0					16																	85010045		2199	4300	6499	SO:0001589	frameshift_variant	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85010045delC	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.831delG	16.37:g.85010045delC	ENSP00000315604:p.Gly277fs					ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.G314fs	p.G277fs	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			8	1183	-			277					D3DUM1|Q8WV42|Q9NVD8	Frame_Shift_Del	DEL	ENST00000313732.4	37	c.831delG	CCDS10950.1																																																																																				0.577	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		37	68						37	68	---	---	---	---
GP1BA	2811	broad.mit.edu	37	17	4837372	4837373	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:4837372_4837373insA	ENST00000329125.5	+	2	1548_1549	c.1473_1474insA	c.(1474-1476)aaafs	p.K492fs		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	492					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.T494fs*59(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCAT	0.5																																						ENST00000329125.5																			1	Deletion - Frameshift(1)	p.T494fs*59(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(1471-1476)acaaaafs		glycoprotein Ib (platelet), alpha polypeptide																																				SO:0001589	frameshift_variant	2811							g.chr17:4837372_4837373insA		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1480dupA	17.37:g.4837379_4837379dupA	ENSP00000329380:p.Lys492fs						p.TK491fs	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	1548_1549	+			491					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Frame_Shift_Ins	INS	ENST00000329125.5	37	c.1473_1474insA	CCDS54068.1																																																																																				0.500	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			44	82						44	82	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7748975	7748975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7748975delC	ENST00000448097.2	+	4	434	c.103delC	c.(103-105)cccfs	p.P37fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.P37fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	37	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCGCCTCATCCCCCTCCTCG	0.657																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(103-105)ccfs		lysine (K)-specific demethylase 6B							55.0	56.0	56.0					17																	7748975		2203	4299	6502	SO:0001589	frameshift_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7748975delC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.103delC	17.37:g.7748975delC	ENSP00000412513:p.Pro37fs					KDM6B_ENST00000448097.2_Frame_Shift_Del_p.P37fs	p.P37fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			4	492	+			37			Pro-rich.		C9IZ40|Q96G33	Frame_Shift_Del	DEL	ENST00000448097.2	37	c.103delC																																																																																					0.657	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		59	150						59	150	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12626277	12626278	+	Frame_Shift_Ins	INS	-	-	A	rs267604740		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:12626277_12626278insA	ENST00000343344.4	+	5	367_368	c.367_368insA	c.(367-369)gaafs	p.E123fs	MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.E123fs|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.E27fs			Q8IZQ8	MYCD_HUMAN	myocardin	123					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAGCTGGTGGAAAAAAACATT	0.47																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(367-369)aaafs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626277_12626278insA	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.374dupA	17.37:g.12626284_12626284dupA	ENSP00000341835:p.Glu123fs					MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.K123fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.K27fs	p.K123fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	567_568	+			123					Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.367_368insA	CCDS11163.1																																																																																				0.470	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		55	192						55	192	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29664535	29664536	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:29664535_29664536delGA	ENST00000358273.4	+	43	6960_6961	c.6577_6578delGA	c.(6577-6579)gagfs	p.E2193fs	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Frame_Shift_Del_p.E2172fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2193					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E2193fs*48(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTCCTATGAGAGAGAGACT	0.421			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.E2193fs*48(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6577-6579)gfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29664535_29664536delGA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6577_6578delGA	17.37:g.29664543_29664544delGA	ENSP00000351015:p.Glu2193fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.E2172fs	p.E2193fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	43	6960_6961	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2193					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6577_6578delGA	CCDS42292.1																																																																																				0.421	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		55	148						55	148	---	---	---	---
ACBD4	79777	broad.mit.edu	37	17	43214792	43214793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:43214792_43214793insC	ENST00000376955.4	+	6	770_771	c.473_474insC	c.(472-477)ctccccfs	p.LP158fs	ACBD4_ENST00000321854.8_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000431281.1_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000398322.3_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000592162.1_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000591859.1_Frame_Shift_Ins_p.LP158fs	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	158							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CCTCCCTGCCTCCCCAAGGAAC	0.629																																						ENST00000431281.1																			0				kidney(1)|lung(3)|ovary(1)	5						c.(472-474)cccfs		acyl-CoA binding domain containing 4																																				SO:0001589	frameshift_variant	79777						fatty-acyl-CoA binding	g.chr17:43214792_43214793insC	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.477dupC	17.37:g.43214796_43214796dupC	ENSP00000366154:p.Leu158fs					ACBD4_ENST00000321854.8_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000586346.1_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000591859.1_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000376955.4_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000592162.1_Frame_Shift_Ins_p.P158fs	p.P158fs	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN			8	942_943	+			158					D3DX64|Q8IUT1|Q9H8Q4	Frame_Shift_Ins	INS	ENST00000376955.4	37	c.473_474insC	CCDS45711.1																																																																																				0.629	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		18	43						18	43	---	---	---	---
RPS6KB1	6198	broad.mit.edu	37	17	58012656	58012656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:58012656delA	ENST00000225577.4	+	10	994	c.973delA	c.(973-975)aaafs	p.K326fs	RPS6KB1_ENST00000393021.3_Frame_Shift_Del_p.K273fs|RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.K303fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.K326fs	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGATCTGCTTAAAAAGGTAAG	0.338																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(973-975)aafs		ribosomal protein S6 kinase, 70kDa, polypeptide 1							42.0	40.0	41.0					17																	58012656		2203	4300	6503	SO:0001589	frameshift_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58012656delA	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.973delA	17.37:g.58012656delA	ENSP00000225577:p.Lys326fs					RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.K303fs|RPS6KB1_ENST00000393021.3_Frame_Shift_Del_p.K273fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.K326fs	p.K326fs	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		10	994	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		326			Protein kinase.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Frame_Shift_Del	DEL	ENST00000225577.4	37	c.973delA	CCDS11621.1																																																																																				0.338	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		29	58						29	58	---	---	---	---
HEATR6	63897	broad.mit.edu	37	17	58121377	58121378	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:58121377_58121378delCT	ENST00000184956.6	-	20	3108_3109	c.3092_3093delAG	c.(3091-3093)gagfs	p.E1031fs	AC005702.1_ENST00000581326.1_RNA|AC005702.2_ENST00000577558.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|MIR4737_ENST00000583979.1_RNA|HEATR6_ENST00000585976.1_Frame_Shift_Del_p.E919fs	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1031							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACCCGTACTGCTCTCTCTTCCC	0.505																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3091-3093)gfs		HEAT repeat containing 6																																				SO:0001589	frameshift_variant	63897						binding	g.chr17:58121377_58121378delCT	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3092_3093delAG	17.37:g.58121383_58121384delCT	ENSP00000184956:p.Glu1031fs					HEATR6_ENST00000585976.1_Frame_Shift_Del_p.E919fs	p.E1031fs	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3108_3109	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1031					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Frame_Shift_Del	DEL	ENST00000184956.6	37	c.3092_3093delAG	CCDS11623.1																																																																																				0.505	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		7	252						7	252	---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59999160	59999160	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:59999160delA	ENST00000444766.3	-	4	560	c.485delT	c.(484-486)ttcfs	p.F162fs	INTS2_ENST00000251334.6_Frame_Shift_Del_p.F154fs	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	162					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AGAAGACTTGAAAAAAAATTC	0.299																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(484-486)tcfs		integrator complex subunit 2							49.0	47.0	48.0					17																	59999160		1795	4062	5857	SO:0001589	frameshift_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59999160delA	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.485delT	17.37:g.59999160delA	ENSP00000414237:p.Phe162fs					INTS2_ENST00000251334.6_Frame_Shift_Del_p.F154fs	p.F162fs	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			4	560	-			162					Q9ULD3	Frame_Shift_Del	DEL	ENST00000444766.3	37	c.485delT	CCDS45750.1																																																																																				0.299	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		29	97						29	97	---	---	---	---
STRADA	92335	broad.mit.edu	37	17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:61781804delG	ENST00000336174.6	-	11	1109	c.997delC	c.(997-999)cggfs	p.R333fs	STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Frame_Shift_Del_p.R289fs|STRADA_ENST00000582137.1_Frame_Shift_Del_p.R304fs|STRADA_ENST00000392950.4_Frame_Shift_Del_p.R296fs|STRADA_ENST00000375840.4_Frame_Shift_Del_p.R275fs|RP11-51F16.8_ENST00000580553.1_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGAGGGCCGGGGGGTGCTG	0.647																																						ENST00000392950.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(886-888)ggfs		STE20-related kinase adaptor alpha							30.0	31.0	31.0					17																	61781804		2202	4300	6502	SO:0001589	frameshift_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61781804delG	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.997delC	17.37:g.61781804delG	ENSP00000336655:p.Arg333fs					STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Frame_Shift_Del_p.R289fs|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Frame_Shift_Del_p.R333fs|STRADA_ENST00000375840.4_Frame_Shift_Del_p.R275fs|STRADA_ENST00000582137.1_Frame_Shift_Del_p.R304fs	p.R296fs	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN			9	1159	-			333			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Frame_Shift_Del	DEL	ENST00000336174.6	37	c.886delC	CCDS32703.1																																																																																				0.647	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			18	42						18	42	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394955	74394957	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:74394955_74394957delGTT	ENST00000319380.7	-	10	1808_1810	c.1744_1746delAAC	c.(1744-1746)aacdel	p.N582del	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	582					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCAGAACTCGTTGTTGTCCAGG	0.611																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1744-1746)del		ubiquitin-conjugating enzyme E2O																																				SO:0001651	inframe_deletion	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74394955_74394957delGTT	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1744_1746delAAC	17.37:g.74394958_74394960delGTT	ENSP00000323687:p.Asn582del					UBE2O_ENST00000587581.1_5'UTR	p.N582del	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			10	1808_1810	-			582					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	In_Frame_Del	DEL	ENST00000319380.7	37	c.1744_1746delAAC	CCDS32742.1																																																																																				0.611	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		7	345						7	345	---	---	---	---
SOCS3	9021	broad.mit.edu	37	17	76354878	76354878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76354878delC	ENST00000330871.2	-	2	714	c.299delG	c.(298-300)ggcfs	p.G100fs	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	100	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGAGAAGCTGCCCCCCTCACA	0.647																																						ENST00000330871.2																			0				kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6						c.(298-300)gcfs		suppressor of cytokine signaling 3							37.0	36.0	36.0					17																	76354878		2202	4300	6502	SO:0001589	frameshift_variant	9021				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354878delC	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.299delG	17.37:g.76354878delC	ENSP00000330341:p.Gly100fs						p.G100fs	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	714	-			100			SH2.		O14509	Frame_Shift_Del	DEL	ENST00000330871.2	37	c.299delG	CCDS11756.1																																																																																				0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			8	25						8	25	---	---	---	---
PIGN	23556	broad.mit.edu	37	18	59814310	59814310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:59814310delT	ENST00000357637.5	-	9	1114	c.699delA	c.(697-699)aaafs	p.K233fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.K233fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	233					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CATCATCAACTTTTTTAATAT	0.303																																						ENST00000357637.5																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(697-699)aafs		phosphatidylinositol glycan anchor biosynthesis, class N							70.0	63.0	65.0					18																	59814310		1804	4068	5872	SO:0001589	frameshift_variant	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59814310delT	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.699delA	18.37:g.59814310delT	ENSP00000350263:p.Lys233fs					PIGN_ENST00000400334.3_Frame_Shift_Del_p.K233fs	p.K233fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN			9	1114	-		Colorectal(73;0.187)	233					Q7L8F8|Q8TC01|Q9NT05	Frame_Shift_Del	DEL	ENST00000357637.5	37	c.699delA	CCDS45879.1																																																																																				0.303	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		22	36						22	36	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895513	77895513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:77895513delA	ENST00000262198.4	+	4	2672	c.2217delA	c.(2215-2217)ctafs	p.L739fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	739					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CACCATTTCTAAAGTGGATGA	0.502																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2215-2217)ctfs		ADNP homeobox 2							157.0	153.0	154.0					18																	77895513		2203	4300	6503	SO:0001589	frameshift_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895513delA	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2217delA	18.37:g.77895513delA	ENSP00000262198:p.Leu739fs						p.L739fs	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2672	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	739					A8K951|O94943|Q9H9P3	Frame_Shift_Del	DEL	ENST00000262198.4	37	c.2217delA	CCDS32853.1																																																																																				0.502	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		77	136						77	136	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059693	9059701	+	In_Frame_Del	DEL	TGTGGCCTT	TGTGGCCTT	-	rs376062753		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:9059693_9059701delTGTGGCCTT	ENST00000397910.4	-	3	27948_27956	c.27745_27753delAAGGCCACA	c.(27745-27753)aaggccacadel	p.KAT9249del		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9251	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATTGAAGATGTGGCCTTTGTTGTCACT	0.45																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27745-27753)del		mucin 16, cell surface associated																																				SO:0001651	inframe_deletion	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059693_9059701delTGTGGCCTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27745_27753delAAGGCCACA	19.37:g.9059693_9059701delTGTGGCCTT	ENSP00000381008:p.Lys9249_Thr9251del						p.KAT9249del	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27948_27956	-			9251			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	c.27745_27753delAAGGCCACA	CCDS54212.1																																																																																				0.450	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	53						37	53	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18329753	18329753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:18329753delA	ENST00000355502.3	-	13	1933	c.1062delT	c.(1060-1062)tttfs	p.F354fs	PDE4C_ENST00000262805.12_Frame_Shift_Del_p.F322fs|PDE4C_ENST00000447275.3_Frame_Shift_Del_p.F248fs|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Frame_Shift_Del_p.F123fs|PDE4C_ENST00000598111.2_Frame_Shift_Del_p.F124fs|PDE4C_ENST00000594617.3_Frame_Shift_Del_p.F354fs|PDE4C_ENST00000597297.1_Frame_Shift_Del_p.F124fs|PDE4C_ENST00000594465.3_Frame_Shift_Del_p.F354fs			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	354					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TAGGTACCTGAAAAATGCTGA	0.507																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1060-1062)ttfs		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						84.0	81.0	82.0					19																	18329753		2203	4300	6503	SO:0001589	frameshift_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18329753delA		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1062delT	19.37:g.18329753delA	ENSP00000347689:p.Phe354fs					PDE4C_ENST00000447275.2_Frame_Shift_Del_p.F248fs|PDE4C_ENST00000594617.2_Frame_Shift_Del_p.F354fs|PDE4C_ENST00000262805.11_Frame_Shift_Del_p.F322fs|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Frame_Shift_Del_p.F123fs|PDE4C_ENST00000594465.2_Frame_Shift_Del_p.F354fs	p.F354fs			Q08493	PDE4C_HUMAN			13	1933	-			354					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Del	DEL	ENST00000355502.3	37	c.1062delT	CCDS12373.1																																																																																				0.507	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			53	98						53	98	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:18887993delC	ENST00000321949.8	+	14	1732	c.1706delC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.S585fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637																																						ENST00000338797.6																		CRTC1/MAML2(516)	2	Deletion - Frameshift(2)	p.S572fs*6(2)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1753-1755)tcfs		CREB regulated transcription coactivator 1			,	36,4218		5,26,2096	32.0	37.0	35.0		,	3.8	1.0	19		34	39,8205		5,29,4088	no	frameshift,frameshift	CRTC1	NM_015321.2,NM_001098482.1	,	10,55,6184	A1A1,A1R,RR		0.4731,0.8463,0.6001	,	,	18887993	75,12423	2201	4298	6499	SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18887993delC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1706delC	19.37:g.18887993delC	ENSP00000323332:p.Ser569fs					CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S569fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs	p.S585fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1779	+			569						Frame_Shift_Del	DEL	ENST00000321949.8	37	c.1754delC	CCDS32963.1																																																																																				0.637	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		29	49						29	49	---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36883652	36883655	+	Frame_Shift_Del	DEL	TACA	TACA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36883652_36883655delTACA	ENST00000392161.3	-	5	1829_1832	c.1587_1590delTGTA	c.(1585-1590)aatgtafs	p.NV529fs	ZFP82_ENST00000392171.1_Frame_Shift_Del_p.NV529fs	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTAGATTTTTACATTATGAATTT	0.333																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1585-1590)aafs		ZFP82 zinc finger protein																																				SO:0001589	frameshift_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883652_36883655delTACA	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1587_1590delTGTA	19.37:g.36883652_36883655delTACA	ENSP00000431265:p.Asn529fs					ZFP82_ENST00000392171.1_Frame_Shift_Del_p.NV529fs	p.NV529fs	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1829_1832	-			529					Q8NC63|Q8TF53	Frame_Shift_Del	DEL	ENST00000392161.3	37	c.1587_1590delTGTA	CCDS12493.1																																																																																				0.333	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		35	66						35	66	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39914446	39914446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:39914446delC	ENST00000409794.3	+	19	3523	c.2673delC	c.(2671-2673)gtcfs	p.V891fs	PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.V832fs|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.V862fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	891					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGAGTCTGTCCCCCTGGGTC	0.572																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2584-2586)gtfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							101.0	82.0	88.0					19																	39914446		2203	4300	6503	SO:0001589	frameshift_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914446delC	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2673delC	19.37:g.39914446delC	ENSP00000386733:p.Val891fs					PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.V832fs|PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.V891fs|PLEKHG2_ENST00000378550.1_Intron	p.V862fs			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	2911	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		891					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	c.2586delC	CCDS33022.2																																																																																				0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		41	62						41	62	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		7	177						7	177	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49641637	49641637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49641637delC	ENST00000334186.4	+	16	2378	c.2029delC	c.(2029-2031)cccfs	p.P677fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.P677fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	677					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCACTCAACACCCCGCCTGGC	0.682																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2029-2031)ccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							30.0	33.0	32.0					19																	49641637		2203	4298	6501	SO:0001589	frameshift_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49641637delC	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2029delC	19.37:g.49641637delC	ENSP00000335614:p.Pro677fs					PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.P677fs	p.P677fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	16	2378	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	677					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Del	DEL	ENST00000334186.4	37	c.2029delC	CCDS12758.1																																																																																				0.682	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		17	77						17	77	---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50381462	50381465	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50381462_50381465delCTCT	ENST00000221543.5	+	2	383_386	c.84_87delCTCT	c.(82-87)gactctfs	p.DS28fs	AKT1S1_ENST00000391831.1_5'Flank|AKT1S1_ENST00000344175.5_5'Flank|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000391832.3_5'Flank|AKT1S1_ENST00000391833.1_5'Flank|AKT1S1_ENST00000482622.1_5'UTR|TBC1D17_ENST00000535102.2_Intron|AKT1S1_ENST00000391834.2_5'Flank|AKT1S1_ENST00000391835.1_5'Flank	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	28					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGGACCGAGACTCTCTCATCGCTG	0.642																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(82-87)gafs		TBC1 domain family, member 17																																				SO:0001589	frameshift_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50381462_50381465delCTCT	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.84_87delCTCT	19.37:g.50381462_50381465delCTCT	ENSP00000221543:p.Asp28fs					TBC1D17_ENST00000535102.2_Intron|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000482622.1_5'UTR	p.DS28fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	2	383_386	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	28					B4DT12|B9A6L8|F5H1W7	Frame_Shift_Del	DEL	ENST00000221543.5	37	c.84_87delCTCT	CCDS12785.1																																																																																				0.642	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		4	9						4	9	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54651965	54651966	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:54651965_54651966insC	ENST00000406403.1	+	10	2580_2581	c.977_978insC	c.(976-981)ggccccfs	p.GP326fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.GP326fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.GP145fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	326	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACCCCTCCGGCCCCCCGCCTG	0.693																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(976-978)gccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54651965_54651966insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.983dupC	19.37:g.54651971_54651971dupC	ENSP00000383954:p.Gly326fs					CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.A145fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.A326fs	p.A326fs			O75175	CNOT3_HUMAN			10	2580_2581	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		326			Pro-rich.		Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.977_978insC	CCDS12880.1																																																																																				0.693	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		5	5						5	5	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6025250	6025250	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:6025250delG	ENST00000378858.4	-	4	1161	c.937delC	c.(937-939)ctcfs	p.L313fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	313					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCAAGTGAGGGGGTTGCCA	0.478																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(937-939)tcfs		leucine rich repeat neuronal 4							61.0	57.0	58.0					20																	6025250		2203	4300	6503	SO:0001589	frameshift_variant	164312					integral to membrane		g.chr20:6025250delG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.937delC	20.37:g.6025250delG	ENSP00000368135:p.Leu313fs						p.L313fs	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			4	1161	-			313					A8K258|Q5JWV6|Q9H419	Frame_Shift_Del	DEL	ENST00000378858.4	37	c.937delC	CCDS13097.1																																																																																				0.478	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		14	48						14	48	---	---	---	---
CPNE1	8904	broad.mit.edu	37	20	34219276	34219277	+	Splice_Site	DEL	CC	CC	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:34219276_34219277delCC	ENST00000317619.3	-	11	1109	c.715delGG	c.(715-717)ggc>gc	p.G239fs	CPNE1_ENST00000397446.1_Splice_Site_p.G239fs|CPNE1_ENST00000397443.1_Splice_Site_p.G239fs|CPNE1_ENST00000397442.1_Splice_Site_p.G239fs|CPNE1_ENST00000352393.4_Splice_Site_p.G239fs|CPNE1_ENST00000397445.1_Splice_Site_p.G239fs|CPNE1_ENST00000317677.5_Splice_Site_p.G244fs			Q99829	CPNE1_HUMAN	copine I	239					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCAAACTCAGCCTGGTGAGGAC	0.47																																						ENST00000317619.3																			0				breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.e11-1		copine I																																				SO:0001630	splice_region_variant	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34219276_34219277delCC	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.715-1GG>-	20.37:g.34219276_34219277delCC						CPNE1_ENST00000317677.5_Splice_Site_p.244_splice|CPNE1_ENST00000397442.1_Splice_Site_p.239_splice|CPNE1_ENST00000397446.1_Splice_Site_p.239_splice|CPNE1_ENST00000397443.1_Splice_Site_p.239_splice|CPNE1_ENST00000397445.1_Splice_Site_p.239_splice|CPNE1_ENST00000352393.4_Splice_Site_p.239_splice	p.239_splice			Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		11	1109	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		239					E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Splice_Site	DEL	ENST00000317619.3	37	c.714_splice	CCDS13260.1																																																																																				0.470	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	Frame_Shift_Del	43	137						43	137	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577																																						ENST00000373448.2																			1	Deletion - Frameshift(1)	p.L924fs*37(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2770-2772)tgfs		TELO2 interacting protein 1							76.0	73.0	74.0					20																	36627613		2203	4300	6503	SO:0001589	frameshift_variant	9675						binding	g.chr20:36627613delG	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs					TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs|TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs	p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			6	3008	-			924					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	ENST00000373448.2	37	c.2770delC	CCDS13300.1																																																																																				0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		29	105						29	105	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37547271	37547272	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:37547271_37547272delAT	ENST00000299824.1	+	11	1855_1856	c.1666_1667delAT	c.(1666-1668)atgfs	p.M556fs	PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.M514fs	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	556					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CATAGAGGAGATGGAGGAGAAG	0.574																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1666-1668)gfs		protein phosphatase 1, regulatory subunit 16B																																				SO:0001589	frameshift_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547271_37547272delAT	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1666_1667delAT	20.37:g.37547271_37547272delAT	ENSP00000299824:p.Met556fs					PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.M514fs	p.M556fs	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1855_1856	+		Myeloproliferative disorder(115;0.00878)	556					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Frame_Shift_Del	DEL	ENST00000299824.1	37	c.1666_1667delAT	CCDS13309.1																																																																																				0.574	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		15	55						15	55	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50140530	50140531	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:50140530_50140531insG	ENST00000396009.3	-	2	468_469	c.249_250insC	c.(247-252)cccggcfs	p.G84fs	NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.G64fs|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Frame_Shift_Ins_p.G84fs|NFATC2_ENST00000609943.1_Frame_Shift_Ins_p.G64fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	84					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCGAATCGGCCGGGGGGCTCGC	0.663																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(247-252)ccgccgfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2																																				SO:0001589	frameshift_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140530_50140531insG	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.250dupC	20.37:g.50140536_50140536dupG	ENSP00000379330:p.Gly84fs					NFATC2_ENST00000396009.3_Frame_Shift_Ins_p.P84fs|NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.P64fs	p.P84fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	468_469	-	Hepatocellular(150;0.248)		84					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Ins	INS	ENST00000396009.3	37	c.249_250insC	CCDS13437.1																																																																																				0.663	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		23	111						23	111	---	---	---	---
RBBP8NL	140893	broad.mit.edu	37	20	60989485	60989485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:60989485delG	ENST00000252998.1	-	10	1078	c.922delC	c.(922-924)ctgfs	p.L308fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	308						extracellular space (GO:0005615)											GCAGGGGCCAGGGGGCTGCTG	0.697																																						ENST00000252998.1																			0											c.(922-924)tgfs		RBBP8 N-terminal like							3.0	4.0	4.0					20																	60989485		1429	3053	4482	SO:0001589	frameshift_variant	140893							g.chr20:60989485delG	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.922delC	20.37:g.60989485delG	ENSP00000252998:p.Leu308fs						p.L308fs	NM_080833.2	NP_543023.2					10	1078	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.922delC	CCDS13498.1																																																																																				0.697	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		7	6						7	6	---	---	---	---
ZNF280B	140883	broad.mit.edu	37	22	22842771	22842771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:22842771delT	ENST00000406426.1	-	4	1695	c.953delA	c.(952-954)aatfs	p.N318fs	ZNF280B_ENST00000360412.2_Frame_Shift_Del_p.N318fs			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAACTTAACATTTTTTAGAAC	0.463																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(952-954)atfs		zinc finger protein 280B							139.0	130.0	133.0					22																	22842771		2203	4300	6503	SO:0001589	frameshift_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842771delT	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.953delA	22.37:g.22842771delT	ENSP00000385998:p.Asn318fs					ZNF280B_ENST00000406426.1_Frame_Shift_Del_p.N318fs	p.N318fs	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1728	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	318						Frame_Shift_Del	DEL	ENST00000406426.1	37	c.953delA	CCDS13799.1																																																																																				0.463	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		17	243						17	243	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38258975	38258975	+	Splice_Site	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:38258975delG	ENST00000412331.2	+	6	1017		c.e6-1		EIF3L_ENST00000406934.1_Splice_Site|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTCTTTACAGGGGGGACCTT	0.383																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e6-1		eukaryotic translation initiation factor 3, subunit L							84.0	84.0	84.0					22																	38258975		2203	4300	6503	SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38258975delG	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.436-1G>-	22.37:g.38258975delG						EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Splice_Site		NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			6	1017	+									Splice_Site	DEL	ENST00000412331.2	37		CCDS13960.1																																																																																				0.383	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Intron	69	55						69	55	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:46931227delC	ENST00000262738.3	-	1	1840	c.1841delG	c.(1840-1842)ggcfs	p.G615fs	CELSR1_ENST00000395964.1_Frame_Shift_Del_p.G615fs|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	615	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTGCCGCCCCCCAGAAA	0.657																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1840-1842)gcfs		cadherin, EGF LAG seven-pass G-type receptor 1							24.0	26.0	25.0					22																	46931227		2203	4296	6499	SO:0001589	frameshift_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931227delC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1841delG	22.37:g.46931227delC	ENSP00000262738:p.Gly615fs					CELSR1_ENST00000395964.1_Frame_Shift_Del_p.G615fs	p.G615fs	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1840	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	615			Cadherin 4.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	ENST00000262738.3	37	c.1841delG	CCDS14076.1																																																																																				0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		19	18						19	18	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38145101	38145101	+	Intron	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:38145101delC	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Del_p.E1051fs|RPGR_ENST00000342811.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttctccttccccctccttt	0.542																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(3151-3153)aafs		retinitis pigmentosa GTPase regulator							222.0	162.0	182.0					X																	38145101		2200	4298	6498	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38145101delC	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1245G>-	X.37:g.38145101delC						RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron	p.E1051fs	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			15	3327	-			840					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37	c.3151delG																																																																																					0.542	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		44	50						44	50	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821591	151821591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:151821591delC	ENST00000370306.2	+	9	1766	c.1746delC	c.(1744-1746)tgcfs	p.C582fs		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGATAGTTGCCCCCCAAGCC	0.517																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1744-1746)tgfs		gamma-aminobutyric acid (GABA) A receptor, theta							109.0	94.0	99.0					X																	151821591		2203	4300	6503	SO:0001589	frameshift_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821591delC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1746delC	X.37:g.151821591delC	ENSP00000359329:p.Cys582fs						p.C582fs	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1766	+	Acute lymphoblastic leukemia(192;6.56e-05)		582					A6NFN1|Q32MB4|Q9NZK8	Frame_Shift_Del	DEL	ENST00000370306.2	37	c.1746delC	CCDS14707.1																																																																																				0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		50	76						50	76	---	---	---	---
BRCC3	79184	broad.mit.edu	37	X	154344352	154344353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:154344352_154344353insA	ENST00000369462.1	+	9	669_670	c.644_645insA	c.(643-648)ccaatcfs	p.I216fs	BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.I216fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.I192fs|BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.I191fs|BRCC3_ENST00000369459.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	216					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCGAAATCCCAATCCATATTG	0.436																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(643-645)catfs		BRCA1/BRCA2-containing complex, subunit 3																																				SO:0001589	frameshift_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154344352_154344353insA	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.646dupA	X.37:g.154344354_154344354dupA	ENSP00000358474:p.Ile216fs					BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.H190fs|BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.H191fs|BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.H215fs|MTCP1_ENST00000362018.2_Intron	p.H215fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			9	669_670	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		215					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Frame_Shift_Ins	INS	ENST00000369462.1	37	c.644_645insA	CCDS56611.1																																																																																				0.436	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		36	27						36	27	---	---	---	---
