#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
CEP44	80817	broad.mit.edu	37	4	175220309	175220309	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:175220309C>G	ENST00000503780.1	+	3	451	c.37C>G	c.(37-39)Cta>Gta	p.L13V	CEP44_ENST00000296519.4_Missense_Mutation_p.L13V|CEP44_ENST00000457424.2_Missense_Mutation_p.L13V|CEP44_ENST00000426172.1_Missense_Mutation_p.L13V	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	13						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CTTACGGAACCTAGAACAGGT	0.363																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(37-39)Cta>Gta		centrosomal protein 44kDa							103.0	104.0	103.0					4																	175220309		2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175220309C>G	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.37C>G	4.37:g.175220309C>G	ENSP00000423153:p.Leu13Val					CEP44_ENST00000296519.4_Missense_Mutation_p.L13V|CEP44_ENST00000457424.2_Missense_Mutation_p.L13V|CEP44_ENST00000426172.1_Missense_Mutation_p.L13V	p.L13V	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			3	451	+			13					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.37C>G	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994304	0.54041	.	.	ENSG00000164118	ENST00000503780;ENST00000505124;ENST00000457424;ENST00000514712;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	T;T;T;T;T	0.64991	-0.08;-0.13;-0.13;-0.13;-0.08	5.18	1.32	0.21799	.	0.215501	0.31082	N	0.008289	T	0.47488	0.1448	L	0.54323	1.7	0.35490	D	0.798898	P;P	0.46142	0.873;0.703	B;B	0.40101	0.319;0.319	T	0.52741	-0.8535	10	0.51188	T	0.08	.	0.9398	0.01353	0.1817:0.3671:0.1204:0.3308	.	13;13	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	V	13	ENSP00000423153:L13V;ENSP00000389427:L13V;ENSP00000421128:L13V;ENSP00000408221:L13V;ENSP00000296519:L13V	ENSP00000296519:L13V	L	+	1	2	CEP44	175456884	0.064000	0.20934	0.998000	0.56505	0.993000	0.82548	0.175000	0.16762	0.215000	0.20761	0.585000	0.79938	CTA		0.363	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		4	36	0	0	0	1	0	4	36				
ARHGAP28	79822	broad.mit.edu	37	18	6870608	6870608	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr18:6870608G>C	ENST00000383472.4	+	7	935	c.831G>C	c.(829-831)aaG>aaC	p.K277N	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K118N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K225N|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K118N|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.K118N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K277N|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K100N|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K113N			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	277					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTCTGGAAAAGAACATTCCAC	0.294																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(352-354)aaG>aaC		Rho GTPase activating protein 28							65.0	72.0	70.0					18																	6870608		2203	4298	6501	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6870608G>C	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.831G>C	18.37:g.6870608G>C	ENSP00000372964:p.Lys277Asn					ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K118N|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K100N|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K113N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K277N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K118N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K225N|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.K277N	p.K118N	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			6	571	+		Colorectal(10;0.168)	100					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.354G>C		.	.	.	.	.	.	.	.	.	.	G	16.86	3.238151	0.58886	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09073	3.15;3.11;3.1;3.09;3.1;3.02	5.43	1.58	0.23477	.	0.248368	0.40302	N	0.001128	T	0.12774	0.0310	L	0.55481	1.735	0.32700	N	0.513032	P;P;P;P	0.46327	0.872;0.804;0.876;0.793	B;P;P;P	0.52909	0.326;0.521;0.713;0.452	T	0.11542	-1.0583	10	0.35671	T	0.21	.	5.7665	0.18229	0.3658:0.0:0.5053:0.1289	.	277;109;118;225	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	N	277;225;118;113;118;118;109;100	ENSP00000382963:K277N;ENSP00000262227:K225N;ENSP00000392660:K118N;ENSP00000437262:K113N;ENSP00000313506:K118N;ENSP00000406907:K118N	ENSP00000262227:K225N	K	+	3	2	ARHGAP28	6860608	1.000000	0.71417	0.977000	0.42913	0.842000	0.47809	1.305000	0.33493	0.352000	0.24053	-0.182000	0.12963	AAG		0.294	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		4	65	0	0	0	1	0	4	65				
SLC17A6	57084	broad.mit.edu	37	11	22387132	22387132	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:22387132T>A	ENST00000263160.3	+	7	1225	c.788T>A	c.(787-789)gTg>gAg	p.V263E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	263					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGCTTTTGGTGTCTTATGAA	0.403																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(787-789)gTg>gAg		solute carrier family 17 (vesicular glutamate transporter), member 6							253.0	228.0	236.0					11																	22387132		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22387132T>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.788T>A	11.37:g.22387132T>A	ENSP00000263160:p.Val263Glu						p.V263E	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			7	1225	+			263					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.788T>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170389	0.78452	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59364	0.27	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	M	0.82323	2.585	0.80722	D	1	B	0.33694	0.421	P	0.49597	0.616	T	0.76764	-0.2839	10	0.62326	D	0.03	.	16.1449	0.81559	0.0:0.0:0.0:1.0	.	263	Q9P2U8	VGLU2_HUMAN	E	263;151	ENSP00000263160:V263E	ENSP00000263160:V263E	V	+	2	0	SLC17A6	22343708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.108000	0.64609	2.269000	0.75478	0.455000	0.32223	GTG		0.403	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		8	57	0	0	0	1	0	8	57				
CSMD3	114788	broad.mit.edu	37	8	113649233	113649233	+	Splice_Site	SNP	T	T	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:113649233T>G	ENST00000297405.5	-	22	3772	c.3528A>C	c.(3526-3528)gaA>gaC	p.E1176D	CSMD3_ENST00000352409.3_Splice_Site_p.E1176D|CSMD3_ENST00000343508.3_Splice_Site_p.E1136D|CSMD3_ENST00000455883.2_Splice_Site_p.E1072D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1176	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGGTTATATTCTGTAAATT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e22-1		CUB and Sushi multiple domains 3							110.0	106.0	107.0					8																	113649233		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113649233T>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3527-1A>C	8.37:g.113649233T>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice|CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice	p.E1176_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			22	3772	-			1176			CUB 6.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.3526_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748432	0.69533	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.56	0.364	0.16124	CUB (3);	0.000000	0.64402	D	0.000001	T	0.47985	0.1475	M	0.73753	2.245	0.27050	N	0.963819	D;D;D	0.71674	0.998;0.996;0.997	D;D;D	0.81914	0.995;0.989;0.968	T	0.43065	-0.9414	10	0.25106	T	0.35	.	10.2189	0.43186	0.0:0.3844:0.0:0.6156	.	1072;1176;1136	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	1136;1176;516;1072;1176	ENSP00000345799:E1136D;ENSP00000297405:E1176D;ENSP00000341558:E516D;ENSP00000412263:E1072D;ENSP00000343124:E1176D	ENSP00000297405:E1176D	E	-	3	2	CSMD3	113718409	0.982000	0.34865	0.997000	0.53966	0.988000	0.76386	0.156000	0.16382	-0.162000	0.10964	0.528000	0.53228	GAA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	7	84	0	0	0	1	0	7	84				
KPNA5	3841	broad.mit.edu	37	6	117043403	117043403	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:117043403C>G	ENST00000368564.1	+	9	1019	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q291E			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	288					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGATAAAATTCAAGCAGTCAT	0.368																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(871-873)Caa>Gaa		karyopherin alpha 5 (importin alpha 6)							124.0	111.0	116.0					6																	117043403		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117043403C>G	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.871C>G	6.37:g.117043403C>G	ENSP00000357552:p.Gln291Glu					KPNA5_ENST00000356348.1_Missense_Mutation_p.Q291E	p.Q291E			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	9	1019	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	288					B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.871C>G	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973562	0.74246	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70164	-0.46;-0.46	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.59878	0.2226	M	0.62088	1.915	0.58432	D	0.999994	P	0.40083	0.702	B	0.39706	0.307	T	0.62483	-0.6845	10	0.41790	T	0.15	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	288	O15131	IMA5_HUMAN	E	291	ENSP00000357552:Q291E;ENSP00000348704:Q291E	ENSP00000348704:Q291E	Q	+	1	0	KPNA5	117150096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.755000	0.94549	0.650000	0.86243	CAA		0.368	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		3	37	0	0	0	1	0	3	37				
FAM90A1	55138	broad.mit.edu	37	12	8374822	8374822	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:8374822G>C	ENST00000538603.1	-	7	1549	c.991C>G	c.(991-993)Ctc>Gtc	p.L331V	FAM90A1_ENST00000307435.6_Missense_Mutation_p.L331V	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	331							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGAGGTTGGAGATTCTCCGGG	0.647																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(991-993)Ctc>Gtc		family with sequence similarity 90, member A1							14.0	15.0	14.0					12																	8374822		2182	4278	6460	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374822G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.991C>G	12.37:g.8374822G>C	ENSP00000445418:p.Leu331Val					FAM90A1_ENST00000307435.6_Missense_Mutation_p.L331V	p.L331V	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1549	-			331					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.991C>G	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	7.791	0.711499	0.15239	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.22336	1.96;1.96	1.02	1.02	0.19986	.	.	.	.	.	T	0.17109	0.0411	L	0.52011	1.625	0.09310	N	1	P	0.38827	0.649	B	0.37601	0.254	T	0.14531	-1.0469	9	0.38643	T	0.18	-0.1208	5.4079	0.16332	0.0:0.0:1.0:0.0	.	331	Q86YD7	F90A1_HUMAN	V	331	ENSP00000307798:L331V;ENSP00000445418:L331V	ENSP00000307798:L331V	L	-	1	0	FAM90A1	8266089	0.002000	0.14202	0.009000	0.14445	0.008000	0.06430	-0.669000	0.05262	0.865000	0.35603	0.194000	0.17425	CTC		0.647	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		6	22	0	0	0	1	0	6	22				
DUOX2	50506	broad.mit.edu	37	15	45399636	45399636	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:45399636C>G	ENST00000603300.1	-	14	1802	c.1600G>C	c.(1600-1602)Gac>Cac	p.D534H	DUOX2_ENST00000389039.6_Missense_Mutation_p.D534H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	534	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTTCGGATGTCTTCAATCTCC	0.552																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1600-1602)Gac>Cac		dual oxidase 2							138.0	127.0	130.0					15																	45399636		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399636C>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1600G>C	15.37:g.45399636C>G	ENSP00000475084:p.Asp534His					DUOX2_ENST00000603300.1_Missense_Mutation_p.D534H	p.D534H			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	14	1985	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	534			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1600G>C	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724567	0.48833	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.64	4.73	0.59995	.	0.534882	0.22614	N	0.057797	T	0.49253	0.1546	L	0.39898	1.24	0.25951	N	0.982743	B;B	0.34264	0.08;0.446	B;P	0.46419	0.315;0.516	T	0.50398	-0.8833	9	0.66056	D	0.02	-8.0088	9.9651	0.41719	0.0:0.8469:0.0:0.1531	.	534;96	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	H	534	.	ENSP00000373691:D534H	D	-	1	0	DUOX2	43186928	0.194000	0.23325	0.998000	0.56505	0.882000	0.50991	0.785000	0.26830	1.407000	0.46875	0.655000	0.94253	GAC		0.552	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	87	0	0	0	1	0	11	87				
FAM135B	51059	broad.mit.edu	37	8	139165053	139165053	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:139165053G>A	ENST00000395297.1	-	13	1835	c.1665C>T	c.(1663-1665)gaC>gaT	p.D555D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	555										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGATTTTACGTCAATGTAGG	0.488										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1663-1665)gaC>gaT		family with sequence similarity 135, member B							89.0	88.0	88.0					8																	139165053		1931	4142	6073	SO:0001819	synonymous_variant	51059							g.chr8:139165053G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1665C>T	8.37:g.139165053G>A		HNSCC(54;0.14)					p.D555D	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1835	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		555					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1665C>T	CCDS6375.2																																																																																				0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	73	0	0	0	1	0	18	73				
SETDB1	9869	broad.mit.edu	37	1	150916415	150916415	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:150916415G>T	ENST00000271640.5	+	8	1085	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	SETDB1_ENST00000368962.2_Missense_Mutation_p.D299Y|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Missense_Mutation_p.M231I|SETDB1_ENST00000368969.4_Missense_Mutation_p.D299Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	299	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCTTTGATGATGGCTATGC	0.398																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(895-897)Gat>Tat		SET domain, bifurcated 1							191.0	170.0	177.0					1																	150916415		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150916415G>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.895G>T	1.37:g.150916415G>T	ENSP00000271640:p.Asp299Tyr					SETDB1_ENST00000368962.2_Missense_Mutation_p.D299Y|SETDB1_ENST00000368969.4_Missense_Mutation_p.D299Y|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Missense_Mutation_p.231_231insI	p.D299Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1085	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		299			Tudor 1.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.895G>T	CCDS44217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.764714|4.764714	0.90020|0.90020	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193;ENST00000413562|ENST00000368963	T;T;T;T;T|.	0.58652|.	0.32;0.32;0.32;0.32;0.32|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Tudor domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74129|0.74129	0.3676|0.3676	M|M	0.76170|0.76170	2.325|2.325	0.38122|0.38122	D|D	0.937894|0.937894	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.998;0.996|.	T|T	0.76969|0.76969	-0.2762|-0.2762	10|6	0.87932|0.87932	D|D	0|0	.|.	19.2299|19.2299	0.93834|0.93834	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	299;299;299;299;299|.	E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047|.	.;.;.;.;SETB1_HUMAN|.	Y|I	299;299;299;299;299;142|231	ENSP00000271640:D299Y;ENSP00000357958:D299Y;ENSP00000436148:D299Y;ENSP00000357965:D299Y;ENSP00000432348:D299Y|.	ENSP00000271640:D299Y|ENSP00000357959:M231I	D|M	+|+	1|3	0|0	SETDB1|SETDB1	149183039|149183039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.683000|8.683000	0.91236|0.91236	2.780000|2.780000	0.95670|0.95670	0.585000|0.585000	0.79938|0.79938	GAT|ATG		0.398	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			4	84	1	0	0.184627	1	0.186042	4	84				
POP1	10940	broad.mit.edu	37	8	99170478	99170478	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:99170478G>A	ENST00000401707.2	+	16	3135	c.3054G>A	c.(3052-3054)gcG>gcA	p.A1018A	POP1_ENST00000349693.3_Silent_p.A1018A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	1018					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCGATTTGCGAGGATTGCTA	0.507																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3052-3054)gcG>gcA		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							113.0	106.0	108.0					8																	99170478		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99170478G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.3054G>A	8.37:g.99170478G>A						POP1_ENST00000349693.3_Silent_p.A1018A	p.A1018A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	3135	+	Breast(36;1.78e-06)		1018					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.3054G>A	CCDS6277.1																																																																																				0.507	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	127	0	0	0	1	0	7	127				
ZSCAN20	7579	broad.mit.edu	37	1	33960196	33960196	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960196C>G	ENST00000361328.3	+	8	2405	c.2252C>G	c.(2251-2253)tCt>tGt	p.S751C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	751					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGTGACCGCTCTAACCTCAAT	0.458																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2251-2253)tCt>tGt		zinc finger and SCAN domain containing 20							89.0	100.0	96.0					1																	33960196		2150	4275	6425	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960196C>G	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2252C>G	1.37:g.33960196C>G	ENSP00000355053:p.Ser751Cys						p.S751C	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2405	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	751					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2252C>G	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328111	0.60743	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.107339	0.42294	D	0.000723	T	0.74604	0.3738	M	0.84773	2.715	0.09310	N	1	D;B	0.69078	0.997;0.248	D;B	0.63192	0.912;0.146	T	0.70443	-0.4870	9	0.87932	D	0	-6.2247	17.7603	0.88462	0.0:1.0:0.0:0.0	.	750;751	P17040-3;P17040	.;ZSC20_HUMAN	C	751;685;685	.	ENSP00000324450:S751C	S	+	2	0	ZSCAN20	33732783	0.001000	0.12720	0.958000	0.39756	0.888000	0.51559	0.856000	0.27818	2.786000	0.95864	0.561000	0.74099	TCT		0.458	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		7	94	0	0	0	1	0	7	94				
OR1L6	392390	broad.mit.edu	37	9	125512513	125512513	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:125512513C>T	ENST00000373684.1	+	1	495	c.495C>T	c.(493-495)aaC>aaT	p.N165N	OR1L6_ENST00000304720.2_Silent_p.N129N			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CCATCTGCAACCCCTTACACT	0.542																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(493-495)aaC>aaT		olfactory receptor, family 1, subfamily L, member 6							139.0	110.0	120.0					9																	125512513		2203	4300	6503	SO:0001819	synonymous_variant	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512513C>T		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.495C>T	9.37:g.125512513C>T						OR1L6_ENST00000304720.2_Silent_p.N129N	p.N165N			Q8NGR2	OR1L6_HUMAN			1	495	+			165					Q6IFM8|Q96R80	Silent	SNP	ENST00000373684.1	37	c.495C>T																																																																																					0.542	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				9	114	0	0	0	1	0	9	114				
WDR63	126820	broad.mit.edu	37	1	85559220	85559220	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:85559220A>T	ENST00000294664.6	+	9	1117	c.937A>T	c.(937-939)Acc>Tcc	p.T313S	WDR63_ENST00000326813.8_Missense_Mutation_p.T274S|WDR63_ENST00000370596.1_Missense_Mutation_p.T274S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	313										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGAAGAAGGCACCTTTGGGGA	0.413																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(937-939)Acc>Tcc		WD repeat domain 63							170.0	160.0	164.0					1																	85559220		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85559220A>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.937A>T	1.37:g.85559220A>T	ENSP00000294664:p.Thr313Ser					WDR63_ENST00000326813.8_Missense_Mutation_p.T274S|WDR63_ENST00000370596.1_Missense_Mutation_p.T274S	p.T313S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1117	+			313					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.937A>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	A	9.938	1.216746	0.22373	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.41400	1.01;1.01;1.0	5.72	3.38	0.38709	.	0.611298	0.18326	N	0.144658	T	0.09423	0.0232	L	0.41124	1.26	0.09310	N	1	B;B	0.32203	0.36;0.126	B;B	0.26416	0.069;0.032	T	0.30794	-0.9966	10	0.09843	T	0.71	-12.8764	5.6365	0.17540	0.6936:0.0:0.1843:0.1221	.	274;313	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	S	274;274;313	ENSP00000359628:T274S;ENSP00000317463:T274S;ENSP00000294664:T313S	ENSP00000294664:T313S	T	+	1	0	WDR63	85331808	0.023000	0.18921	0.995000	0.50966	0.714000	0.41099	0.767000	0.26575	0.425000	0.26087	0.477000	0.44152	ACC		0.413	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		5	68	0	0	0	1	0	5	68				
SNTG1	54212	broad.mit.edu	37	8	51621457	51621457	+	Silent	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:51621457T>C	ENST00000522124.1	+	17	1864	c.1203T>C	c.(1201-1203)taT>taC	p.Y401Y	SNTG1_ENST00000518864.1_Silent_p.Y401Y|SNTG1_ENST00000276467.5_Silent_p.Y401Y|SNTG1_ENST00000517473.1_Silent_p.Y401Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	401					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAAGACCTATGCATGTGTGC	0.363																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1201-1203)taT>taC		syntrophin, gamma 1							186.0	155.0	166.0					8																	51621457		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51621457T>C	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1203T>C	8.37:g.51621457T>C						SNTG1_ENST00000518864.1_Silent_p.Y401Y|SNTG1_ENST00000517473.1_Silent_p.Y401Y|SNTG1_ENST00000276467.5_Silent_p.Y401Y	p.Y401Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			17	1864	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	401					Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1203T>C	CCDS6147.1																																																																																				0.363	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			8	66	0	0	0	1	0	8	66				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	42	1	0	2.7689e-08	1	3.07266e-08	4	42				
HCN1	348980	broad.mit.edu	37	5	45262557	45262557	+	Silent	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:45262557G>T	ENST00000303230.4	-	8	2196	c.2139C>A	c.(2137-2139)gcC>gcA	p.A713A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	713					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGTTCGAGCGGCCAGAGGGC	0.657																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2137-2139)gcC>gcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							48.0	47.0	48.0					5																	45262557		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262557G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2139C>A	5.37:g.45262557G>T							p.A713A	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2196	-			713						Silent	SNP	ENST00000303230.4	37	c.2139C>A	CCDS3952.1																																																																																				0.657	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		3	40	1	0	0.00909568	1	0.00930803	3	40				
OR2J2	26707	broad.mit.edu	37	6	29141422	29141422	+	Nonsense_Mutation	SNP	A	A	T	rs556940268|rs201438710	byFrequency	TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:29141422A>T	ENST00000377167.2	+	1	112	c.10A>T	c.(10-12)Aaa>Taa	p.K4*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	4						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(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(10-12)Aaa>Taa		olfactory receptor, family 2, subfamily J, member 2		A	stop/LYS	1,3671		0,1,1835	105.0	102.0	103.0		10	-1.5	0.0	6		103	1,8157		0,1,4078	yes	stop-gained	OR2J2	NM_030905.2		0,2,5913	TT,TA,AA		0.0123,0.0272,0.0169		4/313	29141422	2,11828	1836	4079	5915	SO:0001587	stop_gained	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141422A>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.10A>T	6.37:g.29141422A>T	ENSP00000366372:p.Lys4*						p.K4*	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	112	+			4					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Nonsense_Mutation	SNP	ENST00000377167.2	37	c.10A>T	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297694	0.40694	2.72E-4	1.23E-4	ENSG00000204700	ENST00000377167	.	.	.	2.48	-1.47	0.08772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	3.9399	0.09323	0.4118:0.179:0.4092:0.0	.	.	.	.	X	4	.	ENSP00000366372:K4X	K	+	1	0	OR2J2	29249401	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	-0.521000	0.06426	-1.073000	0.02249	AAA		0.358	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			4	87	0	0	0	1	0	4	87				
PRAMEF11	440560	broad.mit.edu	37	1	12884817	12884817	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:12884817C>T	ENST00000535591.1	-	4	1489	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	432					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAGTATTGATCTGCCTCCAGG	0.458																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1294-1296)Gat>Aat		PRAME family member 11							40.0	32.0	34.0					1																	12884817		692	1590	2282	SO:0001583	missense	440560							g.chr1:12884817C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1294G>A	1.37:g.12884817C>T	ENSP00000439551:p.Asp432Asn						p.D432N	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1489	-			432						Missense_Mutation	SNP	ENST00000535591.1	37	c.1294G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.904125	0.00512	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.01335	5.04;5.0	1.52	0.363	0.16118	.	7.694860	0.00550	N	0.000253	T	0.01254	0.0041	N	0.20401	0.57	0.09310	N	1	B	0.15473	0.013	B	0.15484	0.013	T	0.47289	-0.9129	10	0.21014	T	0.42	.	3.1705	0.06550	0.0:0.2623:0.0:0.7377	.	432	O60813	PRA11_HUMAN	N	432;473;432	ENSP00000439551:D432N;ENSP00000391839:D432N	ENSP00000328783:D473N	D	-	1	0	PRAMEF11	12807404	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.455000	0.06762	0.081000	0.16988	-0.481000	0.04817	GAT		0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		33	119	0	0	0	1	0	33	119				
CEP152	22995	broad.mit.edu	37	15	49034200	49034200	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:49034200C>T	ENST00000380950.2	-	25	4120	c.3933G>A	c.(3931-3933)atG>atA	p.M1311I	CEP152_ENST00000399334.3_Missense_Mutation_p.M1255I|CEP152_ENST00000325747.5_Missense_Mutation_p.M1218I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1311					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)		AATATTTGCGCATCTTTCGGG	0.438																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3931-3933)atG>atA		centrosomal protein 152kDa							182.0	167.0	172.0					15																	49034200		1905	4118	6023	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49034200C>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.3933G>A	15.37:g.49034200C>T	ENSP00000370337:p.Met1311Ile					CEP152_ENST00000325747.5_Missense_Mutation_p.M1218I|CEP152_ENST00000399334.3_Missense_Mutation_p.M1255I	p.M1311I	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)	25	4120	-		all_lung(180;0.0428)	1255					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3933G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486602	0.84854	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.63417	-0.04;0.15;0.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.68593	2.085	0.80722	D	1	D;D;D	0.55800	0.973;0.973;0.973	P;P;P	0.56563	0.73;0.73;0.801	T	0.76058	-0.3098	10	0.66056	D	0.02	-21.4508	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1218;1311;1255	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	1311;1218;1255	ENSP00000370337:M1311I;ENSP00000321000:M1218I;ENSP00000382271:M1255I	ENSP00000321000:M1218I	M	-	3	0	CEP152	46821492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.469000	0.80959	2.861000	0.98227	0.655000	0.94253	ATG		0.438	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		6	111	0	0	0	1	0	6	111				
ZNF606	80095	broad.mit.edu	37	19	58490029	58490029	+	Silent	SNP	A	A	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:58490029A>T	ENST00000341164.4	-	7	2639	c.2019T>A	c.(2017-2019)atT>atA	p.I673I	ZNF606_ENST00000536132.1_Silent_p.I583I	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CACCAGTGTGAATTCTCCGAT	0.408																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2017-2019)atT>atA		zinc finger protein 606							93.0	88.0	89.0					19																	58490029		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490029A>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2019T>A	19.37:g.58490029A>T						ZNF606_ENST00000536132.1_Silent_p.I583I	p.I673I	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2639	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	673					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.2019T>A	CCDS12968.1																																																																																				0.408	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		11	76	0	0	0	1	0	11	76				
NBPF12	149013	broad.mit.edu	37	1	146398458	146398458	+	Silent	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:146398458G>T	ENST00000442909.2	+	7	1280	c.444G>T	c.(442-444)ctG>ctT	p.L148L	NBPF12_ENST00000446760.2_Silent_p.L148L|NBPF12_ENST00000309471.8_Silent_p.L73L			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						AAGAACAGCTGGCTGAGGGGT	0.587																																						ENST00000442909.2																			0				ovary(2)	2						c.(442-444)ctG>ctT		neuroblastoma breakpoint family, member 12																																				SO:0001819	synonymous_variant	149013							g.chr1:146398458G>T	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.444G>T	1.37:g.146398458G>T						NBPF12_ENST00000446760.2_Silent_p.L148L|NBPF12_ENST00000309471.8_Silent_p.L73L	p.L148L							7	1280	+								O95877	Silent	SNP	ENST00000442909.2	37	c.444G>T																																																																																					0.587	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		6	137	1	0	3.59834e-05	1	3.847e-05	6	137				
SP3	6670	broad.mit.edu	37	2	174820352	174820352	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:174820352C>T	ENST00000310015.6	-	4	1418	c.888G>A	c.(886-888)ttG>ttA	p.L296L	SP3_ENST00000455789.2_Silent_p.L243L|SP3_ENST00000418194.2_Silent_p.L228L|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	296					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTGTTTATCAAATGTCCGT	0.398																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(886-888)ttG>ttA		Sp3 transcription factor							106.0	109.0	108.0					2																	174820352		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820352C>T	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.888G>A	2.37:g.174820352C>T						SP3_ENST00000455789.2_Silent_p.L243L|SP3_ENST00000418194.2_Silent_p.L228L	p.L296L	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1418	-			296					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.888G>A	CCDS2254.1																																																																																				0.398	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		8	158	0	0	0	1	0	8	158				
PLCD4	84812	broad.mit.edu	37	2	219492879	219492879	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:219492879C>T	ENST00000450993.2	+	7	1239	c.900C>T	c.(898-900)ttC>ttT	p.F300F	PLCD4_ENST00000417849.1_Silent_p.F300F|PLCD4_ENST00000432688.1_Silent_p.F300F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	300	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCACTACTTCATCTGCTCTT	0.532																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(898-900)ttC>ttT		phospholipase C, delta 4							163.0	161.0	162.0					2																	219492879		2046	4200	6246	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219492879C>T	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.900C>T	2.37:g.219492879C>T						PLCD4_ENST00000417849.1_Silent_p.F300F|PLCD4_ENST00000432688.1_Silent_p.F300F	p.F300F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1239	+		Renal(207;0.0915)	300			PI-PLC X-box.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.900C>T	CCDS46516.1																																																																																				0.532	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			11	100	0	0	0	1	0	11	100				
PTPRD	5789	broad.mit.edu	37	9	8465607	8465607	+	Silent	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:8465607A>G	ENST00000381196.4	-	29	4116	c.3573T>C	c.(3571-3573)taT>taC	p.Y1191Y	PTPRD_ENST00000356435.5_Silent_p.Y1191Y|PTPRD_ENST00000397606.3_Silent_p.Y770Y|PTPRD_ENST00000397611.3_Silent_p.Y777Y|PTPRD_ENST00000537002.1_Silent_p.Y777Y|PTPRD_ENST00000360074.4_Silent_p.Y1178Y|PTPRD_ENST00000358503.5_Silent_p.Y1169Y|PTPRD_ENST00000355233.5_Silent_p.Y780Y|PTPRD_ENST00000486161.1_Silent_p.Y780Y|PTPRD_ENST00000397617.3_Silent_p.Y770Y|PTPRD_ENST00000540109.1_Silent_p.Y1191Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1191					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGCGGCAATATATGGCTTTA	0.423										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3571-3573)taT>taC		protein tyrosine phosphatase, receptor type, D							151.0	142.0	145.0					9																	8465607		2203	4299	6502	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465607A>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3573T>C	9.37:g.8465607A>G		TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Silent_p.Y770Y|PTPRD_ENST00000358503.5_Silent_p.Y1169Y|PTPRD_ENST00000356435.5_Silent_p.Y1191Y|PTPRD_ENST00000537002.1_Silent_p.Y777Y|PTPRD_ENST00000355233.5_Silent_p.Y780Y|PTPRD_ENST00000397611.3_Silent_p.Y777Y|PTPRD_ENST00000397617.3_Silent_p.Y770Y|PTPRD_ENST00000486161.1_Silent_p.Y780Y|PTPRD_ENST00000360074.4_Silent_p.Y1178Y|PTPRD_ENST00000540109.1_Silent_p.Y1191Y	p.Y1191Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	4116	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1191					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3573T>C	CCDS43786.1																																																																																				0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	81	0	0	0	1	0	6	81				
POU6F1	5463	broad.mit.edu	37	12	51585524	51585524	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:51585524C>T	ENST00000389243.4	-	10	1354	c.415G>A	c.(415-417)Gag>Aag	p.E139K	POU6F1_ENST00000550824.1_Missense_Mutation_p.E139K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E139K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						ATCCCATCCTCATCCAGACTT	0.542																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(415-417)Gag>Aag		POU class 6 homeobox 1							107.0	106.0	106.0					12																	51585524		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51585524C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.415G>A	12.37:g.51585524C>T	ENSP00000373895:p.Glu139Lys					POU6F1_ENST00000550824.1_Missense_Mutation_p.E139K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E139K	p.E139K			Q14863	PO6F1_HUMAN			10	1354	-			139			Gln/Pro-rich.|POU-specific.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.415G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278948	0.80692	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.87491	-2.26;-2.26;-2.26	5.28	5.28	0.74379	POU-specific (2);	0.157695	0.56097	D	0.000037	T	0.81880	0.4916	L	0.28400	0.85	0.54753	D	0.999987	B	0.29716	0.255	B	0.28011	0.085	T	0.80407	-0.1395	10	0.49607	T	0.09	.	17.6761	0.88232	0.0:1.0:0.0:0.0	.	139	Q14863	PO6F1_HUMAN	K	139	ENSP00000373895:E139K;ENSP00000330190:E139K;ENSP00000448389:E139K	ENSP00000330190:E139K	E	-	1	0	POU6F1	49871791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.476000	0.83614	0.561000	0.74099	GAG		0.542	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		6	105	0	0	0	1	0	6	105				
USP28	57646	broad.mit.edu	37	11	113679958	113679958	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:113679958G>C	ENST00000003302.4	-	17	2059	c.1991C>G	c.(1990-1992)tCa>tGa	p.S664*	USP28_ENST00000260188.5_Nonsense_Mutation_p.S664*|USP28_ENST00000544967.1_Nonsense_Mutation_p.S372*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S539*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	664					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATTTGATCTGATTCAGTTGG	0.428																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1990-1992)tCa>tGa		ubiquitin specific peptidase 28							246.0	255.0	252.0					11																	113679958		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679958G>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1991C>G	11.37:g.113679958G>C	ENSP00000003302:p.Ser664*					USP28_ENST00000260188.5_Nonsense_Mutation_p.S664*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S539*|USP28_ENST00000544967.1_Nonsense_Mutation_p.S372*	p.S664*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	17	2059	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	664					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.1991C>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	42	9.274732	0.99122	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.02	4.09	0.47781	.	0.536043	0.20888	N	0.083866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.2791	10.3171	0.43743	0.0949:0.0:0.9051:0.0	.	.	.	.	X	664;664;372;539	.	ENSP00000003302:S664X	S	-	2	0	USP28	113185168	0.985000	0.35326	0.105000	0.21289	0.582000	0.36321	5.538000	0.67193	1.292000	0.44672	0.655000	0.94253	TCA		0.428	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			16	253	0	0	0	1	0	16	253				
C12orf42	374470	broad.mit.edu	37	12	103795446	103795446	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:103795446G>A	ENST00000378113.2	-	3	311	c.86C>T	c.(85-87)cCt>cTt	p.P29L	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P29L|C12orf42_ENST00000315192.8_Missense_Mutation_p.P29L|C12orf42_ENST00000548048.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	29										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATATAGCAAGGGGATTTCTG	0.428																																						ENST00000378113.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(85-87)cCt>cTt		chromosome 12 open reading frame 42							72.0	76.0	75.0					12																	103795446		2157	4274	6431	SO:0001583	missense	374470							g.chr12:103795446G>A	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.86C>T	12.37:g.103795446G>A	ENSP00000367353:p.Pro29Leu					C12orf42_ENST00000315192.8_Missense_Mutation_p.P29L|C12orf42_ENST00000548883.1_Missense_Mutation_p.P29L|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548789.1_5'UTR	p.P29L	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN			3	311	-			29					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.86C>T	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	0.206	-1.040317	0.02013	.	.	ENSG00000179088	ENST00000315192;ENST00000548883;ENST00000378113;ENST00000552578	T;T;T;T	0.44881	0.91;1.55;1.55;1.53	5.0	1.8	0.24995	.	0.481828	0.15546	N	0.256718	T	0.21347	0.0514	N	0.19112	0.55	0.09310	N	1	B	0.23891	0.093	B	0.23018	0.043	T	0.27502	-1.0072	10	0.07813	T	0.8	0.1402	6.3296	0.21262	0.4215:0.0:0.5785:0.0	.	29	Q96LP6	CL042_HUMAN	L	29	ENSP00000324984:P29L;ENSP00000447908:P29L;ENSP00000367353:P29L;ENSP00000447795:P29L	ENSP00000324984:P29L	P	-	2	0	C12orf42	102319576	0.149000	0.22717	0.002000	0.10522	0.099000	0.18886	1.049000	0.30392	0.220000	0.20860	0.655000	0.94253	CCT		0.428	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		5	26	0	0	0	1	0	5	26				
ZSCAN20	7579	broad.mit.edu	37	1	33959020	33959020	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33959020C>G	ENST00000361328.3	+	7	1831	c.1678C>G	c.(1678-1680)Cct>Gct	p.P560A		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	560					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGGACATGCCCTTTCTATGA	0.597																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1678-1680)Cct>Gct		zinc finger and SCAN domain containing 20							81.0	85.0	84.0					1																	33959020		2083	4223	6306	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33959020C>G	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1678C>G	1.37:g.33959020C>G	ENSP00000355053:p.Pro560Ala						p.P560A	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			7	1831	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	560					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1678C>G	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	9.329	1.060164	0.19987	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.38	4.45	0.53987	.	0.101012	0.44483	N	0.000444	T	0.42337	0.1198	L	0.42632	1.34	0.33788	D	0.625138	B;B	0.24618	0.087;0.107	B;B	0.26693	0.043;0.072	T	0.48801	-0.9003	9	0.10636	T	0.68	-15.3289	12.5646	0.56301	0.0:0.8332:0.1668:0.0	.	559;560	P17040-3;P17040	.;ZSC20_HUMAN	A	560;494;494	.	ENSP00000324450:P560A	P	+	1	0	ZSCAN20	33731607	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	1.695000	0.37763	1.383000	0.46405	0.655000	0.94253	CCT		0.597	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		9	100	0	0	0	1	0	9	100				
SOWAHC	65124	broad.mit.edu	37	2	110373465	110373465	+	Missense_Mutation	SNP	C	C	T	rs147455127		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:110373465C>T	ENST00000356454.3	+	1	1555	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	467																	CTCTAGTGGACGTATAAAACC	0.597																																						ENST00000356454.3																			0											c.(1399-1401)Cgt>Tgt		sosondowah ankyrin repeat domain family member C		C	CYS/ARG	0,4406		0,0,2203	68.0	72.0	71.0		1399	2.8	0.7	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANKRD57	NM_023016.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	467/526	110373465	1,13005	2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373465C>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1399C>T	2.37:g.110373465C>T	ENSP00000365830:p.Arg467Cys						p.R467C	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1555	+			467					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1399C>T	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410420	0.62399	0.0	1.16E-4	ENSG00000198142	ENST00000356454	T	0.54866	0.55	4.84	2.82	0.32997	.	0.178842	0.36200	N	0.002737	T	0.57666	0.2069	L	0.29908	0.895	0.22754	N	0.998771	D	0.89917	1.0	D	0.68621	0.959	T	0.51694	-0.8673	10	0.72032	D	0.01	-17.1365	12.4467	0.55654	0.3969:0.6031:0.0:0.0	.	467	Q53LP3	ANR57_HUMAN	C	467	ENSP00000365830:R467C	ENSP00000365830:R467C	R	+	1	0	ANKRD57	109730754	0.013000	0.17824	0.712000	0.30502	0.896000	0.52359	0.119000	0.15626	1.215000	0.43411	0.561000	0.74099	CGT		0.597	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		5	65	0	0	0	1	0	5	65				
LRP12	29967	broad.mit.edu	37	8	105503752	105503752	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:105503752T>A	ENST00000276654.5	-	7	1837	c.1729A>T	c.(1729-1731)Aat>Tat	p.N577Y	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.N558Y	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	577					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCTCAGATTTTCCAAAACA	0.348																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1729-1731)Aat>Tat		low density lipoprotein receptor-related protein 12							43.0	46.0	45.0					8																	105503752		2202	4300	6502	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503752T>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1729A>T	8.37:g.105503752T>A	ENSP00000276654:p.Asn577Tyr					LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.N558Y	p.N577Y	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1837	-			577					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1729A>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547611	0.86022	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.95342	-2.55;-2.49;-3.68	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.96310	0.9228	10	0.87932	D	0	-27.7889	16.542	0.84395	0.0:0.0:0.0:1.0	.	558;577	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	Y	558;577;166	ENSP00000399148:N558Y;ENSP00000276654:N577Y;ENSP00000429305:N166Y	ENSP00000276654:N577Y	N	-	1	0	LRP12	105572928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.304000	0.77564	0.528000	0.53228	AAT		0.348	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		8	47	0	0	0	1	0	8	47				
GEMIN6	79833	broad.mit.edu	37	2	39008728	39008728	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:39008728G>A	ENST00000281950.3	+	3	314	c.198G>A	c.(196-198)caG>caA	p.Q66Q	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	66					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ATGCTGTGCAGACTGTTGAAA	0.463																																						ENST00000281950.2																			0				kidney(1)|large_intestine(3)|pancreas(1)	5						c.(196-198)caG>caA		gem (nuclear organelle) associated protein 6							103.0	98.0	99.0					2																	39008728		2203	4300	6503	SO:0001819	synonymous_variant	79833				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr2:39008728G>A	AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.198G>A	2.37:g.39008728G>A						GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	p.Q66Q	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN			3	314	+		all_hematologic(82;0.21)	66					B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Silent	SNP	ENST00000281950.3	37	c.198G>A	CCDS1799.1																																																																																				0.463	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			4	76	0	0	0	1	0	4	76				
NRP2	8828	broad.mit.edu	37	2	206580937	206580937	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:206580937G>A	ENST00000357785.5	+	3	303	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	NRP2_ENST00000412873.2_Missense_Mutation_p.R91Q|NRP2_ENST00000417189.1_Missense_Mutation_p.R91Q|NRP2_ENST00000272849.3_Missense_Mutation_p.R91Q|NRP2_ENST00000357118.4_Missense_Mutation_p.R91Q|NRP2_ENST00000540178.1_Missense_Mutation_p.R91Q|NRP2_ENST00000355117.4_Missense_Mutation_p.R91Q|NRP2_ENST00000540841.1_Missense_Mutation_p.R91Q|NRP2_ENST00000360409.3_Missense_Mutation_p.R91Q			Q99435	NELL2_HUMAN	neuropilin 2	0	Laminin G-like.					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						ATCGAGATTCGGGATGGGGAC	0.547																																						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.(271-273)cGg>cAg		neuropilin 2							149.0	136.0	141.0					2																	206580937		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.chr2:206580937G>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.272G>A	2.37:g.206580937G>A	ENSP00000350432:p.Arg91Gln					NRP2_ENST00000540841.1_Missense_Mutation_p.R91Q|NRP2_ENST00000417189.1_Missense_Mutation_p.R91Q|NRP2_ENST00000355117.4_Missense_Mutation_p.R91Q|NRP2_ENST00000412873.2_Missense_Mutation_p.R91Q|NRP2_ENST00000357118.4_Missense_Mutation_p.R91Q|NRP2_ENST00000272849.3_Missense_Mutation_p.R91Q|NRP2_ENST00000357785.5_Missense_Mutation_p.R91Q|NRP2_ENST00000540178.1_Missense_Mutation_p.R91Q	p.R91Q	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			3	1063	+			91			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.272G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942682	0.73672	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.56;1.28;1.28;1.28;1.28;1.28	6.06	5.19	0.71726	CUB (5);	0.105526	0.64402	D	0.000003	T	0.57784	0.2077	M	0.72894	2.215	0.58432	D	0.999999	D;D;P;D;D;D	0.76494	0.996;0.999;0.572;0.999;0.999;0.995	P;D;B;D;D;P	0.66979	0.875;0.944;0.079;0.948;0.948;0.88	T	0.59129	-0.7512	10	0.42905	T	0.14	-25.5989	15.3394	0.74284	0.0665:0.0:0.9335:0.0	.	91;91;91;91;91;91	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	Q	91	ENSP00000353582:R91Q;ENSP00000439658:R91Q;ENSP00000439261:R91Q;ENSP00000347238:R91Q;ENSP00000404279:R91Q;ENSP00000387519:R91Q;ENSP00000349632:R91Q;ENSP00000350432:R91Q;ENSP00000407626:R91Q;ENSP00000272849:R91Q	ENSP00000272849:R91Q	R	+	2	0	NRP2	206289182	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	3.981000	0.56902	1.585000	0.49928	-0.136000	0.14681	CGG		0.547	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			5	86	0	0	0	1	0	5	86				
UTP11L	51118	broad.mit.edu	37	1	38484941	38484941	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:38484941C>T	ENST00000373014.4	+	6	514	c.453C>T	c.(451-453)gtC>gtT	p.V151V	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	151					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTTTGATGTCGCAACTCACC	0.453																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(451-453)gtC>gtT		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							128.0	127.0	127.0					1																	38484941		2203	4300	6503	SO:0001819	synonymous_variant	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484941C>T	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.453C>T	1.37:g.38484941C>T						UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	p.V151V	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	514	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	151					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Silent	SNP	ENST00000373014.4	37	c.453C>T	CCDS429.1																																																																																				0.453	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		8	103	0	0	0	1	0	8	103				
IRX4	50805	broad.mit.edu	37	5	1879678	1879678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:1879678C>T	ENST00000505790.1	-	5	1132	c.676G>A	c.(676-678)Gag>Aag	p.E226K	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.E226K|IRX4_ENST00000513692.1_Missense_Mutation_p.E226K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	226	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		ccctcctcctcctcgccctcc	0.687																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(676-678)Gag>Aag		iroquois homeobox 4							31.0	31.0	31.0					5																	1879678		2201	4299	6500	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879678C>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.676G>A	5.37:g.1879678C>T	ENSP00000423161:p.Glu226Lys					IRX4_ENST00000513692.1_Missense_Mutation_p.E226K|IRX4_ENST00000231357.2_Missense_Mutation_p.E226K|IRX4_ENST00000505938.1_5'UTR	p.E226K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1132	-			226			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.676G>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481768	0.44147	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.67698	-0.28;-0.28;-0.28	4.17	3.3	0.37823	.	0.401640	0.25194	N	0.032432	T	0.60894	0.2304	L	0.49778	1.585	0.50171	D	0.999858	P	0.51057	0.941	P	0.44561	0.453	T	0.59332	-0.7474	10	0.37606	T	0.19	-8.2991	10.8495	0.46761	0.0:0.9051:0.0:0.0949	.	226	P78413	IRX4_HUMAN	K	226	ENSP00000231357:E226K;ENSP00000423161:E226K;ENSP00000424235:E226K	ENSP00000231357:E226K	E	-	1	0	IRX4	1932678	0.998000	0.40836	0.997000	0.53966	0.306000	0.27790	3.563000	0.53784	0.974000	0.38366	0.462000	0.41574	GAG		0.687	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		3	35	0	0	0	1	0	3	35				
C2orf71	388939	broad.mit.edu	37	2	29295589	29295589	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:29295589C>A	ENST00000331664.5	-	1	1538	c.1539G>T	c.(1537-1539)agG>agT	p.R513S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	513					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						AAGATTGTGGCCTTGAATGTG	0.542																																						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.(1537-1539)agG>agT		chromosome 2 open reading frame 71							73.0	76.0	75.0					2																	29295589		2055	4209	6264	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295589C>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1539G>T	2.37:g.29295589C>A	ENSP00000332809:p.Arg513Ser						p.R513S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1538	-			513						Missense_Mutation	SNP	ENST00000331664.5	37	c.1539G>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563130	0.65538	.	.	ENSG00000179270	ENST00000331664	T	0.41400	1.0	5.06	4.17	0.49024	.	0.063219	0.64402	D	0.000004	T	0.59891	0.2227	M	0.71581	2.175	0.32223	N	0.574976	D	0.89917	1.0	D	0.74348	0.983	T	0.69472	-0.5136	10	0.72032	D	0.01	-26.954	9.9	0.41342	0.0:0.8341:0.0:0.1659	.	513	A6NGG8	CB071_HUMAN	S	513	ENSP00000332809:R513S	ENSP00000332809:R513S	R	-	3	2	C2orf71	29149093	1.000000	0.71417	0.955000	0.39395	0.077000	0.17291	1.628000	0.37060	1.112000	0.41740	0.561000	0.74099	AGG		0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		12	89	1	0	0.000978159	1	0.00102492	12	89				
DSP	1832	broad.mit.edu	37	6	7585618	7585618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:7585618C>T	ENST00000379802.3	+	24	8464	c.8123C>T	c.(8122-8124)tCa>tTa	p.S2708L	DSP_ENST00000418664.2_Missense_Mutation_p.S2109L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2708	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				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)		AAGAAGATGTCAGCAGCAGAG	0.552																																						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.(8122-8124)tCa>tTa		desmoplakin							135.0	137.0	136.0					6																	7585618		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585618C>T	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.8123C>T	6.37:g.7585618C>T	ENSP00000369129:p.Ser2708Leu					DSP_ENST00000418664.2_Missense_Mutation_p.S2109L	p.S2708L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8464	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2708			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8123C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805340	0.70682	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	.	0.239135	0.29908	N	0.010895	D	0.84410	0.5466	M	0.69823	2.125	0.40659	D	0.982111	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.974	D	0.84571	0.0655	10	0.66056	D	0.02	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	2156;2708	Q4LE79;P15924	.;DESP_HUMAN	L	2708;2109	ENSP00000369129:S2708L;ENSP00000396591:S2109L	ENSP00000369129:S2708L	S	+	2	0	DSP	7530617	1.000000	0.71417	0.976000	0.42696	0.588000	0.36517	7.776000	0.85560	2.818000	0.97014	0.655000	0.94253	TCA		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		11	160	0	0	0	1	0	11	160				
NEK5	341676	broad.mit.edu	37	13	52676401	52676401	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:52676401C>G	ENST00000355568.4	-	10	776	c.637G>C	c.(637-639)Gtt>Ctt	p.V213L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATCTTCAGAACCAGCTGCTGT	0.388																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(637-639)Gtt>Ctt		NIMA-related kinase 5							123.0	141.0	135.0					13																	52676401		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676401C>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.637G>C	13.37:g.52676401C>G	ENSP00000347767:p.Val213Leu						p.V213L	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	776	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	213			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.637G>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992335	0.54041	.	.	ENSG00000197168	ENST00000355568	T	0.65364	-0.15	5.86	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.092112	0.45606	D	0.000354	T	0.54919	0.1888	N	0.05619	-0.005	0.37213	D	0.904903	D	0.58268	0.982	P	0.57846	0.828	T	0.63028	-0.6728	10	0.45353	T	0.12	.	11.6169	0.51094	0.0:0.808:0.125:0.067	.	213	Q6P3R8	NEK5_HUMAN	L	213	ENSP00000347767:V213L	ENSP00000347767:V213L	V	-	1	0	NEK5	51574402	1.000000	0.71417	0.999000	0.59377	0.109000	0.19521	2.900000	0.48687	0.799000	0.34018	0.563000	0.77884	GTT		0.388	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		12	133	0	0	0	1	0	12	133				
SPTBN4	57731	broad.mit.edu	37	19	41061990	41061990	+	Splice_Site	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:41061990C>T	ENST00000352632.3	+	25	5171	c.5085C>T	c.(5083-5085)agC>agT	p.S1695S	SPTBN4_ENST00000595535.1_Splice_Site_p.S1695S|SPTBN4_ENST00000598249.1_Splice_Site_p.S1695S|SPTBN4_ENST00000392023.1_Splice_Site_p.S371S|SPTBN4_ENST00000338932.3_Splice_Site_p.S1695S|SPTBN4_ENST00000392025.1_Splice_Site_p.S438S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1695					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)			CCCCCTTCAGCGAGCAGATCA	0.657																																						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.e25-1		spectrin, beta, non-erythrocytic 4							20.0	20.0	20.0					19																	41061990		2202	4300	6502	SO:0001630	splice_region_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.chr19:41061990C>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.5085-1C>T	19.37:g.41061990C>T						SPTBN4_ENST00000392023.1_Splice_Site_p.S371_splice|SPTBN4_ENST00000598249.1_Splice_Site_p.S1695_splice|SPTBN4_ENST00000595535.1_Splice_Site_p.S1695_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.S438_splice|SPTBN4_ENST00000338932.3_Splice_Site_p.S1695_splice	p.S1695_splice			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	5171	+			1695					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37	c.5084_splice	CCDS12559.1																																																																																				0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Silent	5	8	0	0	0	1	0	5	8				
SP3	6670	broad.mit.edu	37	2	174820724	174820724	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:174820724C>T	ENST00000310015.6	-	4	1046	c.516G>A	c.(514-516)gtG>gtA	p.V172V	SP3_ENST00000455789.2_Silent_p.V119V|SP3_ENST00000418194.2_Silent_p.V104V|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	172	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTGTGGTATCACTTGATATT	0.403																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(514-516)gtG>gtA		Sp3 transcription factor							243.0	236.0	239.0					2																	174820724		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820724C>T	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.516G>A	2.37:g.174820724C>T						SP3_ENST00000455789.2_Silent_p.V119V|SP3_ENST00000418194.2_Silent_p.V104V	p.V172V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1046	-			172			Transactivation domain (Gln-rich).		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.516G>A	CCDS2254.1																																																																																				0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		10	259	0	0	0	1	0	10	259				
UBE4B	10277	broad.mit.edu	37	1	10195049	10195049	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:10195049G>C	ENST00000253251.8	+	15	2481	c.1642G>C	c.(1642-1644)Gat>Cat	p.D548H	UBE4B_ENST00000377157.3_Missense_Mutation_p.D432H|UBE4B_ENST00000343090.6_Missense_Mutation_p.D677H					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCACAGACAGATGATAGATT	0.378																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1294-1296)Gat>Cat		ubiquitination factor E4B							69.0	68.0	68.0					1																	10195049		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10195049G>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1642G>C	1.37:g.10195049G>C	ENSP00000253251:p.Asp548His					UBE4B_ENST00000253251.8_Missense_Mutation_p.D548H|UBE4B_ENST00000343090.6_Missense_Mutation_p.D677H	p.D432H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	15	2355	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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)	677						Missense_Mutation	SNP	ENST00000253251.8	37	c.1294G>C	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068532	0.93950	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.46451	0.87;0.87;0.87	6.04	6.04	0.98038	Ubiquitin conjugation factor E4, core (1);	0.040653	0.85682	D	0.000000	T	0.66858	0.2832	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.74348	0.983;0.971;0.971	T	0.62595	-0.6821	10	0.41790	T	0.15	-24.4518	20.5836	0.99426	0.0:0.0:1.0:0.0	.	548;677;548	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	H	548;432;677	ENSP00000253251:D548H;ENSP00000366362:D432H;ENSP00000343001:D677H	ENSP00000253251:D548H	D	+	1	0	UBE4B	10117636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.813000	0.99286	2.870000	0.98441	0.637000	0.83480	GAT		0.378	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		3	40	0	0	0	1	0	3	40				
ITPR2	3709	broad.mit.edu	37	12	26553161	26553161	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:26553161C>T	ENST00000381340.3	-	53	7846	c.7430G>A	c.(7429-7431)aGg>aAg	p.R2477K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2477					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTCACACGTCCTTTCAATTCC	0.368																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7429-7431)aGg>aAg		inositol 1,4,5-trisphosphate receptor, type 2							115.0	109.0	111.0					12																	26553161		1892	4107	5999	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26553161C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7430G>A	12.37:g.26553161C>T	ENSP00000370744:p.Arg2477Lys					RP11-513G19.1_ENST00000535324.1_RNA	p.R2477K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			53	7846	-	Colorectal(261;0.0847)		2477					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7430G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707631	0.68615	.	.	ENSG00000123104	ENST00000381340	D	0.98381	-4.9	4.54	3.64	0.41730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97720	0.9252	L	0.58583	1.82	0.80722	D	1	D	0.56746	0.977	P	0.60886	0.88	D	0.95489	0.8567	10	0.23891	T	0.37	.	9.8403	0.40996	0.0:0.84:0.0:0.16	.	2477	Q14571	ITPR2_HUMAN	K	2477	ENSP00000370744:R2477K	ENSP00000370744:R2477K	R	-	2	0	ITPR2	26444428	1.000000	0.71417	0.890000	0.34922	0.964000	0.63967	3.480000	0.53172	2.508000	0.84585	0.563000	0.77884	AGG		0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		22	55	0	0	0	1	0	22	55				
ZSCAN20	7579	broad.mit.edu	37	1	33957252	33957252	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33957252C>T	ENST00000361328.3	+	6	1547	c.1394C>T	c.(1393-1395)aCc>aTc	p.T465I	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T411I	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	465					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTTGAGTCTACCCAGGGGCCC	0.537																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1393-1395)aCc>aTc		zinc finger and SCAN domain containing 20							118.0	129.0	125.0					1																	33957252		1911	4107	6018	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33957252C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1394C>T	1.37:g.33957252C>T	ENSP00000355053:p.Thr465Ile					ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T411I	p.T465I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			6	1547	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	465					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1394C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.509796	0.00984	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.01998	4.51	5.61	-3.54	0.04653	.	2.218800	0.01903	N	0.039361	T	0.01627	0.0052	N	0.10874	0.06	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.47071	-0.9145	10	0.24483	T	0.36	2.8936	8.3705	0.32412	0.0:0.5214:0.1184:0.3602	.	465;411;465	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	I	411;465;411;399;399	ENSP00000362512:T411I	ENSP00000324450:T465I	T	+	2	0	ZSCAN20	33729839	0.000000	0.05858	0.004000	0.12327	0.252000	0.25951	-0.409000	0.07160	-0.538000	0.06281	0.561000	0.74099	ACC		0.537	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		19	139	0	0	0	1	0	19	139				
RPTOR	57521	broad.mit.edu	37	17	78681790	78681790	+	Silent	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:78681790C>G	ENST00000306801.3	+	4	860	c.498C>G	c.(496-498)gtC>gtG	p.V166V	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Silent_p.V166V|RPTOR_ENST00000570891.1_Silent_p.V166V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	166					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						AGGTCTGGGTCTTCAACAAGG	0.602																																						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.(496-498)gtC>gtG		regulatory associated protein of MTOR, complex 1							53.0	52.0	52.0					17																	78681790		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:78681790C>G		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.498C>G	17.37:g.78681790C>G						RPTOR_ENST00000570891.1_Silent_p.V166V|RPTOR_ENST00000544334.2_Silent_p.V166V|RPTOR_ENST00000537330.1_5'UTR	p.V166V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			4	860	+			166					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.498C>G	CCDS11773.1																																																																																				0.602	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		4	23	0	0	0	1	0	4	23				
CASD1	64921	broad.mit.edu	37	7	94167034	94167034	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:94167034A>G	ENST00000297273.4	+	9	1381	c.1094A>G	c.(1093-1095)gAa>gGa	p.E365G		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	365						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCTTCATTAGAAATACTTTTA	0.338																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1093-1095)gAa>gGa		CAS1 domain containing 1							106.0	118.0	114.0					7																	94167034		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94167034A>G	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1094A>G	7.37:g.94167034A>G	ENSP00000297273:p.Glu365Gly						p.E365G	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	1381	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		365					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1094A>G	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484090	0.26598	.	.	ENSG00000127995	ENST00000297273	T	0.47177	0.85	5.52	4.36	0.52297	.	0.096626	0.64402	D	0.000001	T	0.31295	0.0792	N	0.19112	0.55	0.47183	D	0.999344	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.001	T	0.05971	-1.0853	10	0.23302	T	0.38	.	11.8037	0.52141	0.9306:0.0:0.0694:0.0	.	365;365	Q8WZ77;Q96PB1	.;CASD1_HUMAN	G	365	ENSP00000297273:E365G	ENSP00000297273:E365G	E	+	2	0	CASD1	94004970	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.881000	0.63114	1.028000	0.39785	0.482000	0.46254	GAA		0.338	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		4	74	0	0	0	1	0	4	74				
XYLT1	64131	broad.mit.edu	37	16	17202832	17202832	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:17202832T>A	ENST00000261381.6	-	12	2684	c.2600A>T	c.(2599-2601)tAc>tTc	p.Y867F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	867					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						CTGCTCCATGTAGGCATTGCG	0.582																																						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.(2599-2601)tAc>tTc		xylosyltransferase I							92.0	93.0	93.0					16																	17202832		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202832T>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.2600A>T	16.37:g.17202832T>A	ENSP00000261381:p.Tyr867Phe						p.Y867F	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			12	2684	-			867					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2600A>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791657	0.90367	.	.	ENSG00000103489	ENST00000261381	T	0.05025	3.51	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.02450	-1.1157	10	0.66056	D	0.02	-43.7133	15.3511	0.74389	0.0:0.0:0.0:1.0	.	867	Q86Y38	XYLT1_HUMAN	F	867	ENSP00000261381:Y867F	ENSP00000261381:Y867F	Y	-	2	0	XYLT1	17110333	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.841000	0.86834	2.217000	0.71921	0.533000	0.62120	TAC		0.582	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		7	57	0	0	0	1	0	7	57				
HAVCR1	26762	broad.mit.edu	37	5	156479435	156479435	+	Missense_Mutation	SNP	C	C	A	rs386693989		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:156479435C>A	ENST00000339252.3	-	3	1142	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V204L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTTGTCACTGGAACACTT	0.473																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(610-612)Gtg>Ttg		hepatitis A virus cellular receptor 1							344.0	337.0	339.0					5																	156479435		2069	4209	6278	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479435C>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.610G>T	5.37:g.156479435C>A	ENSP00000344844:p.Val204Leu					HAVCR1_ENST00000522693.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V204L	p.V204L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1142	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	199			Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.610G>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	3.192	-0.165493	0.06461	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.14144	2.53;2.59;2.59;2.53;2.59;2.61	3.32	2.09	0.27110	.	.	.	.	.	T	0.05410	0.0143	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.08055	0.002;0.003;0.003	T	0.43475	-0.9389	9	0.07030	T	0.85	-1.2487	6.678	0.23106	0.0:0.1223:0.0:0.8777	.	204;199;199	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	L	204	ENSP00000428524:V204L;ENSP00000427898:V204L;ENSP00000344844:V204L;ENSP00000403333:V204L;ENSP00000440258:V204L;ENSP00000428422:V204L	ENSP00000344844:V204L	V	-	1	0	HAVCR1	156412013	0.594000	0.26849	0.056000	0.19401	0.005000	0.04900	0.637000	0.24659	0.491000	0.27793	-0.382000	0.06688	GTG		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			21	254	1	0	1.01871e-10	1	1.14009e-10	21	254				
PLCD1	5333	broad.mit.edu	37	3	38053097	38053097	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:38053097G>T	ENST00000334661.4	-	4	718	c.496C>A	c.(496-498)Cag>Aag	p.Q166K	Y_RNA_ENST00000363709.1_RNA|PLCD1_ENST00000463876.1_Missense_Mutation_p.Q187K|PLCD1_ENST00000479619.1_5'UTR	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	166	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		AGGAAGTTCTGCAGCTCCTTG	0.537																																						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.(559-561)Cag>Aag		phospholipase C, delta 1							161.0	148.0	153.0					3																	38053097		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.chr3:38053097G>T		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.496C>A	3.37:g.38053097G>T	ENSP00000335600:p.Gln166Lys					PLCD1_ENST00000334661.4_Missense_Mutation_p.Q166K|PLCD1_ENST00000479619.1_5'UTR	p.Q187K	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	4	912	-			166			EF-hand 2.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.559C>A	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	6.589	0.477107	0.12521	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.70631	-0.5;-0.5	5.11	2.93	0.34026	EF-hand-like domain (1);	0.094616	0.64402	N	0.000001	T	0.34629	0.0904	N	0.00569	-1.365	0.31278	N	0.690999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33214	-0.9877	10	0.18710	T	0.47	.	11.6272	0.51153	0.0:0.0:0.3815:0.6184	.	166;187	P51178;B3KR14	PLCD1_HUMAN;.	K	187;166	ENSP00000430344:Q187K;ENSP00000335600:Q166K	ENSP00000335600:Q166K	Q	-	1	0	PLCD1	38028101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.281000	0.51685	1.228000	0.43614	0.655000	0.94253	CAG		0.537	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			18	18	1	0	1.02788e-11	1	1.16023e-11	18	18				
CNTNAP2	26047	broad.mit.edu	37	7	146829381	146829381	+	Silent	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:146829381C>G	ENST00000361727.3	+	8	1644	c.1128C>G	c.(1126-1128)gtC>gtG	p.V376V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	376					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V376V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGTGCCTGTCTTTTTCAACG	0.458										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - coding silent(1)	p.V376V(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1126-1128)gtC>gtG		contactin associated protein-like 2							128.0	124.0	125.0					7																	146829381		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829381C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1128C>G	7.37:g.146829381C>G		HNSCC(39;0.1)					p.V376V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1644	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	376					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1128C>G	CCDS5889.1																																																																																				0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	65	0	0	0	1	0	12	65				
FSIP2	401024	broad.mit.edu	37	2	186670981	186670981	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:186670981C>G	ENST00000424728.1	+	17	16948	c.16948C>G	c.(16948-16950)Cga>Gga	p.R5650G	FSIP2_ENST00000343098.5_Missense_Mutation_p.R5739G			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5650										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATAAGAATTCGAACATCAAG	0.383																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17215-17217)Cga>Gga		fibrous sheath interacting protein 2							43.0	41.0	42.0					2																	186670981		1842	4079	5921	SO:0001583	missense	401024							g.chr2:186670981C>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16948C>G	2.37:g.186670981C>G	ENSP00000401306:p.Arg5650Gly					FSIP2_ENST00000424728.1_Missense_Mutation_p.R5650G	p.R5739G	NM_173651.2	NP_775922.2					17	17215	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17215C>G		.	.	.	.	.	.	.	.	.	.	C	10.51	1.370005	0.24771	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.46451	0.87;0.87	4.76	0.593	0.17478	.	.	.	.	.	T	0.20700	0.0498	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.19647	-1.0299	7	0.25106	T	0.35	.	2.4141	0.04431	0.345:0.3907:0.1679:0.0964	.	.	.	.	G	5739;5650	ENSP00000344403:R5739G;ENSP00000401306:R5650G	ENSP00000344403:R5739G	R	+	1	2	FSIP2	186379226	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.101000	0.10973	0.225000	0.20959	0.591000	0.81541	CGA		0.383	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		5	53	0	0	0	1	0	5	53				
MED29	55588	broad.mit.edu	37	19	39880712	39880712	+	5'Flank	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:39880712T>C	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.N56S|PAF1_ENST00000221266.7_Missense_Mutation_p.N46S|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.N46S			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTCTCACCTGTTCTGGTCGAA	0.527																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(166-168)aAc>aGc		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							153.0	149.0	150.0					19																	39880712		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880712T>C	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880712T>C	Exception_encountered					PAF1_ENST00000595564.1_Missense_Mutation_p.N46S|PAF1_ENST00000221266.7_Missense_Mutation_p.N46S	p.N56S	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		3	497	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		56					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.167A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.87|16.87	3.242891|3.242891	0.58995|0.58995	.|.	.|.	ENSG00000006712|ENSG00000006712	ENST00000221265;ENST00000221266|ENST00000416728	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.056958|.	0.64402|.	D|.	0.000001|.	T|T	0.29028|0.29028	0.0721|0.0721	N|N	0.20807|0.20807	0.61|0.61	0.23132|0.23132	N|N	0.998247|0.998247	B;B|.	0.22276|.	0.035;0.067|.	B;B|.	0.27380|.	0.012;0.079|.	T|T	0.16837|0.16837	-1.0389|-1.0389	9|6	0.10377|0.08599	T|T	0.69|0.76	.|.	12.1769|12.1769	0.54190|0.54190	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	46;56|.	F8W9Q2;Q8N7H5|.	.;PAF1_HUMAN|.	S|A	56;46|44	.|.	ENSP00000221265:N56S|ENSP00000396412:T44A	N|T	-|-	2|1	0|0	PAF1|PAF1	44572552|44572552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.251000|4.251000	0.58778|0.58778	2.368000|2.368000	0.80403|0.80403	0.529000|0.529000	0.55759|0.55759	AAC|ACA		0.527	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		7	105	0	0	0	1	0	7	105				
ZNF544	27300	broad.mit.edu	37	19	58757773	58757773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:58757773G>A	ENST00000596652.1	+	4	374	c.140G>A	c.(139-141)tGg>tAg	p.W47*	ZNF544_ENST00000595981.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.W47*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596929.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000333581.5_Nonsense_Mutation_p.W47*|ZNF544_ENST00000599227.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000594384.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596825.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000599953.1_5'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	47	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)|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)		CTGGAGACCTGGGAGCATATT	0.552																																						ENST00000599227.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(139-141)tGg>tAg		zinc finger protein 544							127.0	114.0	118.0					19																	58757773		2203	4300	6503	SO:0001587	stop_gained	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58757773G>A	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.140G>A	19.37:g.58757773G>A	ENSP00000469635:p.Trp47*					ZNF544_ENST00000596929.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596652.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000595981.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000333581.5_Nonsense_Mutation_p.W47*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.W47*|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000594384.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596825.1_Nonsense_Mutation_p.W47*|CTD-3138B18.4_ENST00000600029.1_Intron	p.W47*			Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	5	724	+		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)	47			KRAB.		A8K6J1|Q9UEX4	Nonsense_Mutation	SNP	ENST00000596652.1	37	c.140G>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037333	0.93630	.	.	ENSG00000198131	ENST00000269829;ENST00000333581;ENST00000415203	.	.	.	2.36	-0.409	0.12378	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	2.8832	0.05654	0.1601:0.0:0.3573:0.4825	.	.	.	.	X	47	.	ENSP00000269829:W47X	W	+	2	0	ZNF544	63449585	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.632000	0.05489	0.284000	0.22305	0.407000	0.27541	TGG		0.552	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		19	81	0	0	0	1	0	19	81				
EPHB6	2051	broad.mit.edu	37	7	142566032	142566032	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:142566032A>G	ENST00000392957.2	+	14	2739	c.1952A>G	c.(1951-1953)tAc>tGc	p.Y651C	EPHB6_ENST00000411471.2_Missense_Mutation_p.Y374C|EPHB6_ENST00000442129.1_Missense_Mutation_p.Y651C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	651						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)					CCCTCCACCTACGAGGACCCC	0.572																																						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.(1951-1953)tAc>tGc		EPH receptor B6							108.0	101.0	104.0					7																	142566032		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566032A>G	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.1952A>G	7.37:g.142566032A>G	ENSP00000376684:p.Tyr651Cys					EPHB6_ENST00000442129.1_Missense_Mutation_p.Y651C|EPHB6_ENST00000411471.2_Missense_Mutation_p.Y374C	p.Y651C	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			14	2739	+	Melanoma(164;0.059)		651					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1952A>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023957	0.75390	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.35605	1.3;1.3;1.3	3.92	3.92	0.45320	Protein kinase-like domain (1);	0.000000	0.39615	N	0.001303	T	0.55529	0.1926	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.57425	0.776;0.82	T	0.63616	-0.6597	10	0.66056	D	0.02	.	12.128	0.53926	1.0:0.0:0.0:0.0	.	651;374	O15197;O15197-2	EPHB6_HUMAN;.	C	651;651;374	ENSP00000376684:Y651C;ENSP00000410789:Y651C;ENSP00000409061:Y374C	ENSP00000376684:Y651C	Y	+	2	0	EPHB6	142276154	1.000000	0.71417	0.188000	0.23233	0.940000	0.58332	9.089000	0.94137	1.654000	0.50703	0.459000	0.35465	TAC		0.572	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			8	63	0	0	0	1	0	8	63				
HIRIP3	8479	broad.mit.edu	37	16	30005994	30005994	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:30005994C>G	ENST00000279392.3	-	4	1302	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	158	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCACTGCTCTCCTCTCCCCTC	0.572																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(472-474)Gag>Cag		HIRA interacting protein 3							198.0	208.0	205.0					16																	30005994		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30005994C>G	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.472G>C	16.37:g.30005994C>G	ENSP00000279392:p.Glu158Gln					HIRIP3_ENST00000564026.1_Intron	p.E158Q	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1302	-			158			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.472G>C	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684299	0.14907	.	.	ENSG00000149929	ENST00000279392	T	0.37235	1.21	3.94	-2.44	0.06502	.	0.964148	0.08549	N	0.929360	T	0.23926	0.0579	N	0.21448	0.665	0.09310	N	1	P	0.37233	0.588	B	0.39119	0.291	T	0.25813	-1.0121	10	0.27785	T	0.31	-9.979	9.7602	0.40528	0.0:0.6645:0.0:0.3355	.	158	Q9BW71	HIRP3_HUMAN	Q	158	ENSP00000279392:E158Q	ENSP00000279392:E158Q	E	-	1	0	HIRIP3	29913495	0.000000	0.05858	0.010000	0.14722	0.132000	0.20833	0.391000	0.20784	-0.550000	0.06183	0.591000	0.81541	GAG		0.572	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		22	262	0	0	0	1	0	22	262				
KIAA1755	85449	broad.mit.edu	37	20	36841585	36841585	+	Silent	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:36841585A>G	ENST00000279024.4	-	14	3733	c.3462T>C	c.(3460-3462)ctT>ctC	p.L1154L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1154										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)				AGGTGGTGGCAAGCAAATGCT	0.657																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3460-3462)ctT>ctC		KIAA1755							45.0	48.0	47.0					20																	36841585		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36841585A>G	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.3462T>C	20.37:g.36841585A>G							p.L1154L	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			14	3733	-		Myeloproliferative disorder(115;0.00874)	1154					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.3462T>C	CCDS33467.1																																																																																				0.657	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		15	44	0	0	0	1	0	15	44				
MED29	55588	broad.mit.edu	37	19	39883133	39883133	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:39883133G>T	ENST00000599213.2	+	2	273	c.246G>T	c.(244-246)ttG>ttT	p.L82F	MED29_ENST00000594368.1_Missense_Mutation_p.L82F|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.L103F|PAF1_ENST00000595564.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	82	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCCAAAACTTGATTCAGAACA	0.423																																						ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(307-309)ttG>ttT		mediator complex subunit 29							139.0	132.0	134.0					19																	39883133		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39883133G>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.246G>T	19.37:g.39883133G>T	ENSP00000471802:p.Leu82Phe					MED29_ENST00000599213.2_Missense_Mutation_p.L82F|MED29_ENST00000594368.1_Missense_Mutation_p.L82F	p.L103F	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		2	358	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		82					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.309G>T		.	.	.	.	.	.	.	.	.	.	G	15.03	2.712038	0.48517	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	4.43	0.53597	.	0.082395	0.49305	D	0.000146	T	0.67627	0.2913	L	0.53249	1.67	0.47065	D	0.999303	D;B	0.89917	1.0;0.017	D;B	0.91635	0.999;0.018	T	0.65434	-0.6169	9	0.36615	T	0.2	-6.7177	9.7402	0.40413	0.0:0.0:0.7937:0.2063	.	82;103	Q9NX70;B4DUA7	MED29_HUMAN;.	F	103;21	.	ENSP00000314343:L103F	L	+	3	2	MED29	44574973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.509000	0.53386	2.273000	0.75805	0.563000	0.77884	TTG		0.423	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		17	28	1	0	7.45023e-12	1	8.44573e-12	17	28				
ACSM2A	123876	broad.mit.edu	37	16	20482884	20482884	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:20482884T>C	ENST00000573854.1	+	6	881	c.767T>C	c.(766-768)aTa>aCa	p.I256T	ACSM2A_ENST00000575690.1_Missense_Mutation_p.I256T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.I177T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.I28T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.I256T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.I256T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	256					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCCTCTGATATAATGTGGACC	0.458																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(766-768)aTa>aCa		acyl-CoA synthetase medium-chain family member 2A							159.0	149.0	153.0					16																	20482884		2203	4298	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20482884T>C	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.767T>C	16.37:g.20482884T>C	ENSP00000459451:p.Ile256Thr					ACSM2A_ENST00000536134.1_Missense_Mutation_p.I28T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.I256T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.I256T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.I177T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.I256T|ACSM2A_ENST00000575558.1_3'UTR	p.I256T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			6	881	+			256					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.767T>C	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	T	7.774	0.708124	0.15239	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.51	-0.426	0.12314	AMP-dependent synthetase/ligase (1);	0.892392	0.09378	N	0.810380	T	0.39384	0.1076	L	0.46819	1.47	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.21546	0.035;0.034	T	0.40040	-0.9584	10	0.49607	T	0.09	-0.938	7.6233	0.28197	0.0:0.3422:0.0:0.6578	.	177;256	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	177;256;28;256	ENSP00000392169:I177T;ENSP00000219054:I256T;ENSP00000445082:I28T;ENSP00000379411:I256T	ENSP00000219054:I256T	I	+	2	0	ACSM2A	20390385	0.002000	0.14202	0.007000	0.13788	0.056000	0.15407	1.255000	0.32909	0.007000	0.14760	0.248000	0.18094	ATA		0.458	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	116	0	0	0	1	0	7	116				
LRRC66	339977	broad.mit.edu	37	4	52860891	52860891	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:52860891C>A	ENST00000343457.3	-	4	2303	c.2297G>T	c.(2296-2298)tGc>tTc	p.C766F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	766						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTGATTCTTGCATTTCCCTGG	0.463																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2296-2298)tGc>tTc		leucine rich repeat containing 66							91.0	89.0	89.0					4																	52860891		1907	4135	6042	SO:0001583	missense	339977					integral to membrane		g.chr4:52860891C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2297G>T	4.37:g.52860891C>A	ENSP00000341944:p.Cys766Phe						p.C766F	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2303	-			766						Missense_Mutation	SNP	ENST00000343457.3	37	c.2297G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	5.041	0.193247	0.09599	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	-4.56	0.03431	.	1.049680	0.07477	N	0.903160	T	0.12944	0.0314	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32771	-0.9894	10	0.10111	T	0.7	0.0503	0.6437	0.00815	0.2468:0.2633:0.122:0.3678	.	766	Q68CR7	LRC66_HUMAN	F	766	ENSP00000341944:C766F	ENSP00000341944:C766F	C	-	2	0	LRRC66	52555648	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.056000	0.03489	-1.267000	0.02443	-0.824000	0.03097	TGC		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		15	43	1	0	2.61681e-11	1	2.94112e-11	15	43				
GRIA2	2891	broad.mit.edu	37	4	158254065	158254065	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:158254065A>T	ENST00000264426.9	+	7	1256	c.977A>T	c.(976-978)aAt>aTt	p.N326I	GRIA2_ENST00000393815.2_Missense_Mutation_p.N279I|GRIA2_ENST00000296526.7_Missense_Mutation_p.N326I|GRIA2_ENST00000449365.1_Missense_Mutation_p.N279I|GRIA2_ENST00000507898.1_Missense_Mutation_p.N279I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	326					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGAAGGGGGAATGCAGGAGAC	0.478																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(976-978)aAt>aTt		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						66.0	74.0	71.0					4																	158254065		2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254065A>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.977A>T	4.37:g.158254065A>T	ENSP00000264426:p.Asn326Ile					GRIA2_ENST00000264426.9_Missense_Mutation_p.N326I|GRIA2_ENST00000393815.2_Missense_Mutation_p.N279I|GRIA2_ENST00000449365.1_Missense_Mutation_p.N279I|GRIA2_ENST00000507898.1_Missense_Mutation_p.N279I	p.N326I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1302	+	all_hematologic(180;0.24)	Renal(120;0.0458)	326					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.977A>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516351	0.64634	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.14391	2.51;2.51;2.55;2.55;2.51	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.936;0.953;0.998	T	0.04781	-1.0927	10	0.62326	D	0.03	.	14.8476	0.70272	1.0:0.0:0.0:0.0	.	326;326;279	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	I	279;279;326;326;279	ENSP00000426845:N279I;ENSP00000377403:N279I;ENSP00000296526:N326I;ENSP00000264426:N326I;ENSP00000389837:N279I	ENSP00000264426:N326I	N	+	2	0	GRIA2	158473515	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	9.339000	0.96797	1.896000	0.54893	0.455000	0.32223	AAT		0.478	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			5	49	0	0	0	1	0	5	49				
CYB5D2	124936	broad.mit.edu	37	17	4047063	4047063	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:4047063G>C	ENST00000301391.3	+	1	514	c.14G>C	c.(13-15)gGa>gCa	p.G5A	ZZEF1_ENST00000381638.2_5'Flank|CYB5D2_ENST00000575251.1_Intron|ZZEF1_ENST00000574474.1_5'Flank|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	5					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TTGAGGTGCGGAGGCCGTGGG	0.627																																						ENST00000301391.3																			0				breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						c.(13-15)gGa>gCa		cytochrome b5 domain containing 2							116.0	111.0	113.0					17																	4047063		2203	4300	6503	SO:0001583	missense	124936				nervous system development	extracellular region	heme binding	g.chr17:4047063G>C	AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.14G>C	17.37:g.4047063G>C	ENSP00000301391:p.Gly5Ala					CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron	p.G5A	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN			1	514	+			5					B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	37	c.14G>C	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	g	2.460	-0.324252	0.05350	.	.	ENSG00000167740	ENST00000301391	T	0.76709	-1.04	4.64	2.6	0.31112	.	1.547770	0.03681	N	0.245479	T	0.64864	0.2637	L	0.29908	0.895	0.20873	N	0.999835	B	0.20261	0.043	B	0.19946	0.027	T	0.50065	-0.8871	10	0.02654	T	1	-0.7384	7.5674	0.27887	0.0914:0.167:0.7416:0.0	.	5	Q8WUJ1	NEUFC_HUMAN	A	5	ENSP00000301391:G5A	ENSP00000301391:G5A	G	+	2	0	CYB5D2	3993812	0.114000	0.22134	0.000000	0.03702	0.006000	0.05464	1.599000	0.36751	0.653000	0.30826	0.651000	0.88453	GGA		0.627	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		5	93	0	0	0	1	0	5	93				
POLA2	23649	broad.mit.edu	37	11	65064728	65064728	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:65064728C>T	ENST00000265465.3	+	18	2316	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	595					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTGTGCAGGTCGTCAGGATCT	0.582																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(1783-1785)gtC>gtT		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						63.0	66.0	65.0					11																	65064728		2201	4297	6498	SO:0001819	synonymous_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65064728C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1785C>T	11.37:g.65064728C>T						POLA2_ENST00000534785.1_3'UTR	p.V595V	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			18	2316	+			595					B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	c.1785C>T	CCDS8098.1																																																																																				0.582	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		9	33	0	0	0	1	0	9	33				
DDX26B	203522	broad.mit.edu	37	X	134679459	134679459	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:134679459C>G	ENST00000370752.4	+	3	635	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	101	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTAAATCTCAATAGATT	0.343																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(301-303)Ctc>Gtc		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							68.0	72.0	70.0					X																	134679459		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134679459C>G	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.301C>G	X.37:g.134679459C>G	ENSP00000359788:p.Leu101Val					DDX26B_ENST00000493637.1_3'UTR	p.L101V	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			3	635	+	Acute lymphoblastic leukemia(192;6.56e-05)		101			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.301C>G	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207019	0.39003	.	.	ENSG00000165359	ENST00000370752	T	0.13538	2.58	5.62	4.72	0.59763	von Willebrand factor, type A (2);	0.057309	0.64402	D	0.000002	T	0.07773	0.0195	N	0.20807	0.61	0.58432	D	0.999995	B	0.28026	0.198	B	0.33392	0.163	T	0.12091	-1.0561	10	0.02654	T	1	-7.2638	8.4167	0.32676	0.0:0.7651:0.1514:0.0835	.	101	Q5JSJ4	DX26B_HUMAN	V	101	ENSP00000359788:L101V	ENSP00000359788:L101V	L	+	1	0	DDX26B	134507125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.967000	0.63722	2.353000	0.79882	0.600000	0.82982	CTC		0.343	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		5	40	0	0	0	1	0	5	40				
BCAR3	8412	broad.mit.edu	37	1	94054673	94054673	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:94054673C>G	ENST00000370244.1	-	7	1078	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	BCAR3_ENST00000370247.3_Missense_Mutation_p.E173Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E264Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E264Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	264					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCATAATGCTCCTCCAGGCAC	0.672																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(790-792)Gag>Cag		breast cancer anti-estrogen resistance 3							29.0	29.0	29.0					1																	94054673		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054673C>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.790G>C	1.37:g.94054673C>G	ENSP00000359264:p.Glu264Gln					BCAR3_ENST00000260502.6_Missense_Mutation_p.E264Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E173Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E264Q	p.E264Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	1078	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	264					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.790G>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463715	0.84425	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	T;T;T;T	0.21932	2.01;1.98;1.98;1.98	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	M	0.79475	2.455	0.80722	D	1	D;P	0.56968	0.978;0.949	P;P	0.57502	0.688;0.822	T	0.06373	-1.0830	10	0.16896	T	0.51	-10.5139	19.0062	0.92852	0.0:1.0:0.0:0.0	.	264;173	O75815;Q5TEW3	BCAR3_HUMAN;.	Q	173;264;264;264	ENSP00000359267:E173Q;ENSP00000260502:E264Q;ENSP00000359264:E264Q;ENSP00000359263:E264Q	ENSP00000260502:E264Q	E	-	1	0	BCAR3	93827261	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.623000	0.67757	2.575000	0.86900	0.561000	0.74099	GAG		0.672	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			3	20	0	0	0	1	0	3	20				
TAB3	257397	broad.mit.edu	37	X	30872591	30872591	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:30872591G>A	ENST00000378933.1	-	3	1368	c.1191C>T	c.(1189-1191)caC>caT	p.H397H	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Silent_p.H397H|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Silent_p.H397H|TAB3_ENST00000378932.2_Silent_p.H397H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	397	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|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)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTACAGTGAGTGTTGATTCC	0.413																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(1189-1191)caC>caT		TGF-beta activated kinase 1/MAP3K7 binding protein 3							271.0	223.0	239.0					X																	30872591		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872591G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1191C>T	X.37:g.30872591G>A						TAB3_ENST00000288422.2_Silent_p.H397H|TAB3_ENST00000378932.2_Silent_p.H397H|TAB3_ENST00000378930.3_Silent_p.H397H|TAB3-AS2_ENST00000445240.1_RNA	p.H397H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1368	-			397			Pro-rich.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.1191C>T	CCDS14226.1																																																																																				0.413	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	69	0	0	0	1	0	8	69				
FAM135A	57579	broad.mit.edu	37	6	71235240	71235240	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:71235240C>G	ENST00000418814.2	+	15	3067	c.2453C>G	c.(2452-2454)tCa>tGa	p.S818*	FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S622*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S605*|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S818*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S605*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	818										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						GTAAAATTTTCATTAGGAAAT	0.358																																						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.(2452-2454)tCa>tGa		family with sequence similarity 135, member A							43.0	45.0	44.0					6																	71235240		2202	4296	6498	SO:0001587	stop_gained	57579							g.chr6:71235240C>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.2453C>G	6.37:g.71235240C>G	ENSP00000410768:p.Ser818*					FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S818*|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S605*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S605*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S622*	p.S818*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	3067	+			818					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	c.2453C>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	37	6.238032	0.97403	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	5.88	5.88	0.94601	.	0.167613	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	14.3808	0.66908	0.0:0.9297:0.0:0.0703	.	.	.	.	X	818;605;605;622;818	.	ENSP00000354913:S622X	S	+	2	0	FAM135A	71291961	0.898000	0.30612	0.999000	0.59377	0.991000	0.79684	2.042000	0.41222	2.780000	0.95670	0.655000	0.94253	TCA		0.358	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		7	48	0	0	0	1	0	7	48				
GPR148	344561	broad.mit.edu	37	2	131487460	131487460	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:131487460G>T	ENST00000309926.4	+	1	818	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTATGCAGAGGCCAAGACTTC	0.557																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(736-738)Gcc>Tcc		G protein-coupled receptor 148							121.0	118.0	119.0					2																	131487460		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487460G>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.736G>T	2.37:g.131487460G>T	ENSP00000308908:p.Ala246Ser						p.A246S	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	818	+	Colorectal(110;0.1)		246					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.736G>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	7.625	0.677661	0.14841	.	.	ENSG00000173302	ENST00000309926	T	0.38240	1.15	2.87	-0.328	0.12690	GPCR, rhodopsin-like superfamily (1);	0.326437	0.22855	U	0.054819	T	0.20251	0.0487	N	0.19112	0.55	0.09310	N	0.999996	B	0.19583	0.037	B	0.28638	0.092	T	0.16689	-1.0394	10	0.87932	D	0	-0.2336	3.8858	0.09097	0.3782:0.2086:0.4132:0.0	.	246	Q8TDV2	GP148_HUMAN	S	246	ENSP00000308908:A246S	ENSP00000308908:A246S	A	+	1	0	GPR148	131203930	0.469000	0.25846	0.019000	0.16419	0.613000	0.37349	0.432000	0.21461	-0.251000	0.09542	-0.448000	0.05591	GCC		0.557	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		5	109	1	0	0.014758	1	0.015044	5	109				
FAT2	2196	broad.mit.edu	37	5	150946825	150946825	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:150946825G>C	ENST00000261800.5	-	1	1680	c.1668C>G	c.(1666-1668)aaC>aaG	p.N556K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	556	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCATTCAAGTTCCTGAGCT	0.458																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1666-1668)aaC>aaG		FAT atypical cadherin 2							63.0	71.0	68.0					5																	150946825		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946825G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1668C>G	5.37:g.150946825G>C	ENSP00000261800:p.Asn556Lys						p.N556K	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1680	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	556			Cadherin 4.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1668C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356356	0.41700	.	.	ENSG00000086570	ENST00000261800	T	0.73575	-0.76	5.22	-0.403	0.12400	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.84737	0.5538	M	0.85462	2.755	0.34341	D	0.688793	D	0.89917	1.0	D	0.83275	0.996	D	0.87477	0.2418	10	0.87932	D	0	.	11.404	0.49887	0.4705:0.0:0.5295:0.0	.	556	Q9NYQ8	FAT2_HUMAN	K	556	ENSP00000261800:N556K	ENSP00000261800:N556K	N	-	3	2	FAT2	150927018	0.220000	0.23631	0.839000	0.33178	0.988000	0.76386	0.596000	0.24044	-0.027000	0.13873	0.655000	0.94253	AAC		0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	72	0	0	0	1	0	8	72				
MARCH7	64844	broad.mit.edu	37	2	160604933	160604933	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:160604933G>C	ENST00000259050.4	+	5	1254	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	MARCH7_ENST00000409175.1_Missense_Mutation_p.E378Q|MARCH7_ENST00000539065.1_Missense_Mutation_p.E322Q|MARCH7_ENST00000409591.1_Missense_Mutation_p.E340Q	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	378	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CCAAGAATCTGAAGGTAGAAA	0.408																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1132-1134)Gaa>Caa		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							72.0	76.0	75.0					2																	160604933		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160604933G>C	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1132G>C	2.37:g.160604933G>C	ENSP00000259050:p.Glu378Gln					MARCH7_ENST00000409591.1_Missense_Mutation_p.E340Q|MARCH7_ENST00000539065.1_Missense_Mutation_p.E322Q|MARCH7_ENST00000409175.1_Missense_Mutation_p.E378Q	p.E378Q	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1254	+			378			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1132G>C	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901901	0.72754	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.79	5.79	0.91817	.	0.227351	0.44285	D	0.000471	T	0.63663	0.2530	M	0.64997	1.995	0.46609	D	0.999126	D;D;D	0.69078	0.986;0.997;0.997	P;D;D	0.75484	0.801;0.986;0.986	T	0.57087	-0.7871	10	0.33940	T	0.23	-2.4566	20.024	0.97514	0.0:0.0:1.0:0.0	.	322;340;378	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	Q	378;322;378;340	ENSP00000386830:E378Q;ENSP00000442992:E322Q;ENSP00000259050:E378Q;ENSP00000387238:E340Q	ENSP00000259050:E378Q	E	+	1	0	MARCH7	160313179	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.650000	0.67944	2.718000	0.92993	0.655000	0.94253	GAA		0.408	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		8	117	0	0	0	1	0	8	117				
TMTC2	160335	broad.mit.edu	37	12	83360728	83360728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:83360728C>T	ENST00000321196.3	+	7	2607	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	TMTC2_ENST00000549919.1_Nonsense_Mutation_p.Q628*	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	634					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						GGAAGCAATTCAGAAAATGCC	0.343																																						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.(1882-1884)Cag>Tag		transmembrane and tetratricopeptide repeat containing 2							68.0	71.0	70.0					12																	83360728		2203	4300	6503	SO:0001587	stop_gained	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83360728C>T	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.1900C>T	12.37:g.83360728C>T	ENSP00000322300:p.Gln634*					TMTC2_ENST00000321196.3_Nonsense_Mutation_p.Q634*	p.Q628*			Q8N394	TMTC2_HUMAN			8	3687	+			634					B2RCU7|Q8N2K8	Nonsense_Mutation	SNP	ENST00000321196.3	37	c.1882C>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	45	11.886702	0.99614	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	.	.	.	5.44	5.44	0.79542	.	0.051453	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-14.2308	18.2409	0.89967	0.0:1.0:0.0:0.0	.	.	.	.	X	634;628;389	.	ENSP00000322300:Q634X	Q	+	1	0	TMTC2	81884859	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.269000	0.65542	2.562000	0.86427	0.557000	0.71058	CAG		0.343	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		4	39	0	0	0	1	0	4	39				
TCTN1	79600	broad.mit.edu	37	12	111085594	111085594	+	Missense_Mutation	SNP	C	C	T	rs373723058		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:111085594C>T	ENST00000551590.1	+	14	1817	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.A540V|TCTN1_ENST00000397659.4_Missense_Mutation_p.A559V|TCTN1_ENST00000377654.3_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	554					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ATTTCCACTGCGGTTACTTTT	0.493																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(1660-1662)gCg>gTg		tectonic family member 1		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,3888		0,0,1944	78.0	77.0	77.0		1661,1676,1493,1349,1619	0.2	1.0	12		77	2,8292		0,2,4145	no	missense,missense,missense,missense,missense	TCTN1	NM_001082537.2,NM_001082538.2,NM_001173975.1,NM_001173976.1,NM_024549.5	64,64,64,64,64	0,2,6089	TT,TC,CC		0.0241,0.0,0.0164	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	554/588,559/593,498/532,450/484,540/574	111085594	2,12180	1944	4147	6091	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111085594C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1661C>T	12.37:g.111085594C>T	ENSP00000448735:p.Ala554Val					TCTN1_ENST00000397659.4_Missense_Mutation_p.A559V|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_3'UTR|TCTN1_ENST00000397655.3_Missense_Mutation_p.A540V	p.A554V			Q2MV58	TECT1_HUMAN			14	1817	+			554					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1661C>T	CCDS41835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.955|4.955	0.177407|0.177407	0.09443|0.09443	0.0|0.0	2.41E-4|2.41E-4	ENSG00000204852|ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000552038;ENST00000485445|ENST00000549123;ENST00000481093	T;T;T|.	0.77098|.	-1.05;-1.05;-1.07|.	5.86|5.86	0.199|0.199	0.15175|0.15175	.|.	0.376195|.	0.22811|.	U|.	0.055351|.	T|T	0.38665|0.38665	0.1049|0.1049	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45348|.	0.722;0.856;0.856|.	B;B;B|.	0.30495|.	0.082;0.116;0.116|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|6	0.46703|0.87932	T|D	0.11|0	-13.284|-13.284	8.1116|8.1116	0.30917|0.30917	0.0:0.5675:0.1072:0.3252|0.0:0.5675:0.1072:0.3252	.|.	554;540;559|.	Q2MV58;Q2MV58-3;Q2MV58-2|.	TECT1_HUMAN;.;.|.	V|W	450;554;540;376;559;498;158;73|10;39	ENSP00000448735:A554V;ENSP00000380775:A540V;ENSP00000380779:A559V|.	ENSP00000380771:A450V|ENSP00000448281:R39W	A|R	+|+	2|1	0|2	TCTN1|TCTN1	109569977|109569977	0.906000|0.906000	0.30813|0.30813	0.995000|0.995000	0.50966|0.50966	0.130000|0.130000	0.20726|0.20726	0.942000|0.942000	0.29017|0.29017	0.097000|0.097000	0.17492|0.17492	-0.145000|-0.145000	0.13849|0.13849	GCG|CGG		0.493	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		14	30	0	0	0	1	0	14	30				
MYZAP	100820829	broad.mit.edu	37	15	57924701	57924701	+	Missense_Mutation	SNP	G	G	C	rs200616476		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:57924701G>C	ENST00000267853.5	+	7	842	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	GCOM1_ENST00000380561.2_Missense_Mutation_p.E219Q|MYZAP_ENST00000380565.4_Missense_Mutation_p.E250Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E250Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E250Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.E250Q|GCOM1_ENST00000574161.1_Missense_Mutation_p.E250Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E250Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E219Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E181Q			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	250					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CAGCCAGTATGAGGAGAAGCT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21386	0.0		0.0	False		,,,				2504	0.0					ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(748-750)Gag>Cag									242.0	211.0	222.0					15																	57924701		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57924701G>C	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.748G>C	15.37:g.57924701G>C	ENSP00000267853:p.Glu250Gln					GCOM1_ENST00000396180.1_Missense_Mutation_p.E219Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E181Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E250Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E250Q|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E250Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E219Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E250Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E250Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E250Q	p.E250Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			7	867	+			250					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.748G>C	CCDS10162.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.89	2.966978	0.53507	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.24538	1.86;1.9;1.89;1.89;1.85;1.86;1.86	5.36	3.46	0.39613	.	0.103990	0.64402	N	0.000006	T	0.36413	0.0966	L	0.28694	0.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.992	T	0.02526	-1.1146	10	0.21540	T	0.41	-18.5933	14.9261	0.70878	0.0:0.272:0.728:0.0	.	250;250;250;250	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	Q	250;219;219;181;250;250;250	ENSP00000369943:E250Q;ENSP00000369935:E219Q;ENSP00000379483:E219Q;ENSP00000369933:E181Q;ENSP00000267853:E250Q;ENSP00000369939:E250Q;ENSP00000369942:E250Q	ENSP00000267853:E250Q	E	+	1	0	GCOM1	55711993	1.000000	0.71417	0.301000	0.25044	0.774000	0.43823	5.398000	0.66308	0.634000	0.30469	-0.156000	0.13503	GAG		0.493	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		6	66	0	0	0	1	0	6	66				
RPL10L	140801	broad.mit.edu	37	14	47120595	47120595	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:47120595C>T	ENST00000298283.3	-	1	433	c.345G>A	c.(343-345)atG>atA	p.M115I		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	115					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AGGCACCTCGCATACCTGTCT	0.552																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(343-345)atG>atA		ribosomal protein L10-like							60.0	59.0	59.0					14																	47120595		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120595C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.345G>A	14.37:g.47120595C>T	ENSP00000298283:p.Met115Ile						p.M115I	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	433	-			115					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.345G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484273	0.84854	.	.	ENSG00000165496	ENST00000298283	T	0.81247	-1.47	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	H	0.98866	4.355	0.80722	D	1	B	0.19817	0.039	B	0.32805	0.153	D	0.90708	0.4625	10	0.87932	D	0	-49.847	15.1202	0.72438	0.0:1.0:0.0:0.0	.	115	Q96L21	RL10L_HUMAN	I	115	ENSP00000298283:M115I	ENSP00000298283:M115I	M	-	3	0	RPL10L	46190345	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.929000	0.75852	2.688000	0.91661	0.655000	0.94253	ATG		0.552	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			16	44	0	0	0	1	0	16	44				
DOCK4	9732	broad.mit.edu	37	7	111368447	111368447	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:111368447C>T	ENST00000437633.1	-	52	6040	c.5784G>A	c.(5782-5784)ccG>ccA	p.P1928P	DOCK4_ENST00000494651.2_Silent_p.P811P|DOCK4_ENST00000428084.1_Silent_p.P1937P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1928	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCAGCGCGGGCGGCTCCGACG	0.736																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(5809-5811)ccG>ccA		dedicator of cytokinesis 4							13.0	18.0	16.0					7																	111368447		1759	3894	5653	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368447C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5784G>A	7.37:g.111368447C>T						DOCK4_ENST00000437633.1_Silent_p.P1928P|DOCK4_ENST00000494651.2_Silent_p.P811P	p.P1937P			Q8N1I0	DOCK4_HUMAN			53	6083	-		Acute lymphoblastic leukemia(1;0.0441)	1928			Pro-rich.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.5811G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	2.263	-0.368790	0.05069	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.59	-7.2	0.01495	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42616	-0.9441	4	.	.	.	.	4.425	0.11498	0.1461:0.1095:0.4791:0.2653	.	.	.	.	H	1351;1961	.	.	R	-	2	0	DOCK4	111155683	0.430000	0.25538	0.765000	0.31456	0.082000	0.17680	-0.536000	0.06135	-1.343000	0.02219	-0.165000	0.13383	CGC		0.736	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	37	0	0	0	1	0	4	37				
NOX3	50508	broad.mit.edu	37	6	155750022	155750022	+	Missense_Mutation	SNP	C	C	T	rs149980019		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:155750022C>T	ENST00000159060.2	-	9	1153	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	351	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.V351M(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGGATGTGCACGCTGAAAAAG	0.637																																						ENST00000159060.2																			1	Substitution - Missense(1)	p.V351M(1)	endometrium(1)	cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1051-1053)Gtg>Atg		NADPH oxidase 3		C	MET/VAL	0,4406		0,0,2203	57.0	60.0	59.0		1051	3.0	1.0	6	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOX3	NM_015718.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	351/569	155750022	1,13005	2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750022C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1051G>A	6.37:g.155750022C>T	ENSP00000159060:p.Val351Met						p.V351M	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1153	-		Breast(66;0.0183)	351			FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1051G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008423	0.75046	0.0	1.16E-4	ENSG00000074771	ENST00000159060	D	0.93488	-3.23	5.78	2.99	0.34606	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.229752	0.29908	N	0.010885	D	0.92351	0.7573	M	0.86805	2.84	0.37789	D	0.92729	D	0.61080	0.989	P	0.51945	0.685	D	0.91134	0.4940	10	0.66056	D	0.02	-14.5517	4.5385	0.12045	0.1274:0.6196:0.1229:0.13	.	351	Q9HBY0	NOX3_HUMAN	M	351	ENSP00000159060:V351M	ENSP00000159060:V351M	V	-	1	0	NOX3	155791714	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	2.003000	0.40844	0.766000	0.33244	0.557000	0.71058	GTG		0.637	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			4	65	0	0	0	1	0	4	65				
DNAH7	56171	broad.mit.edu	37	2	196729578	196729578	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:196729578G>C	ENST00000312428.6	-	41	6901	c.6801C>G	c.(6799-6801)agC>agG	p.S2267R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2267					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAACATTAAGCTGCGTAAGT	0.373																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6799-6801)agC>agG		dynein, axonemal, heavy chain 7							173.0	157.0	162.0					2																	196729578		1910	4143	6053	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729578G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6801C>G	2.37:g.196729578G>C	ENSP00000311273:p.Ser2267Arg						p.S2267R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6901	-			2267					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6801C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787479	0.16258	.	.	ENSG00000118997	ENST00000312428	T	0.21031	2.03	5.22	-0.269	0.12930	.	0.043472	0.85682	D	0.000000	T	0.19886	0.0478	L	0.58669	1.825	0.80722	D	1	B	0.34241	0.444	B	0.38156	0.266	T	0.06716	-1.0811	10	0.18276	T	0.48	.	10.5901	0.45304	0.5075:0.0:0.4925:0.0	.	2267	Q8WXX0	DYH7_HUMAN	R	2267	ENSP00000311273:S2267R	ENSP00000311273:S2267R	S	-	3	2	DNAH7	196437823	0.998000	0.40836	0.942000	0.38095	0.321000	0.28281	0.527000	0.22987	0.037000	0.15575	-0.222000	0.12452	AGC		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	113	0	0	0	1	0	5	113				
PRDM10	56980	broad.mit.edu	37	11	129794839	129794839	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:129794839G>C	ENST00000360871.3	-	12	2047	c.1816C>G	c.(1816-1818)Cat>Gat	p.H606D	PRDM10_ENST00000423662.2_Missense_Mutation_p.H524D|PRDM10_ENST00000304538.6_Missense_Mutation_p.H520D|PRDM10_ENST00000526082.1_Missense_Mutation_p.H524D|PRDM10_ENST00000358825.5_Missense_Mutation_p.H610D|PRDM10_ENST00000528746.1_Missense_Mutation_p.H580D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	610					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)		TCATTGATATGAATGGCCACA	0.448																																						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.(1828-1830)Cat>Gat		PR domain containing 10							123.0	124.0	124.0					11																	129794839		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129794839G>C	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.1816C>G	11.37:g.129794839G>C	ENSP00000354118:p.His606Asp					PRDM10_ENST00000528746.1_Missense_Mutation_p.H580D|PRDM10_ENST00000423662.2_Missense_Mutation_p.H524D|PRDM10_ENST00000360871.3_Missense_Mutation_p.H606D|PRDM10_ENST00000526082.1_Missense_Mutation_p.H524D|PRDM10_ENST00000304538.6_Missense_Mutation_p.H520D	p.H610D	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	2059	-	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)	610					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1828C>G	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632791	0.87660	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	H	0.97051	3.93	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.996;0.993;0.996;1.0;0.996	D;D;D;D;D;D	0.87578	0.977;0.99;0.977;0.99;0.998;0.99	D	0.97655	1.0157	10	0.87932	D	0	-30.4696	19.8579	0.96771	0.0:0.0:1.0:0.0	.	520;606;610;524;520;524	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	D	610;520;606;524;580;524;323	ENSP00000351686:H610D;ENSP00000302669:H520D;ENSP00000354118:H606D;ENSP00000398431:H524D;ENSP00000431262:H580D;ENSP00000432237:H524D;ENSP00000435940:H323D	ENSP00000302669:H520D	H	-	1	0	PRDM10	129300049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	CAT		0.448	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		13	110	0	0	0	1	0	13	110				
ZSCAN20	7579	broad.mit.edu	37	1	33960785	33960785	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960785C>T	ENST00000361328.3	+	8	2994	c.2841C>T	c.(2839-2841)atC>atT	p.I947I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	947					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAGCTCATCACACACCAGA	0.527																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2839-2841)atC>atT		zinc finger and SCAN domain containing 20							82.0	96.0	91.0					1																	33960785		2167	4282	6449	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960785C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2841C>T	1.37:g.33960785C>T							p.I947I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2994	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	947					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.2841C>T	CCDS41300.1																																																																																				0.527	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		4	50	0	0	0	1	0	4	50				
ROR1	4919	broad.mit.edu	37	1	64643788	64643788	+	Missense_Mutation	SNP	T	T	G	rs200464688		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:64643788T>G	ENST00000371079.1	+	9	2439	c.2064T>G	c.(2062-2064)ttT>ttG	p.F688L	ROR1_ENST00000545203.1_Missense_Mutation_p.F139L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTTTCAGTTTTGGACTCCAGC	0.468													T|||	1	0.000199681	0.0	0.0	5008	,	,		17079	0.0		0.001	False		,,,				2504	0.0					ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(2062-2064)ttT>ttG		receptor tyrosine kinase-like orphan receptor 1							62.0	65.0	64.0					1																	64643788		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643788T>G	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2064T>G	1.37:g.64643788T>G	ENSP00000360120:p.Phe688Leu					ROR1_ENST00000545203.1_Missense_Mutation_p.F139L	p.F688L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2439	+			688			Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2064T>G	CCDS626.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	15.51	2.854869	0.51376	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.60299	0.2;0.2	5.98	-0.0407	0.13871	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000459	T	0.23727	0.0574	N	0.05230	-0.09	0.58432	D	0.999997	P	0.36837	0.571	B	0.42959	0.403	T	0.24440	-1.0160	10	0.87932	D	0	.	11.1216	0.48293	0.0:0.3898:0.0:0.6102	.	688	Q01973	ROR1_HUMAN	L	688;691;139	ENSP00000360120:F688L;ENSP00000441637:F139L	ENSP00000360120:F688L	F	+	3	2	ROR1	64416376	0.986000	0.35501	0.997000	0.53966	0.993000	0.82548	0.209000	0.17435	-0.032000	0.13758	-0.353000	0.07706	TTT		0.468	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		4	62	0	0	0	1	0	4	62				
LAMA5	3911	broad.mit.edu	37	20	60886035	60886035	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:60886035C>G	ENST00000252999.3	-	74	10270	c.10204G>C	c.(10204-10206)Gtt>Ctt	p.V3402L	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3402	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCTGTGCAACGAAGTGGCCA	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10204-10206)Gtt>Ctt		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						16.0	20.0	19.0					20																	60886035		2184	4267	6451	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60886035C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10204G>C	20.37:g.60886035C>G	ENSP00000252999:p.Val3402Leu						p.V3402L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		74	10270	-	Breast(26;1.57e-08)		3402			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10204G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	7.395	0.631531	0.14322	.	.	ENSG00000130702	ENST00000252999	T	0.79247	-1.25	4.69	2.75	0.32379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.559790	0.17597	N	0.168576	T	0.73892	0.3645	L	0.53249	1.67	0.09310	N	0.999998	B	0.26602	0.154	B	0.35353	0.201	T	0.66524	-0.5902	10	0.62326	D	0.03	.	8.2724	0.31853	0.0:0.7334:0.0:0.2666	.	3402	O15230	LAMA5_HUMAN	L	3402	ENSP00000252999:V3402L	ENSP00000252999:V3402L	V	-	1	0	LAMA5	60319430	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.385000	0.20685	0.432000	0.26286	-0.336000	0.08194	GTT		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	36	0	0	0	1	0	3	36				
SC5D	6309	broad.mit.edu	37	11	121178165	121178165	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:121178165G>C	ENST00000392789.2	+	5	1081	c.844G>C	c.(844-846)Gga>Cga	p.G282R	SC5D_ENST00000534230.1_Splice_Site|SC5D_ENST00000264027.4_Missense_Mutation_p.G282R	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	282				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										CAGCCATTCAGGAAATGGCTG	0.403																																						ENST00000264027.4																			0											c.(844-846)Gga>Cga		sterol-C5-desaturase							47.0	48.0	47.0					11																	121178165		2202	4299	6501	SO:0001583	missense	6309							g.chr11:121178165G>C		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.844G>C	11.37:g.121178165G>C	ENSP00000376539:p.Gly282Arg					SC5D_ENST00000534230.1_Splice_Site|SC5D_ENST00000392789.2_Missense_Mutation_p.G282R	p.G282R	NM_006918.4	NP_008849.2					5	1218	+								O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.844G>C	CCDS8435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|G	0.800|0.800	-0.755782|-0.755782	0.03019|0.03019	.|.	.|.	ENSG00000109929|ENSG00000109929	ENST00000534230|ENST00000264027;ENST00000392789	.|D;D	.|0.82619	.|-1.63;-1.63	6.02|6.02	2.02|2.02	0.26589|0.26589	.|.	.|1.292660	.|0.04679	.|N	.|0.412029	.|T	.|0.74824	.|0.3767	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.53585	.|-0.8418	.|10	.|0.15952	.|T	.|0.53	.|-15.9501	6.2291|6.2291	0.20724|0.20724	0.2741:0.1232:0.6027:0.0|0.2741:0.1232:0.6027:0.0	.|.	.|282	.|O75845	.|SC5D_HUMAN	.|R	-1|282	.|ENSP00000264027:G282R;ENSP00000376539:G282R	.|ENSP00000264027:G282R	.|G	+|+	.|1	.|0	SC5DL|SC5DL	120683375|120683375	0.199000|0.199000	0.23386|0.23386	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	1.133000|1.133000	0.31430|0.31430	0.427000|0.427000	0.26145|0.26145	-0.150000|-0.150000	0.13652|0.13652	.|GGA		0.403	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		5	59	0	0	0	1	0	5	59				
MARCH10	162333	broad.mit.edu	37	17	60802416	60802416	+	Missense_Mutation	SNP	G	G	C	rs368236643		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:60802416G>C	ENST00000311269.5	-	7	2261	c.1987C>G	c.(1987-1989)Cag>Gag	p.Q663E	RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q663E|MARCH10_ENST00000544856.2_Missense_Mutation_p.Q662E|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q701E	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	663					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Q663E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCGGCTATCTGACAGATGCGA	0.552																																						ENST00000544856.2																			1	Substitution - Missense(1)	p.Q663E(1)	breast(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(1984-1986)Cag>Gag		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							65.0	70.0	68.0					17																	60802416		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60802416G>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1987C>G	17.37:g.60802416G>C	ENSP00000311496:p.Gln663Glu					MARCH10_ENST00000311269.5_Missense_Mutation_p.Q663E|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q663E|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q701E|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	p.Q662E			Q8NA82	MARHA_HUMAN			8	2362	-			663					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.1984C>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751662	0.49362	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.41400	1.0;1.0;1.0	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.47093	D	0.000241	T	0.66858	0.2832	M	0.78049	2.395	0.45108	D	0.998128	D;D;D	0.69078	0.993;0.991;0.997	D;D;D	0.75020	0.985;0.974;0.985	T	0.69859	-0.5031	10	0.72032	D	0.01	-12.5003	18.314	0.90213	0.0:0.0:1.0:0.0	.	662;662;663	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	E	663;663;662	ENSP00000416177:Q663E;ENSP00000311496:Q663E;ENSP00000443746:Q662E	ENSP00000311496:Q663E	Q	-	1	0	MARCH10	58156148	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.404000	0.97306	2.705000	0.92388	0.650000	0.86243	CAG		0.552	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		4	64	0	0	0	1	0	4	64				
TMTC3	160418	broad.mit.edu	37	12	88584324	88584324	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:88584324G>A	ENST00000266712.6	+	12	1851	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	544					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGAGTCCCGACTGGAAGAA	0.433																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1630-1632)cGa>cAa		transmembrane and tetratricopeptide repeat containing 3							104.0	92.0	96.0					12																	88584324		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88584324G>A		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1631G>A	12.37:g.88584324G>A	ENSP00000266712:p.Arg544Gln						p.R544Q	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			12	1851	+			544					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1631G>A	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486244	0.96323	.	.	ENSG00000139324	ENST00000266712	T	0.55930	0.49	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63070	-0.6719	10	0.41790	T	0.15	-8.5998	19.1259	0.93384	0.0:0.0:1.0:0.0	.	544	Q6ZXV5-2	.	Q	544	ENSP00000266712:R544Q	ENSP00000266712:R544Q	R	+	2	0	TMTC3	87108455	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	9.708000	0.98727	2.593000	0.87608	0.655000	0.94253	CGA		0.433	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		6	50	0	0	0	1	0	6	50				
CSMD2	114784	broad.mit.edu	37	1	34209162	34209162	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:34209162G>C	ENST00000373381.4	-	14	2068	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	591	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S591Y(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTGGGAGACAGGACAAC	0.572																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.S591Y(1)	large_intestine(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1891-1893)tCt>tGt		CUB and Sushi multiple domains 2							67.0	73.0	71.0					1																	34209162		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209162G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1892C>G	1.37:g.34209162G>C	ENSP00000362479:p.Ser631Cys						p.S631C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2068	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	591			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1892C>G		.	.	.	.	.	.	.	.	.	.	G	26.9	4.777243	0.90195	.	.	ENSG00000121904	ENST00000373381	T	0.61158	0.13	5.58	5.58	0.84498	CUB (5);	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90070	0.4162	10	0.59425	D	0.04	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	591;631	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	631	ENSP00000362479:S631C	ENSP00000241312:S591C	S	-	2	0	CSMD2	33981749	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.813000	0.99286	2.782000	0.95742	0.655000	0.94253	TCT		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		8	60	0	0	0	1	0	8	60				
HAUS3	79441	broad.mit.edu	37	4	2240603	2240603	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:2240603C>T	ENST00000243706.4	-	3	1306	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q	HAUS3_ENST00000443786.2_Silent_p.Q359Q|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Silent_p.Q359Q	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	359					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTTTAGCAATCTGCAGATCAA	0.328																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1075-1077)caG>caA		HAUS augmin-like complex, subunit 3							139.0	146.0	144.0					4																	2240603		2202	4300	6502	SO:0001819	synonymous_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2240603C>T	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1077G>A	4.37:g.2240603C>T						POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Silent_p.Q359Q|HAUS3_ENST00000443786.2_Silent_p.Q359Q	p.Q359Q	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			3	1306	-			359					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	ENST00000243706.4	37	c.1077G>A	CCDS33941.1																																																																																				0.328	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		13	87	0	0	0	1	0	13	87				
CYC1	1537	broad.mit.edu	37	8	145151588	145151588	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:145151588C>T	ENST00000318911.4	+	5	786	c.713C>T	c.(712-714)cCt>cTt	p.P238L	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	238					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTACTTTCCTGGCCAGGCC	0.572																																						ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(712-714)cCt>cTt		cytochrome c-1							77.0	71.0	73.0					8																	145151588		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151588C>T	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.713C>T	8.37:g.145151588C>T	ENSP00000317159:p.Pro238Leu						p.P238L	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	786	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		238					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.713C>T	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423172	0.83559	.	.	ENSG00000179091	ENST00000318911	T	0.45668	0.89	5.11	4.23	0.50019	Cytochrome c domain (2);	0.109259	0.64402	D	0.000006	T	0.63931	0.2553	H	0.95437	3.67	0.80722	D	1	P	0.47302	0.893	P	0.49561	0.615	T	0.74090	-0.3777	10	0.87932	D	0	-3.4823	11.61	0.51053	0.0:0.9118:0.0:0.0882	.	238	P08574	CY1_HUMAN	L	238	ENSP00000317159:P238L	ENSP00000317159:P238L	P	+	2	0	CYC1	145223576	0.999000	0.42202	0.959000	0.39883	0.927000	0.56198	2.992000	0.49417	1.145000	0.42336	0.561000	0.74099	CCT		0.572	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		6	73	0	0	0	1	0	6	73				
FCHSD2	9873	broad.mit.edu	37	11	72553832	72553832	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:72553832G>C	ENST00000409418.4	-	17	2143	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C	FCHSD2_ENST00000409263.1_Intron|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409314.1_Missense_Mutation_p.S611C|FCHSD2_ENST00000311172.7_Missense_Mutation_p.S531C|FCHSD2_ENST00000458644.2_Missense_Mutation_p.S451C	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	587	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTCAGGAAAAGATAACTCATC	0.403																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(1831-1833)tCt>tGt		FCH and double SH3 domains 2							108.0	108.0	108.0					11																	72553832		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72553832G>C	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1760C>G	11.37:g.72553832G>C	ENSP00000386722:p.Ser587Cys					ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409418.4_Missense_Mutation_p.S587C|FCHSD2_ENST00000311172.7_Missense_Mutation_p.S531C|FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000458644.2_Missense_Mutation_p.S451C	p.S611C			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		18	2000	-			587			SH3 2.		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1832C>G	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310221	0.81358	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	6.03	6.03	0.97812	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.971;0.983	T	0.75926	-0.3145	10	0.87932	D	0	-0.9535	19.5548	0.95338	0.0:0.0:1.0:0.0	.	451;587	E7ENZ2;O94868	.;FCSD2_HUMAN	C	531;611;587;451	ENSP00000308978:S531C;ENSP00000386987:S611C;ENSP00000386722:S587C;ENSP00000402972:S451C	ENSP00000308978:S531C	S	-	2	0	FCHSD2	72231480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	TCT		0.403	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		5	67	0	0	0	1	0	5	67				
HCN1	348980	broad.mit.edu	37	5	45262532	45262532	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:45262532G>C	ENST00000303230.4	-	8	2221	c.2164C>G	c.(2164-2166)Ccc>Gcc	p.P722A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	722					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P722S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGCGGTGGGGGAGGCATAG	0.662																																						ENST00000303230.4																			1	Substitution - Missense(1)	p.P722S(1)	lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2164-2166)Ccc>Gcc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							35.0	36.0	35.0					5																	45262532		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262532G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2164C>G	5.37:g.45262532G>C	ENSP00000307342:p.Pro722Ala						p.P722A	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2221	-			722						Missense_Mutation	SNP	ENST00000303230.4	37	c.2164C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266694	0.40095	.	.	ENSG00000164588	ENST00000303230	T	0.74947	-0.89	5.52	5.52	0.82312	.	0.092906	0.46758	D	0.000265	T	0.69333	0.3099	L	0.43152	1.355	0.33877	D	0.63568	B	0.30406	0.278	B	0.27887	0.084	T	0.73972	-0.3814	10	0.38643	T	0.18	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	722	O60741	HCN1_HUMAN	A	722	ENSP00000307342:P722A	ENSP00000307342:P722A	P	-	1	0	HCN1	45298289	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.581000	0.74045	2.597000	0.87782	0.655000	0.94253	CCC		0.662	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	37	0	0	0	1	0	7	37				
GRHL1	29841	broad.mit.edu	37	2	10101374	10101374	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:10101374G>C	ENST00000324907.9	+	4	614	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	GRHL1_ENST00000405379.2_Missense_Mutation_p.E160Q|GRHL1_ENST00000324883.5_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	160					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CATCAAGACAGAAACCCAGCC	0.537																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(478-480)Gaa>Caa		grainyhead-like 1 (Drosophila)							101.0	98.0	99.0					2																	10101374		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101374G>C	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.478G>C	2.37:g.10101374G>C	ENSP00000324693:p.Glu160Gln					GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Missense_Mutation_p.E160Q	p.E160Q	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	614	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		160					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.478G>C	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126332	0.77549	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.12879	2.64;2.64	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32188	-0.9916	10	0.37606	T	0.19	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	160	Q9NZI5	GRHL1_HUMAN	Q	160	ENSP00000384209:E160Q;ENSP00000324693:E160Q	ENSP00000324693:E160Q	E	+	1	0	GRHL1	10018825	1.000000	0.71417	0.859000	0.33776	0.965000	0.64279	9.230000	0.95299	2.594000	0.87642	0.563000	0.77884	GAA		0.537	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		4	87	0	0	0	1	0	4	87				
CTNNA2	1496	broad.mit.edu	37	2	79971609	79971609	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:79971609G>A	ENST00000402739.4	+	2	204	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A67T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	67					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						TGTAGAGCAAGCCACTCAGAA	0.468																																						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.(199-201)Gcc>Acc		catenin (cadherin-associated protein), alpha 2							83.0	85.0	84.0					2																	79971609		1942	4132	6074	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.chr2:79971609G>A		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.199G>A	2.37:g.79971609G>A	ENSP00000384638:p.Ala67Thr					CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T	p.A67T			P26232	CTNA2_HUMAN			7	923	+			67					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.199G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.372209	0.95923	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;0.53;-0.16;-0.16;-0.16;-0.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.85373	2.75	0.80722	D	1	P;D;P	0.57571	0.926;0.98;0.909	P;P;P	0.49887	0.451;0.625;0.493	T	0.76680	-0.2870	10	0.41790	T	0.15	.	16.8625	0.86021	0.0:0.0:1.0:0.0	.	67;67;67	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	67;67;67;101;67;67;67	ENSP00000418191:A67T;ENSP00000419295:A67T;ENSP00000387073:A67T;ENSP00000355398:A101T;ENSP00000384638:A67T;ENSP00000444675:A67T;ENSP00000441705:A67T	ENSP00000355398:A101T	A	+	1	0	CTNNA2	79825117	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.582000	0.87167	0.460000	0.39030	GCC		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	35	0	0	0	1	0	6	35				
ABHD15	116236	broad.mit.edu	37	17	27889898	27889898	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:27889898C>G	ENST00000307201.4	-	2	1258	c.1088G>C	c.(1087-1089)tGt>tCt	p.C363S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	363						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TGGGGGTCCACACACGGGGTC	0.612																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1087-1089)tGt>tCt		abhydrolase domain containing 15							77.0	75.0	75.0					17																	27889898		2203	4300	6503	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27889898C>G	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1088G>C	17.37:g.27889898C>G	ENSP00000302657:p.Cys363Ser					RP11-68I3.2_ENST00000581474.1_RNA	p.C363S	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			2	1258	-			363					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.1088G>C	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295741	0.40594	.	.	ENSG00000168792	ENST00000307201	T	0.70869	-0.52	5.84	5.84	0.93424	.	0.068454	0.64402	D	0.000020	T	0.54919	0.1888	N	0.08118	0	0.34594	D	0.715831	B	0.26512	0.151	B	0.25987	0.065	T	0.60606	-0.7230	10	0.37606	T	0.19	-5.0001	18.716	0.91675	0.0:1.0:0.0:0.0	.	363	Q6UXT9	ABH15_HUMAN	S	363	ENSP00000302657:C363S	ENSP00000302657:C363S	C	-	2	0	ABHD15	24914024	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	3.039000	0.49791	2.779000	0.95612	0.655000	0.94253	TGT		0.612	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		6	70	0	0	0	1	0	6	70				
FOLR4	390243	broad.mit.edu	37	11	94040666	94040666	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:94040666G>C	ENST00000440961.2	+	4	584	c.540G>C	c.(538-540)gaG>gaC	p.E180D		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	187					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						ACCTGTGTGAGAAGACTTGGA	0.602																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(538-540)gaG>gaC		folate receptor 4, delta (putative)							81.0	86.0	84.0					11																	94040666		2004	4156	6160	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040666G>C			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.540G>C	11.37:g.94040666G>C	ENSP00000416935:p.Glu180Asp						p.E180D	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			4	584	+			187						Missense_Mutation	SNP	ENST00000440961.2	37	c.540G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.39|13.39	2.221736|2.221736	0.39300|0.39300	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000440961|ENST00000328458	T|.	0.78816|.	-1.21|.	4.33|4.33	0.281|0.281	0.15687|0.15687	.|.	0.240480|.	0.41396|.	D|.	0.000897|.	T|T	0.65811|0.65811	0.2727|0.2727	M|M	0.85373|0.85373	2.75|2.75	0.35211|0.35211	D|D	0.775116|0.775116	B|.	0.25351|.	0.124|.	B|.	0.29663|.	0.105|.	T|T	0.67810|0.67810	-0.5574|-0.5574	10|5	0.66056|.	D|.	0.02|.	-29.0561|-29.0561	4.9331|4.9331	0.13926|0.13926	0.2773:0.1565:0.5662:0.0|0.2773:0.1565:0.5662:0.0	.|.	180|.	A6ND01-2|.	.|.	D|T	180|181	ENSP00000416935:E180D|.	ENSP00000416935:E180D|.	E|R	+|+	3|2	2|0	FOLR4|FOLR4	93680314|93680314	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.884000|0.884000	0.51177|0.51177	3.048000|3.048000	0.49862|0.49862	-0.025000|-0.025000	0.13918|0.13918	-0.339000|-0.339000	0.08088|0.08088	GAG|AGA		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		4	80	0	0	0	1	0	4	80				
SPAG17	200162	broad.mit.edu	37	1	118534050	118534050	+	Silent	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:118534050G>C	ENST00000336338.5	-	37	5528	c.5463C>G	c.(5461-5463)ctC>ctG	p.L1821L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1821						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCAGCTTGAGGAGATCAG	0.363																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5461-5463)ctC>ctG		sperm associated antigen 17							150.0	127.0	135.0					1																	118534050		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118534050G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5463C>G	1.37:g.118534050G>C							p.L1821L	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	37	5528	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1821					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.5463C>G	CCDS899.1																																																																																				0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		3	30	0	0	0	1	0	3	30				
PLEKHG4B	153478	broad.mit.edu	37	5	181757	181757	+	Missense_Mutation	SNP	G	G	T	rs374979115		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:181757G>T	ENST00000283426.6	+	17	3513	c.3463G>T	c.(3463-3465)Gac>Tac	p.D1155Y		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1155							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTGATGAGCGACCGAGTCCC	0.617																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3463-3465)Gac>Tac		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							114.0	104.0	108.0					5																	181757		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:181757G>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3463G>T	5.37:g.181757G>T	ENSP00000283426:p.Asp1155Tyr						p.D1155Y	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	17	3513	+			1155						Missense_Mutation	SNP	ENST00000283426.6	37	c.3463G>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	3.911	-0.020060	0.07634	.	.	ENSG00000153404	ENST00000283426	T	0.33216	1.42	1.12	0.00588	0.14064	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	P	0.42296	0.775	B	0.32762	0.152	T	0.14504	-1.0470	9	0.72032	D	0.01	.	3.9638	0.09423	0.2752:0.0:0.7248:0.0	.	1155	Q96PX9	PKH4B_HUMAN	Y	1155	ENSP00000283426:D1155Y	ENSP00000283426:D1155Y	D	+	1	0	PLEKHG4B	234757	0.994000	0.37717	0.027000	0.17364	0.010000	0.07245	1.073000	0.30691	-0.287000	0.09064	-1.037000	0.02385	GAC		0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		8	83	1	0	1.12685e-05	1	1.22464e-05	8	83				
FAT1	2195	broad.mit.edu	37	4	187630870	187630870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:187630870C>A	ENST00000441802.2	-	2	321	c.112G>T	c.(112-114)Gag>Tag	p.E38*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	38	Cadherin 1. {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						ACGTTGTACTCGAGGTGTGTA	0.493										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.(112-114)Gag>Tag		FAT atypical cadherin 1							60.0	56.0	58.0					4																	187630870		2053	4205	6258	SO:0001587	stop_gained	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.chr4:187630870C>A	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.112G>T	4.37:g.187630870C>A	ENSP00000406229:p.Glu38*	HNSCC(5;0.00058)					p.E38*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	321	-			38			Cadherin 1.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.112G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471083	0.84533	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	.	.	.	4.81	3.97	0.46021	.	0.405411	0.26532	N	0.023855	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.571	0.33569	0.0817:0.157:0.7613:0.0	.	.	.	.	X	38	.	ENSP00000260147:E38X	E	-	1	0	FAT1	187867864	0.937000	0.31787	0.984000	0.44739	0.040000	0.13550	1.473000	0.35387	1.260000	0.44134	-0.702000	0.03669	GAG		0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		5	14	1	0	1.23904e-05	1	1.34102e-05	5	14				
PDE8B	8622	broad.mit.edu	37	5	76649232	76649232	+	Splice_Site	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:76649232G>C	ENST00000264917.5	+	10	1212		c.e10+1		PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000333194.4_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TAATAAGCAGGTATGGTATTA	0.398																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.e10+1		phosphodiesterase 8B							243.0	213.0	223.0					5																	76649232		2203	4300	6503	SO:0001630	splice_region_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76649232G>C	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1167+1G>C	5.37:g.76649232G>C						PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000346042.3_Intron		NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	10	1212	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)						Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Splice_Site	SNP	ENST00000264917.5	37		CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702920	0.68501	.	.	ENSG00000113231	ENST00000340978;ENST00000264917;ENST00000342343;ENST00000333194	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5057	0.95114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8B	76684988	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.429000	0.80309	2.906000	0.99361	0.655000	0.94253	.		0.398	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	Intron	3	35	0	0	0	1	0	3	35				
BAZ2A	11176	broad.mit.edu	37	12	56993873	56993873	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:56993873C>G	ENST00000551812.1	-	25	5099	c.4906G>C	c.(4906-4908)Gag>Cag	p.E1636Q	BAZ2A_ENST00000179765.5_Missense_Mutation_p.E1604Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1634Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1606Q|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1636					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGGGTGATCTCATATGATCTG	0.577																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4810-4812)Gag>Cag		bromodomain adjacent to zinc finger domain, 2A							87.0	88.0	88.0					12																	56993873		2002	4174	6176	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56993873C>G	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4906G>C	12.37:g.56993873C>G	ENSP00000446880:p.Glu1636Gln					BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1634Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1606Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.E1636Q	p.E1604Q			Q9UIF9	BAZ2A_HUMAN			26	5009	-			1636					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.4810G>C	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941264	0.73557	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.73258	-0.48;-0.48;-0.51;-0.73;-0.51	5.51	5.51	0.81932	.	0.152283	0.50627	D	0.000109	T	0.79173	0.4401	L	0.56280	1.765	0.53005	D	0.999961	D;D;P;D	0.89917	0.998;0.988;0.895;1.0	D;D;P;D	0.74674	0.984;0.955;0.728;0.975	T	0.78076	-0.2345	10	0.46703	T	0.11	-21.0751	11.9951	0.53196	0.0:0.9194:0.0:0.0806	.	1634;1632;1636;1609	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	Q	1606;1604;1636;568;1634	ENSP00000368754:E1606Q;ENSP00000179765:E1604Q;ENSP00000446880:E1636Q;ENSP00000448760:E568Q;ENSP00000447941:E1634Q	ENSP00000179765:E1604Q	E	-	1	0	BAZ2A	55280140	1.000000	0.71417	0.994000	0.49952	0.860000	0.49131	5.706000	0.68362	2.763000	0.94921	0.650000	0.86243	GAG		0.577	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		9	97	0	0	0	1	0	9	97				
LSMEM1	286006	broad.mit.edu	37	7	112124917	112124917	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:112124917G>C	ENST00000312849.4	+	2	407	c.46G>C	c.(46-48)Gat>Cat	p.D16H	LSMEM1_ENST00000429049.1_Missense_Mutation_p.D16H|LSMEM1_ENST00000439068.2_Missense_Mutation_p.D16H	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	16						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CATTCAGGAAGATGGAAAGCT	0.453																																						ENST00000312849.4																			0											c.(46-48)Gat>Cat		leucine-rich single-pass membrane protein 1							157.0	148.0	151.0					7																	112124917		2203	4300	6503	SO:0001583	missense	286006							g.chr7:112124917G>C	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.46G>C	7.37:g.112124917G>C	ENSP00000323304:p.Asp16His					LSMEM1_ENST00000439068.2_Missense_Mutation_p.D16H|LSMEM1_ENST00000429049.1_Missense_Mutation_p.D16H	p.D16H	NM_182597.2	NP_872403.1					2	407	+								Q49AR6	Missense_Mutation	SNP	ENST00000312849.4	37	c.46G>C	CCDS5756.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086522	0.94100	.	.	ENSG00000181016	ENST00000439068;ENST00000312849;ENST00000429049	.	.	.	5.81	5.81	0.92471	.	0.532567	0.18572	N	0.137317	T	0.49949	0.1587	L	0.44542	1.39	0.27425	N	0.954175	D	0.56287	0.975	P	0.53062	0.717	T	0.48479	-0.9032	9	0.66056	D	0.02	-6.7448	15.584	0.76468	0.0:0.0:1.0:0.0	.	16	Q8N8F7	CG053_HUMAN	H	16	.	ENSP00000323304:D16H	D	+	1	0	C7orf53	111912153	1.000000	0.71417	0.627000	0.29227	0.868000	0.49771	5.681000	0.68175	2.741000	0.93983	0.655000	0.94253	GAT		0.453	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		8	89	0	0	0	1	0	8	89				
PARP2	10038	broad.mit.edu	37	14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:20824776G>A	ENST00000250416.5	+	13	1323	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	PARP2_ENST00000429687.3_Missense_Mutation_p.M419I|PARP2_ENST00000527915.1_Missense_Mutation_p.M432I	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	432	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1294-1296)atG>atA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							290.0	278.0	282.0					14																	20824776		1938	4141	6079	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20824776G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1296G>A	14.37:g.20824776G>A	ENSP00000250416:p.Met432Ile					PARP2_ENST00000429687.3_Missense_Mutation_p.M419I|PARP2_ENST00000250416.5_Missense_Mutation_p.M432I	p.M432I			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	13	1301	+	all_cancers(95;0.00092)	all_lung(585;0.235)	432			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1296G>A	CCDS41910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.846943|1.846943	0.32606|0.32606	.|.	.|.	ENSG00000129484|ENSG00000129484	ENST00000539930|ENST00000429687;ENST00000250416;ENST00000527915	.|T;T;T	.|0.12984	.|2.63;2.63;2.63	5.43|5.43	2.54|2.54	0.30619|0.30619	.|Poly(ADP-ribose) polymerase, catalytic domain (2);	.|0.082223	.|0.50627	.|D	.|0.000115	T|T	0.03095|0.03095	0.0091|0.0091	N|N	0.00729|0.00729	-1.24|-1.24	0.22701|0.22701	N|N	0.998833|0.998833	.|B;B;B	.|0.23990	.|0.095;0.001;0.006	.|B;B;B	.|0.19946	.|0.027;0.0;0.006	T|T	0.40194|0.40194	-0.9576|-0.9576	5|10	.|0.21540	.|T	.|0.41	-4.9925|-4.9925	5.2436|5.2436	0.15485|0.15485	0.2278:0.0:0.6186:0.1536|0.2278:0.0:0.6186:0.1536	.|.	.|345;419;432	.|B4DV82;Q9UGN5-2;Q9UGN5	.|.;.;PARP2_HUMAN	K|I	109|419;432;432	.|ENSP00000392972:M419I;ENSP00000250416:M432I;ENSP00000432283:M432I	.|ENSP00000250416:M432I	E|M	+|+	1|3	0|0	PARP2|PARP2	19894616|19894616	0.949000|0.949000	0.32298|0.32298	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	0.153000|0.153000	0.16323|0.16323	0.830000|0.830000	0.34757|0.34757	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			14	188	0	0	0	1	0	14	188				
NOC3L	64318	broad.mit.edu	37	10	96116974	96116974	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:96116974G>C	ENST00000371361.3	-	4	565	c.465C>G	c.(463-465)atC>atG	p.I155M	NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	155					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)				TTTTATCTTTGATAGGAAGTA	0.368																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(463-465)atC>atG		nucleolar complex associated 3 homolog (S. cerevisiae)							148.0	140.0	143.0					10																	96116974		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96116974G>C	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.465C>G	10.37:g.96116974G>C	ENSP00000360412:p.Ile155Met					NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M	p.I155M	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			4	565	-		Colorectal(252;0.0897)	155					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.465C>G	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099865	0.56183	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.32988	1.43;1.43	5.18	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.32530	0.975	0.51012	D	0.999905	D	0.76494	0.999	D	0.70935	0.971	T	0.16837	-1.0389	10	0.87932	D	0	0.0436	4.6399	0.12543	0.2862:0.0:0.5659:0.1478	.	155	Q8WTT2	NOC3L_HUMAN	M	155	ENSP00000360412:I155M;ENSP00000360401:I155M	ENSP00000360401:I155M	I	-	3	3	NOC3L	96106964	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.811000	0.55620	0.663000	0.31027	0.561000	0.74099	ATC		0.368	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		5	65	0	0	0	1	0	5	65				
TLL2	7093	broad.mit.edu	37	10	98173032	98173032	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:98173032T>A	ENST00000357947.3	-	8	1190	c.965A>T	c.(964-966)aAt>aTt	p.N322I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	322	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTGACGCCATTGTCATCTTG	0.522																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(964-966)aAt>aTt		tolloid-like 2							68.0	63.0	64.0					10																	98173032		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98173032T>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.965A>T	10.37:g.98173032T>A	ENSP00000350630:p.Asn322Ile					TLL2_ENST00000469598.1_5'UTR	p.N322I	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	8	1190	-		Colorectal(252;0.0846)	322			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.965A>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840600	0.51057	.	.	ENSG00000095587	ENST00000357947	T	0.65178	-0.14	5.28	4.15	0.48705	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.274240	0.25310	N	0.031589	T	0.54240	0.1846	L	0.58969	1.84	0.41082	D	0.985533	P	0.35468	0.503	B	0.35607	0.206	T	0.51466	-0.8702	10	0.38643	T	0.18	.	6.4914	0.22117	0.0:0.0799:0.1564:0.7637	.	322	Q9Y6L7	TLL2_HUMAN	I	322	ENSP00000350630:N322I	ENSP00000350630:N322I	N	-	2	0	TLL2	98163022	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.824000	0.39072	0.855000	0.35359	0.374000	0.22700	AAT		0.522	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			10	31	0	0	0	1	0	10	31				
PNPLA8	50640	broad.mit.edu	37	7	108113089	108113089	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:108113089G>C	ENST00000422087.1	-	12	2511	c.2105C>G	c.(2104-2106)cCt>cGt	p.P702R	PNPLA8_ENST00000388728.5_Missense_Mutation_p.P640R|PNPLA8_ENST00000453144.1_Missense_Mutation_p.P602R|PNPLA8_ENST00000426128.2_Missense_Mutation_p.P640R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.P702R|PNPLA8_ENST00000257694.8_Missense_Mutation_p.P702R	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	702					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GGTGTCAGGAGGTAACAGGCC	0.383																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1918-1920)cCt>cGt		patatin-like phospholipase domain containing 8							64.0	66.0	65.0					7																	108113089		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108113089G>C	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2105C>G	7.37:g.108113089G>C	ENSP00000410804:p.Pro702Arg					PNPLA8_ENST00000422087.1_Missense_Mutation_p.P702R|PNPLA8_ENST00000453144.1_Missense_Mutation_p.P602R|PNPLA8_ENST00000257694.8_Missense_Mutation_p.P702R|PNPLA8_ENST00000388728.5_Missense_Mutation_p.P640R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.P702R	p.P640R	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			10	2044	-			702			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1919C>G	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672695	0.67928	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.41	5.41	0.78517	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.106862	0.64402	D	0.000003	D	0.86707	0.5997	M	0.76938	2.355	0.32246	N	0.572103	D	0.67145	0.996	D	0.66602	0.945	D	0.88687	0.3206	10	0.51188	T	0.08	.	14.4107	0.67113	0.0:0.0:0.8524:0.1476	.	702	Q9NP80	PLPL8_HUMAN	R	637;702;640;702;602;702;602	ENSP00000257694:P702R;ENSP00000373380:P640R;ENSP00000410804:P702R;ENSP00000387789:P602R;ENSP00000406779:P702R;ENSP00000402274:P602R	ENSP00000257694:P702R	P	-	2	0	PNPLA8	107900325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.484000	0.73621	2.691000	0.91804	0.650000	0.86243	CCT		0.383	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		5	48	0	0	0	1	0	5	48				
TRPC6	7225	broad.mit.edu	37	11	101347136	101347136	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:101347136G>T	ENST00000344327.3	-	6	2064	c.1640C>A	c.(1639-1641)gCa>gAa	p.A547E	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.A492E|TRPC6_ENST00000348423.4_Missense_Mutation_p.A431E	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	547					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGCCAAAATGCCATGAATCT	0.408																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1639-1641)gCa>gAa		transient receptor potential cation channel, subfamily C, member 6							111.0	97.0	102.0					11																	101347136		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347136G>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1640C>A	11.37:g.101347136G>T	ENSP00000340913:p.Ala547Glu					TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.A431E|TRPC6_ENST00000360497.4_Missense_Mutation_p.A492E	p.A547E	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	2064	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	547					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1640C>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105421	0.94245	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;D;D	0.97959	-2.31;-4.63;-4.63	5.67	5.67	0.87782	Ion transport (1);	0.093907	0.64402	D	0.000001	D	0.99052	0.9675	M	0.92833	3.35	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.68765	0.933;0.928;0.96	D	0.99364	1.0918	10	0.87932	D	0	-15.2207	20.1403	0.98057	0.0:0.0:1.0:0.0	.	492;431;547	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	E	547;431;492	ENSP00000340913:A547E;ENSP00000343672:A431E;ENSP00000353687:A492E	ENSP00000340913:A547E	A	-	2	0	TRPC6	100852346	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.813000	0.99286	2.831000	0.97527	0.643000	0.83706	GCA		0.408	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		4	71	1	0	0.00909568	1	0.00930803	4	71				
EML5	161436	broad.mit.edu	37	14	89093259	89093259	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:89093259G>C	ENST00000380664.5	-	33	4638	c.4639C>G	c.(4639-4641)Ctt>Gtt	p.L1547V	EML5_ENST00000554922.1_Missense_Mutation_p.L1555V|EML5_ENST00000352093.5_Missense_Mutation_p.L1509V|EML5_ENST00000553320.1_5'UTR			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1547						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTGCTAAGAAGAGCTCTTCCT	0.458																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4663-4665)Ctt>Gtt		echinoderm microtubule associated protein like 5							127.0	124.0	125.0					14																	89093259		1936	4139	6075	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89093259G>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4639C>G	14.37:g.89093259G>C	ENSP00000370039:p.Leu1547Val					EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Missense_Mutation_p.L1547V|EML5_ENST00000352093.5_Missense_Mutation_p.L1509V	p.L1555V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			35	4911	-			1547					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.4663C>G	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646170	0.47258	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.37058	1.22;1.22;1.22	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.074526	0.53938	D	0.000059	T	0.41834	0.1176	M	0.66560	2.04	0.41203	D	0.986383	B;B	0.28713	0.22;0.029	B;B	0.36666	0.23;0.053	T	0.40289	-0.9571	10	0.52906	T	0.07	-15.9658	11.9773	0.53100	0.0788:0.0:0.9212:0.0	.	1555;1547	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	V	1555;1509;1547	ENSP00000451998:L1555V;ENSP00000298315:L1509V;ENSP00000370039:L1547V	ENSP00000298315:L1509V	L	-	1	0	EML5	88163012	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.097000	0.57741	2.641000	0.89580	0.655000	0.94253	CTT		0.458	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	76	0	0	0	1	0	4	76				
RPS15A	6210	broad.mit.edu	37	16	18796121	18796121	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:18796121C>T	ENST00000565420.1	-	4	606	c.238G>A	c.(238-240)Gac>Aac	p.D80N	RPS15A_ENST00000563390.1_Missense_Mutation_p.D80N|RPS15A_ENST00000576436.1_Silent_p.*112*|RPS15A_ENST00000569083.1_Missense_Mutation_p.D80N|RPS15A_ENST00000322989.4_Missense_Mutation_p.D80N|RPS15A_ENST00000575669.1_5'UTR			P62244	RS15A_HUMAN	ribosomal protein S15a	80					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2						AGTTGCACGTCAAATCTGGGG	0.378																																						ENST00000322989.4																			0				endometrium(1)|large_intestine(1)	2						c.(238-240)Gac>Aac		ribosomal protein S15a							100.0	102.0	101.0					16																	18796121		2197	4300	6497	SO:0001583	missense	6210				endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr16:18796121C>T	AB007154	CCDS10571.1	16p12.3	2011-04-05			ENSG00000134419	ENSG00000134419		"""S ribosomal proteins"""	10389	protein-coding gene	gene with protein product		603674				9582194	Standard	NM_001019		Approved	S15A	uc002dfi.1	P62244	OTTHUMG00000131365	ENST00000565420.1:c.238G>A	16.37:g.18796121C>T	ENSP00000458115:p.Asp80Asn					RPS15A_ENST00000565420.1_Missense_Mutation_p.D80N|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000569083.1_Missense_Mutation_p.D80N|RPS15A_ENST00000563390.1_Missense_Mutation_p.D80N|RPS15A_ENST00000576436.1_Silent_p.*112*	p.D80N	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN			4	333	-			80					P39027|P39031|Q3MHD9|Q8C023|Q9BV24	Missense_Mutation	SNP	ENST00000565420.1	37	c.238G>A	CCDS10571.1	.	.	.	.	.	.	.	.	.	.	c	33	5.260277	0.95368	.	.	ENSG00000134419	ENST00000322989	.	.	.	4.69	4.69	0.59074	.	0.052670	0.64402	N	0.000001	T	0.53417	0.1795	L	0.31845	0.965	0.80722	D	1	B	0.06786	0.001	B	0.19148	0.024	T	0.48714	-0.9011	9	0.32370	T	0.25	.	17.5952	0.88010	0.0:1.0:0.0:0.0	.	80	P62244	RS15A_HUMAN	N	80	.	ENSP00000318646:D80N	D	-	1	0	RPS15A	18703622	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.932000	0.70121	2.321000	0.78463	0.563000	0.77884	GAC		0.378	RPS15A-005	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435778.1	NM_001019		16	85	0	0	0	1	0	16	85				
GOLGA2P5	55592	broad.mit.edu	37	12	100551501	100551501	+	RNA	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:100551501G>C	ENST00000397112.4	-	0	1697				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						AGCTACAGCTGAGTTGAAAAA	0.607																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															20.0	21.0	20.0					12																	100551501		2202	4300	6502			55592							g.chr12:100551501G>C																													12.37:g.100551501G>C								NR_036632.1						0	1697	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.607	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			4	29	0	0	0	1	0	4	29				
GPSM3	63940	broad.mit.edu	37	6	32160012	32160012	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:32160012C>T	ENST00000375040.3	-	2	450	c.58G>A	c.(58-60)Gag>Aag	p.E20K	GPSM3_ENST00000375043.3_Missense_Mutation_p.E20K|PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Missense_Mutation_p.E17K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	20	Pro-rich.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						CAGCCTTCCTCATCCTGAGGG	0.622																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(58-60)Gag>Aag		G-protein signaling modulator 3							33.0	36.0	35.0					6																	32160012		2203	4299	6502	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32160012C>T	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.58G>A	6.37:g.32160012C>T	ENSP00000364180:p.Glu20Lys					GPSM3_ENST00000487761.1_Missense_Mutation_p.E17K|GPSM3_ENST00000375043.3_Missense_Mutation_p.E20K	p.E20K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			2	450	-			20			Pro-rich.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.58G>A	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043210	0.19748	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	3.25	3.25	0.37280	.	0.908173	0.09132	U	0.844193	T	0.09024	0.0223	N	0.14661	0.345	0.24758	N	0.992945	P	0.34522	0.455	B	0.25759	0.063	T	0.12811	-1.0533	9	0.56958	D	0.05	-5.9856	10.1556	0.42820	0.0:1.0:0.0:0.0	.	20	Q9Y4H4	GPSM3_HUMAN	K	17;20;20	.	ENSP00000364180:E20K	E	-	1	0	GPSM3	32267990	0.998000	0.40836	0.882000	0.34594	0.658000	0.38924	1.625000	0.37029	1.838000	0.53458	0.467000	0.42956	GAG		0.622	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		4	30	0	0	0	1	0	4	30				
NFRKB	4798	broad.mit.edu	37	11	129739840	129739840	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:129739840C>G	ENST00000446488.3	-	23	3183	c.3080G>C	c.(3079-3081)aGt>aCt	p.S1027T	NFRKB_ENST00000524794.1_Missense_Mutation_p.S1052T|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1027T|NFRKB_ENST00000524746.1_Missense_Mutation_p.S1027T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1027					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTGGCTGAACTGGCCTTGGC	0.542																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3079-3081)aGt>aCt		nuclear factor related to kappaB binding protein							178.0	139.0	152.0					11																	129739840		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129739840C>G		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3080G>C	11.37:g.129739840C>G	ENSP00000400476:p.Ser1027Thr					NFRKB_ENST00000524746.1_Missense_Mutation_p.S1027T|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1027T|NFRKB_ENST00000524794.1_Missense_Mutation_p.S1052T	p.S1027T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	3183	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1027					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.3080G>C	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448482	0.26074	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.03	0.43	0.16515	.	0.588170	0.18669	N	0.134488	T	0.12902	0.0313	N	0.14661	0.345	0.21950	N	0.999454	P;B;B	0.43231	0.801;0.0;0.0	B;B;B	0.37780	0.258;0.0;0.0	T	0.15492	-1.0435	9	0.25751	T	0.34	-0.0614	4.8061	0.13321	0.1376:0.4996:0.2835:0.0793	.	1027;1026;1052	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	T	1027;1027;1052;1027	.	ENSP00000303800:S1027T	S	-	2	0	NFRKB	129245050	0.459000	0.25768	0.442000	0.26870	0.955000	0.61496	0.233000	0.17911	0.458000	0.26988	0.655000	0.94253	AGT		0.542	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		6	87	0	0	0	1	0	6	87				
ST18	9705	broad.mit.edu	37	8	53025818	53025818	+	Silent	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:53025818G>T	ENST00000276480.7	-	26	3767	c.3084C>A	c.(3082-3084)tcC>tcA	p.S1028S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1028					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)				TGCATTCCGGGGAATAGTCCC	0.453																																						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.(3082-3084)tcC>tcA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							168.0	147.0	154.0					8																	53025818		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53025818G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3084C>A	8.37:g.53025818G>T							p.S1028S	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			26	3767	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	1028					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.3084C>A	CCDS6149.1																																																																																				0.453	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			13	48	1	0	7.93312e-07	1	8.69338e-07	13	48				
PCDHA5	56143	broad.mit.edu	37	5	140203449	140203449	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:140203449G>A	ENST00000529859.1	+	1	2089	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V697M|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V697M|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	697					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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTCAACGTGTACCTGAT	0.687																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(2089-2091)Gtg>Atg									62.0	62.0	62.0					5																	140203449		2203	4299	6502	SO:0001583	missense	56143							g.chr5:140203449G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2089G>A	5.37:g.140203449G>A	ENSP00000436557:p.Val697Met					PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V697M|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V697M|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.V697M	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2089	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.2089G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122500	0.37436	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.7;0.66;0.7	4.06	2.22	0.28083	.	.	.	.	.	T	0.55210	0.1906	M	0.91612	3.225	0.21290	N	0.999734	P;P;B	0.45283	0.773;0.855;0.338	B;B;B	0.40864	0.14;0.342;0.176	T	0.54583	-0.8272	9	0.66056	D	0.02	.	9.0125	0.36150	0.3237:0.0:0.6763:0.0	.	697;697;697	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	M	697	ENSP00000433416:V697M;ENSP00000436557:V697M;ENSP00000367366:V697M	ENSP00000367366:V697M	V	+	1	0	PCDHA5	140183633	0.031000	0.19500	0.998000	0.56505	0.387000	0.30353	-0.072000	0.11486	0.847000	0.35167	-0.320000	0.08662	GTG		0.687	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		16	67	0	0	0	1	0	16	67				
PTDSS1	9791	broad.mit.edu	37	8	97311987	97311987	+	Silent	SNP	C	C	A	rs371518710		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:97311987C>A	ENST00000517309.1	+	6	992	c.666C>A	c.(664-666)atC>atA	p.I222I	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Silent_p.I76I|PTDSS1_ENST00000522072.1_Silent_p.I19I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	222					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TTCTGGACATCCTGTTGTGCA	0.493																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(664-666)atC>atA		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						227.0	202.0	210.0					8																	97311987		2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97311987C>A	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.666C>A	8.37:g.97311987C>A						PTDSS1_ENST00000522072.1_Silent_p.I19I|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Silent_p.I76I	p.I222I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			6	992	+	Breast(36;6.18e-05)		222					E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.666C>A	CCDS6271.1																																																																																				0.493	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			7	133	1	0	0.248553	1	0.249501	7	133				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	33	0	0	0	1	0	4	33				
FILIP1L	11259	broad.mit.edu	37	3	99568154	99568154	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:99568154C>A	ENST00000354552.3	-	5	2836	c.2366G>T	c.(2365-2367)aGa>aTa	p.R789I	FILIP1L_ENST00000471562.1_Missense_Mutation_p.R549I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R549I|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R365I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R789I|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	789						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATCGGAAATTCTTCTTCCATT	0.433																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2365-2367)aGa>aTa		filamin A interacting protein 1-like							183.0	169.0	173.0					3																	99568154		1855	4100	5955	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568154C>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2366G>T	3.37:g.99568154C>A	ENSP00000346560:p.Arg789Ile					FILIP1L_ENST00000354552.3_Missense_Mutation_p.R789I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R549I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R549I|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R365I	p.R789I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2836	-			789					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2366G>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319859	0.23994	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.37752	1.49;1.18;1.18;1.49;1.18;1.22	5.74	2.79	0.32731	.	0.249979	0.28766	N	0.014204	T	0.30166	0.0756	L	0.52573	1.65	0.44603	D	0.997579	B;B	0.11235	0.004;0.002	B;B	0.16722	0.016;0.007	T	0.08848	-1.0702	10	0.66056	D	0.02	-4.9579	6.6657	0.23039	0.1284:0.6537:0.0:0.2179	.	789;789	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	789;365;549;789;549;535;549	ENSP00000346560:R789I;ENSP00000417774:R365I;ENSP00000419642:R549I;ENSP00000327880:R789I;ENSP00000373192:R549I;ENSP00000419874:R549I	ENSP00000327880:R789I	R	-	2	0	FILIP1L	101050844	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.313000	0.51935	0.257000	0.21650	0.563000	0.77884	AGA		0.433	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		6	139	1	0	3.59834e-05	1	3.847e-05	6	139				
PTTG1IP	754	broad.mit.edu	37	21	46281125	46281125	+	Missense_Mutation	SNP	G	G	A	rs188877011		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr21:46281125G>A	ENST00000330938.3	-	3	450	c.230C>T	c.(229-231)cCg>cTg	p.P77L	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Missense_Mutation_p.P77L|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.P56L	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	77	PSI.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AAGGGAAGCCGGTGGCAAGAC	0.433																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(229-231)cCg>cTg		pituitary tumor-transforming 1 interacting protein							109.0	97.0	101.0					21																	46281125		2203	4300	6503	SO:0001583	missense	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46281125G>A	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.230C>T	21.37:g.46281125G>A	ENSP00000328325:p.Pro77Leu					PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.P56L|PTTG1IP_ENST00000397887.3_Missense_Mutation_p.P77L|PTTG1IP_ENST00000494690.1_5'UTR	p.P77L	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	3	450	-			77			PSI.		B2RDP7|D3DSL9|Q9NS09	Missense_Mutation	SNP	ENST00000330938.3	37	c.230C>T	CCDS13715.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296806	0.60086	.	.	ENSG00000183255	ENST00000397887;ENST00000330938;ENST00000397886	T;T;T	0.68903	-0.36;-0.36;-0.36	5.1	5.1	0.69264	.	0.171002	0.52532	D	0.000063	T	0.73393	0.3581	M	0.83223	2.63	0.80722	D	1	D	0.55605	0.972	P	0.44623	0.455	T	0.80439	-0.1382	10	0.72032	D	0.01	-50.534	17.3422	0.87299	0.0:0.0:1.0:0.0	.	77	P53801	PTTG_HUMAN	L	77;77;56	ENSP00000380984:P77L;ENSP00000328325:P77L;ENSP00000380983:P56L	ENSP00000328325:P77L	P	-	2	0	PTTG1IP	45105553	1.000000	0.71417	0.540000	0.28089	0.045000	0.14185	7.623000	0.83113	2.384000	0.81235	0.650000	0.86243	CCG		0.433	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			8	43	0	0	0	1	0	8	43				
IKBKAP	8518	broad.mit.edu	37	9	111665181	111665181	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:111665181C>T	ENST00000374647.5	-	16	2099	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G249R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	598					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGAAATCCACCAGAGTTC	0.438																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1792-1794)Gga>Aga		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							111.0	110.0	111.0					9																	111665181		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111665181C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1792G>A	9.37:g.111665181C>T	ENSP00000363779:p.Gly598Arg					IKBKAP_ENST00000537196.1_Missense_Mutation_p.G249R	p.G598R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			16	2099	-			598					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.1792G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638050	0.87760	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.27402	2.07;1.67	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.85373	2.75	0.39601	D	0.969733	D	0.89917	1.0	D	0.80764	0.994	T	0.61821	-0.6984	10	0.33940	T	0.23	-12.2216	16.9341	0.86199	0.0:1.0:0.0:0.0	.	598	O95163	ELP1_HUMAN	R	598;249	ENSP00000363779:G598R;ENSP00000439367:G249R	ENSP00000363779:G598R	G	-	1	0	IKBKAP	110705002	0.999000	0.42202	0.494000	0.27515	0.966000	0.64601	5.995000	0.70631	2.592000	0.87571	0.555000	0.69702	GGA		0.438	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			4	48	0	0	0	1	0	4	48				
ZAP70	7535	broad.mit.edu	37	2	98354246	98354246	+	Silent	SNP	C	C	G	rs201016309		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:98354246C>G	ENST00000264972.5	+	12	1724	c.1509C>G	c.(1507-1509)ctC>ctG	p.L503L	ZAP70_ENST00000442208.1_Silent_p.L377L|ZAP70_ENST00000451498.2_Silent_p.L196L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	503	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGTGGCCGCTCAAGTGGTACG	0.637																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1507-1509)ctC>ctG		zeta-chain (TCR) associated protein kinase 70kDa							102.0	111.0	108.0					2																	98354246		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354246C>G	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1509C>G	2.37:g.98354246C>G						ZAP70_ENST00000451498.2_Silent_p.L196L|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.L377L	p.L503L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			12	1724	+			503			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1509C>G	CCDS33254.1																																																																																				0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			6	123	0	0	0	1	0	6	123				
RC3H1	149041	broad.mit.edu	37	1	173931010	173931010	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:173931010C>G	ENST00000367696.2	-	12	2406	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	RC3H1_ENST00000367694.2_Missense_Mutation_p.E685D|RC3H1_ENST00000258349.4_Missense_Mutation_p.E685D			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	685	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTCGGAATATCTCTTCTCTTG	0.478																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(2053-2055)gaG>gaC		ring finger and CCCH-type domains 1							314.0	308.0	310.0					1																	173931010		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173931010C>G	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2055G>C	1.37:g.173931010C>G	ENSP00000356669:p.Glu685Asp					RC3H1_ENST00000367694.2_Missense_Mutation_p.E685D|RC3H1_ENST00000258349.4_Missense_Mutation_p.E685D	p.E685D			Q5TC82	RC3H1_HUMAN			12	2406	-			685			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2055G>C	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	7.540	0.660500	0.14645	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.40225	1.04;1.04;1.04	5.78	3.9	0.45041	.	0.252348	0.45606	D	0.000354	T	0.08492	0.0211	L	0.31664	0.95	0.33505	D	0.590352	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.22103	-1.0226	10	0.02654	T	1	-9.4722	5.4709	0.16670	0.0:0.5813:0.1432:0.2755	.	685;685;685;685	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	D	685	ENSP00000356669:E685D;ENSP00000258349:E685D;ENSP00000356667:E685D	ENSP00000258349:E685D	E	-	3	2	RC3H1	172197633	0.920000	0.31207	1.000000	0.80357	0.992000	0.81027	-0.072000	0.11486	1.426000	0.47256	0.650000	0.86243	GAG		0.478	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		10	178	0	0	0	1	0	10	178				
CADPS2	93664	broad.mit.edu	37	7	122033559	122033559	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:122033559T>G	ENST00000449022.2	-	21	2843	c.2824A>C	c.(2824-2826)Atg>Ctg	p.M942L	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.M936L|CADPS2_ENST00000334010.7_Missense_Mutation_p.M940L|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.M936L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	942	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GAAGACTCCATGAGATCCACA	0.458																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2818-2820)Atg>Ctg		Ca++-dependent secretion activator 2							140.0	132.0	134.0					7																	122033559		1926	4159	6085	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033559T>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2824A>C	7.37:g.122033559T>G	ENSP00000398481:p.Met942Leu					CADPS2_ENST00000313070.7_Missense_Mutation_p.M936L|CADPS2_ENST00000412584.2_Missense_Mutation_p.M936L|CADPS2_ENST00000449022.2_Missense_Mutation_p.M942L|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA	p.M940L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			19	3239	-			942			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2818A>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.839814|4.839814	0.91117|0.91117	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Munc13 homology 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55924|0.55924	0.1951|0.1951	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.71674	.|0.779;0.998;0.779;0.65	.|P;D;P;P	.|0.81914	.|0.74;0.995;0.722;0.743	T|T	0.55095|0.55095	-0.8194|-0.8194	5|10	.|0.39692	.|T	.|0.17	-23.2688|-23.2688	16.1307|16.1307	0.81436|0.81436	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|946;936;942;936	.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.|.;.;CAPS2_HUMAN;.	P|L	584|115;936;940;947;903;936;942	.|ENSP00000325581:M936L;ENSP00000333940:M940L;ENSP00000400401:M936L;ENSP00000398481:M942L	.|ENSP00000325581:M936L	H|M	-|-	2|1	0|0	CADPS2|CADPS2	121820795|121820795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.996000|7.996000	0.88334|0.88334	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		25	64	0	0	0	1	0	25	64				
AKAP4	8852	broad.mit.edu	37	X	49957773	49957773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:49957773C>A	ENST00000376056.2	-	5	1714	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E531*|AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E522*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGATCTTTTCTCCTTTCTCA	0.463																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1564-1566)Gaa>Taa		A kinase (PRKA) anchor protein 4							205.0	163.0	177.0					X																	49957773		2203	4300	6503	SO:0001587	stop_gained	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957773C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1564G>T	X.37:g.49957773C>A	ENSP00000365224:p.Glu522*					AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E522*|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E531*|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR	p.E522*			Q5JQC9	AKAP4_HUMAN			5	1714	-	Ovarian(276;0.236)		531						Nonsense_Mutation	SNP	ENST00000376056.2	37	c.1564G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176837	0.57692	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	.	.	.	4.93	4.03	0.46877	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.51233	D	0.999913	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.1708	10.1598	0.42844	0.0:0.8015:0.1985:0.0	.	.	.	.	X	522;531;522	.	.	E	-	1	0	AKAP4	49844513	0.987000	0.35691	0.028000	0.17463	0.143000	0.21401	2.331000	0.43894	0.830000	0.34757	0.525000	0.51046	GAA		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		7	58	1	0	8.12818e-05	1	8.58519e-05	7	58				
OR5AK2	390181	broad.mit.edu	37	11	56756711	56756711	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:56756711C>G	ENST00000326855.2	+	1	365	c.323C>G	c.(322-324)gCa>gGa	p.A108G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GCAACATTTGCAACCAGTGAC	0.423																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(322-324)gCa>gGa		olfactory receptor, family 5, subfamily AK, member 2							124.0	111.0	115.0					11																	56756711		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756711C>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.323C>G	11.37:g.56756711C>G	ENSP00000322784:p.Ala108Gly						p.A108G	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	365	+			108					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.323C>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	0.547	-0.851281	0.02651	.	.	ENSG00000181273	ENST00000326855	T	0.00402	7.56	3.99	-0.302	0.12796	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001115	T	0.00210	0.0006	N	0.13272	0.32	0.09310	N	1	B	0.20368	0.044	B	0.19946	0.027	T	0.39121	-0.9629	10	0.34782	T	0.22	-1.3779	5.309	0.15819	0.0:0.5064:0.1418:0.3518	.	108	Q8NH90	O5AK2_HUMAN	G	108	ENSP00000322784:A108G	ENSP00000322784:A108G	A	+	2	0	OR5AK2	56513287	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.564000	0.05936	-0.134000	0.11516	0.194000	0.17425	GCA		0.423	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		11	74	0	0	0	1	0	11	74				
SLC5A7	60482	broad.mit.edu	37	2	108604727	108604727	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:108604727G>A	ENST00000264047.2	+	2	392	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC5A7_ENST00000409059.1_Missense_Mutation_p.S39N|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	39					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAGAGCGCAGCGAAGCCATC	0.507																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(115-117)aGc>aAc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						147.0	130.0	136.0					2																	108604727		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604727G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.116G>A	2.37:g.108604727G>A	ENSP00000264047:p.Ser39Asn					SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S39N	p.S39N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			2	392	+			39					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.116G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051274	0.75960	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.91996	-2.95;-2.95	5.76	5.76	0.90799	.	0.076299	0.85682	D	0.000000	D	0.92632	0.7659	M	0.77820	2.39	0.80722	D	1	B	0.25719	0.132	B	0.28385	0.089	D	0.89072	0.3470	10	0.33940	T	0.23	-5.8841	20.3242	0.98691	0.0:0.0:1.0:0.0	.	39	Q9GZV3	SC5A7_HUMAN	N	39	ENSP00000387346:S39N;ENSP00000264047:S39N	ENSP00000264047:S39N	S	+	2	0	SLC5A7	107971159	1.000000	0.71417	0.978000	0.43139	0.771000	0.43674	7.596000	0.82721	2.882000	0.98803	0.655000	0.94253	AGC		0.507	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			4	72	0	0	0	1	0	4	72				
REXO1	57455	broad.mit.edu	37	19	1827499	1827499	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:1827499G>A	ENST00000170168.4	-	2	1383	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	430						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGTCCCTTCCGGCCGCTCTGC	0.706																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1288-1290)cCg>cTg		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827499G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1289C>T	19.37:g.1827499G>A	ENSP00000170168:p.Pro430Leu						p.P430L	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_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)	2	1383	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	430					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1289C>T	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.348464	0.01266	.	.	ENSG00000079313	ENST00000170168	T	0.11495	2.77	4.12	-2.8	0.05823	.	0.905172	0.09179	N	0.837774	T	0.06645	0.0170	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.41910	-0.9482	10	0.27082	T	0.32	-9.3167	5.8515	0.18696	0.4123:0.0:0.4557:0.1319	.	430	Q8N1G1	REXO1_HUMAN	L	430	ENSP00000170168:P430L	ENSP00000170168:P430L	P	-	2	0	REXO1	1778499	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.146000	0.16180	-0.165000	0.10908	-1.737000	0.00689	CCG		0.706	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		6	29	0	0	0	1	0	6	29				
TAZ	6901	broad.mit.edu	37	X	153648522	153648522	+	Silent	SNP	C	C	T	rs200674881		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:153648522C>T	ENST00000369776.4	+	5	613	c.528C>T	c.(526-528)caC>caT	p.H176H	TAZ_ENST00000350743.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000475699.1_Intron			Q9GZV5	WWTR1_HUMAN	tafazzin	129					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CTCCACCCCACGTCTGGCCTT	0.642													C|||	4	0.0010596	0.0015	0.0029	3775	,	,		13092	0.0		0.0	False		,,,				2504	0.0					ENST00000369776.4																			0				lung(1)	1						c.(526-528)caC>caT		tafazzin			,,,	16,3819		0,13,3,1619,568	158.0	142.0	147.0		,,,	-8.9	0.0	X		147	0,6728		0,0,0,2428,1872	no	intron,intron,intron,intron	TAZ	NM_000116.3,NM_181311.2,NM_181312.2,NM_181313.2	,,,	0,13,3,4047,2440	TT,TC,T,CC,C		0.0,0.4172,0.1515	,,,	,,,	153648522	16,10547	2203	4300	6503	SO:0001819	synonymous_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648522C>T	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000369776.4:c.528C>T	X.37:g.153648522C>T						TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron	p.H176H			Q16635	TAZ_HUMAN			5	613	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		215			Hydrophilic.		D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000369776.4	37	c.528C>T																																																																																					0.642	TAZ-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000080943.2			10	92	0	0	0	1	0	10	92				
ERICH3	127254	broad.mit.edu	37	1	75037532	75037532	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:75037532C>T	ENST00000326665.5	-	14	4080	c.3862G>A	c.(3862-3864)Gaa>Aaa	p.E1288K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1288	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCACCGCTTCCTCCCTGAAC	0.567																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3862-3864)Gaa>Aaa		chromosome 1 open reading frame 173							203.0	170.0	181.0					1																	75037532		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037532C>T																												ENST00000326665.5:c.3862G>A	1.37:g.75037532C>T	ENSP00000322609:p.Glu1288Lys					C1orf173_ENST00000433746.2_5'UTR	p.E1288K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4080	-			1288			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3862G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034907	0.54896	.	.	ENSG00000178965	ENST00000326665	T	0.14766	2.48	4.28	3.35	0.38373	.	.	.	.	.	T	0.06050	0.0157	N	0.19112	0.55	0.21105	N	0.999781	P	0.50156	0.932	P	0.53450	0.726	T	0.34329	-0.9833	9	0.17369	T	0.5	-0.7699	12.0354	0.53423	0.0:0.6648:0.3352:0.0	.	1288	Q5RHP9	CA173_HUMAN	K	1288	ENSP00000322609:E1288K	ENSP00000322609:E1288K	E	-	1	0	C1orf173	74810120	0.011000	0.17503	0.002000	0.10522	0.003000	0.03518	0.738000	0.26158	0.879000	0.35944	0.462000	0.41574	GAA		0.567	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			5	126	0	0	0	1	0	5	126				
PXDN	7837	broad.mit.edu	37	2	1651988	1651988	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:1651988C>T	ENST00000252804.4	-	17	3614	c.3564G>A	c.(3562-3564)ctG>ctA	p.L1188L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1188					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCTCATTTTTCAGGTCCTCGA	0.562																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3562-3564)ctG>ctA		peroxidasin homolog (Drosophila)							117.0	125.0	122.0					2																	1651988		1949	4141	6090	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651988C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3564G>A	2.37:g.1651988C>T							p.L1188L	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3614	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1188					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3564G>A	CCDS46221.1																																																																																				0.562	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		7	143	0	0	0	1	0	7	143				
FBXL20	84961	broad.mit.edu	37	17	37499496	37499496	+	Splice_Site	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:37499496T>C	ENST00000264658.6	-	2	303		c.e2-2		FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20						behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TGAGAACATCTGCAAAAACAA	0.308																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.e2-2		F-box and leucine-rich repeat protein 20							80.0	80.0	80.0					17																	37499496		2203	4296	6499	SO:0001630	splice_region_variant	84961					cytoplasm		g.chr17:37499496T>C	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.43-2A>G	17.37:g.37499496T>C						FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site		NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		2	303	-								A8K729|Q38J52	Splice_Site	SNP	ENST00000264658.6	37		CCDS32640.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011080	0.75046	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9699	0.58508	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXL20	34753022	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.509000	0.67012	2.036000	0.60181	0.523000	0.50628	.		0.308	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	Intron	6	26	0	0	0	1	0	6	26				
BUB1	699	broad.mit.edu	37	2	111408321	111408321	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:111408321G>C	ENST00000302759.6	-	18	2123	c.2005C>G	c.(2005-2007)Cac>Gac	p.H669D	BUB1_ENST00000535254.1_Missense_Mutation_p.H649D|BUB1_ENST00000409311.1_Missense_Mutation_p.H669D	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	669					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GAATACATGTGAGACGACAAG	0.473																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1945-1947)Cac>Gac		BUB1 mitotic checkpoint serine/threonine kinase							83.0	77.0	79.0					2																	111408321		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111408321G>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2005C>G	2.37:g.111408321G>C	ENSP00000302530:p.His669Asp					BUB1_ENST00000302759.6_Missense_Mutation_p.H669D|BUB1_ENST00000409311.1_Missense_Mutation_p.H669D	p.H649D	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	17	2012	-		Ovarian(717;0.0822)	669					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1945C>G	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	1.811	-0.474676	0.04414	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.29917	2.3;1.55;2.56	4.5	-1.54	0.08584	.	2.104850	0.01728	N	0.028717	T	0.11067	0.0270	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17167	-1.0378	10	0.12430	T	0.62	2.362	4.6093	0.12395	0.0:0.2844:0.1843:0.5314	.	649;669;669	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	D	649;669;669;669	ENSP00000441013:H649D;ENSP00000386701:H669D;ENSP00000302530:H669D	ENSP00000302530:H669D	H	-	1	0	BUB1	111124793	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.137000	0.10389	-0.188000	0.10499	-0.153000	0.13522	CAC		0.473	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		5	38	0	0	0	1	0	5	38				
ZSCAN20	7579	broad.mit.edu	37	1	33960364	33960364	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960364C>G	ENST00000361328.3	+	8	2573	c.2420C>G	c.(2419-2421)tCa>tGa	p.S807*		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	807					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCAGAGCTCAAACCTTCTG	0.458																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2419-2421)tCa>tGa		zinc finger and SCAN domain containing 20							116.0	117.0	116.0					1																	33960364		1975	4194	6169	SO:0001587	stop_gained	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960364C>G	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2420C>G	1.37:g.33960364C>G	ENSP00000355053:p.Ser807*						p.S807*	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2573	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	807					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	ENST00000361328.3	37	c.2420C>G	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	39	7.334643	0.98217	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	4.99	0.66335	.	0.000000	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.595	9.244	0.37513	0.0:0.8372:0.0:0.1628	.	.	.	.	X	807;741;741	.	ENSP00000324450:S807X	S	+	2	0	ZSCAN20	33732951	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	1.093000	0.30939	1.493000	0.48517	0.561000	0.74099	TCA		0.458	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		13	140	0	0	0	1	0	13	140				
BTN2A1	11120	broad.mit.edu	37	6	26468373	26468373	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:26468373A>G	ENST00000312541.5	+	8	1428	c.1180A>G	c.(1180-1182)Aac>Gac	p.N394D	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.N333D|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GGAGGTGGAAAACGTGATTGA	0.547																																						ENST00000312541.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(1180-1182)Aac>Gac		butyrophilin, subfamily 2, member A1							187.0	170.0	176.0					6																	26468373		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26468373A>G	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1180A>G	6.37:g.26468373A>G	ENSP00000312158:p.Asn394Asp					BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Missense_Mutation_p.N333D|BTN2A1_ENST00000469185.1_Intron	p.N394D	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN			8	1428	+			394			B30.2/SPRY.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.1180A>G	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.266440	0.00259	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000265424	T;T	0.59364	0.27;0.27	2.67	0.185	0.15096	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.480070	0.19364	N	0.116068	T	0.09069	0.0224	N	0.03903	-0.33	0.09310	N	1	B;B	0.21225	0.007;0.053	B;B	0.31869	0.018;0.137	T	0.43228	-0.9404	10	0.02654	T	1	.	5.6212	0.17457	0.5794:0.0:0.4206:0.0	.	333;394	B4DLP9;Q7KYR7	.;BT2A1_HUMAN	D	394;333;380	ENSP00000312158:N394D;ENSP00000443909:N333D	ENSP00000265424:N380D	N	+	1	0	BTN2A1	26576352	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.281000	0.08456	0.036000	0.15547	0.402000	0.26972	AAC		0.547	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		6	97	0	0	0	1	0	6	97				
PXDN	7837	broad.mit.edu	37	2	1677575	1677575	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:1677575C>T	ENST00000252804.4	-	9	908	c.858G>A	c.(856-858)ctG>ctA	p.L286L	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	286	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCTTCATGCTCAGCTCATTAC	0.512																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(856-858)ctG>ctA		peroxidasin homolog (Drosophila)							100.0	102.0	101.0					2																	1677575		2050	4194	6244	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677575C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.858G>A	2.37:g.1677575C>T						PXDN_ENST00000483018.1_5'UTR	p.L286L	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	908	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	286			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.858G>A	CCDS46221.1																																																																																				0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		4	64	0	0	0	1	0	4	64				
FLG	2312	broad.mit.edu	37	1	152282185	152282185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:152282185G>T	ENST00000368799.1	-	3	5212	c.5177C>A	c.(5176-5178)tCa>tAa	p.S1726*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1726	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTCTTCTGAGTGTCCCTC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5176-5178)tCa>tAa		filaggrin							222.0	222.0	222.0					1																	152282185		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282185G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5177C>A	1.37:g.152282185G>T	ENSP00000357789:p.Ser1726*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1726*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5212	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1726			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.5177C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	42	9.184366	0.99092	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.81	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0566	0.36410	0.0:0.0:0.7819:0.2181	.	.	.	.	X	1726	.	ENSP00000357789:S1726X	S	-	2	0	FLG	150548809	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.817000	0.27281	1.834000	0.53371	0.461000	0.40582	TCA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		76	224	1	0	5.96624e-29	1	6.79274e-29	76	224				
CUL4A	8451	broad.mit.edu	37	13	113893751	113893751	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:113893751C>T	ENST00000375440.4	+	10	1005	c.921C>T	c.(919-921)ctC>ctT	p.L307L	CUL4A_ENST00000451881.1_Silent_p.L207L|CUL4A_ENST00000326335.4_Silent_p.L207L|CUL4A_ENST00000375441.3_Silent_p.L207L	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	307					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	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;0.112)			TCTCAGGGCTCGACCACTTAC	0.557																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(619-621)ctC>ctT		cullin 4A							88.0	77.0	81.0					13																	113893751		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113893751C>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.921C>T	13.37:g.113893751C>T						CUL4A_ENST00000375440.4_Silent_p.L307L|CUL4A_ENST00000326335.4_Silent_p.L207L|CUL4A_ENST00000375441.3_Silent_p.L207L	p.L207L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		10	870	+	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)	307					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.621C>T	CCDS41908.1																																																																																				0.557	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		5	63	0	0	0	1	0	5	63				
CCDC173	129881	broad.mit.edu	37	2	170505760	170505760	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:170505760C>T	ENST00000447353.1	-	8	1354	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	417								p.E411K(1)									TTCTCCTTTTCATGTTCCCAG	0.333																																						ENST00000447353.1																			1	Substitution - Missense(1)	p.E411K(1)	lung(1)								c.(1249-1251)Gaa>Aaa		coiled-coil domain containing 173							137.0	124.0	128.0					2																	170505760		1823	4094	5917	SO:0001583	missense	129881							g.chr2:170505760C>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1249G>A	2.37:g.170505760C>T	ENSP00000391504:p.Glu417Lys						p.E417K	NM_001085447.1	NP_001078916.1					8	1354	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1249G>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841956	0.71488	.	.	ENSG00000154479	ENST00000447353	T	0.14391	2.51	5.28	4.37	0.52481	.	.	.	.	.	T	0.28830	0.0715	M	0.64997	1.995	0.35286	D	0.781771	D	0.57257	0.979	P	0.58266	0.836	T	0.25745	-1.0123	9	0.46703	T	0.11	.	13.5225	0.61576	0.0:0.7088:0.2912:0.0	.	417	Q0VFZ6	CB077_HUMAN	K	417	ENSP00000391504:E417K	ENSP00000391504:E417K	E	-	1	0	C2orf77	170214006	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.234000	0.43035	2.473000	0.83533	0.467000	0.42956	GAA		0.333	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		10	41	0	0	0	1	0	10	41				
CLSTN2	64084	broad.mit.edu	37	3	140281940	140281940	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:140281940G>C	ENST00000458420.3	+	15	2567	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	793					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTCATGAAGACCAAGTCTC	0.522										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2377-2379)Gac>Cac		calsyntenin 2							149.0	130.0	136.0					3																	140281940		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281940G>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2377G>C	3.37:g.140281940G>C	ENSP00000402460:p.Asp793His	HNSCC(16;0.037)					p.D793H	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			15	2567	+			793					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2377G>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295687	0.23564	.	.	ENSG00000158258	ENST00000458420	T	0.38560	1.13	5.4	3.55	0.40652	.	0.757199	0.12000	N	0.508893	T	0.20577	0.0495	N	0.08118	0	0.09310	N	1	P	0.37525	0.598	B	0.34722	0.188	T	0.06303	-1.0834	9	.	.	.	-28.0901	7.6398	0.28288	0.0905:0.1646:0.745:0.0	.	793	Q9H4D0	CSTN2_HUMAN	H	793	ENSP00000402460:D793H	.	D	+	1	0	CLSTN2	141764630	0.436000	0.25586	0.882000	0.34594	0.633000	0.38033	0.350000	0.20079	1.225000	0.43566	0.655000	0.94253	GAC		0.522	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		13	108	0	0	0	1	0	13	108				
ATP13A4	84239	broad.mit.edu	37	3	193201786	193201786	+	Silent	SNP	T	T	A	rs149388699		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:193201786T>A	ENST00000342695.4	-	8	1069	c.747A>T	c.(745-747)gtA>gtT	p.V249V	ATP13A4_ENST00000392443.3_Silent_p.V249V|ATP13A4_ENST00000295548.3_Silent_p.V249V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	249						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTGGAGTTTTACAGATTGCT	0.353																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(745-747)gtA>gtT		ATPase type 13A4							137.0	139.0	138.0					3																	193201786		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193201786T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.747A>T	3.37:g.193201786T>A						ATP13A4_ENST00000295548.3_Silent_p.V249V|ATP13A4_ENST00000392443.3_Silent_p.V249V	p.V249V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	8	1069	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		249					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.747A>T	CCDS3304.2																																																																																				0.353	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		5	129	0	0	0	1	0	5	129				
ZNF23	7571	broad.mit.edu	37	16	71483713	71483713	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:71483713C>G	ENST00000393539.2	-	6	1028	c.215G>C	c.(214-216)aGa>aCa	p.R72T	ZNF23_ENST00000417828.1_Missense_Mutation_p.R72T|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.R14T|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R72T|ZNF23_ENST00000428724.2_Missense_Mutation_p.R14T	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	72					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)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GGAAAAGTCTCTTTGAAGTTC	0.348																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(214-216)aGa>aCa		zinc finger protein 23							80.0	83.0	82.0					16																	71483713		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483713C>G	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.215G>C	16.37:g.71483713C>G	ENSP00000377171:p.Arg72Thr					ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R72T|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.R72T|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000428724.2_Missense_Mutation_p.R14T|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.R14T	p.R72T	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1028	-		Ovarian(137;0.00768)	72					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.215G>C	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	7.637	0.680035	0.14907	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.16	-0.0625	0.13780	.	0.487586	0.17400	N	0.175566	T	0.25044	0.0608	M	0.63169	1.94	0.09310	N	1	B;B	0.23937	0.094;0.047	B;B	0.19391	0.023;0.025	T	0.19192	-1.0313	10	0.49607	T	0.09	-1.7707	4.5096	0.11905	0.1594:0.5869:0.0:0.2537	.	72;72	B3KR55;P17027	.;ZNF23_HUMAN	T	72;72;72;14;14	ENSP00000377171:R72T;ENSP00000349796:R72T;ENSP00000395712:R72T;ENSP00000387673:R14T	ENSP00000349796:R72T	R	-	2	0	ZNF23	70041214	0.000000	0.05858	0.003000	0.11579	0.329000	0.28539	-0.190000	0.09615	0.034000	0.15491	-0.181000	0.13052	AGA		0.348	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		10	73	0	0	0	1	0	10	73				
ZSCAN20	7579	broad.mit.edu	37	1	33960848	33960848	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960848C>T	ENST00000361328.3	+	8	3057	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	968					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAATTCTTCCGTGACCGTT	0.498																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2902-2904)ttC>ttT		zinc finger and SCAN domain containing 20							87.0	99.0	95.0					1																	33960848		2138	4266	6404	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960848C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2904C>T	1.37:g.33960848C>T							p.F968F	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	3057	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	968					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.2904C>T	CCDS41300.1																																																																																				0.498	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		4	39	0	0	0	1	0	4	39				
CYP1B1	1545	broad.mit.edu	37	2	38297968	38297968	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:38297968G>A	ENST00000260630.3	-	3	1930	c.1529C>T	c.(1528-1530)aCc>aTc	p.T510I	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.T510I	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	510					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GGGTTTAATGGTTAGACCATA	0.433																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1528-1530)aCc>aTc		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						87.0	89.0	88.0					2																	38297968		2203	4300	6503	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38297968G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1529C>T	2.37:g.38297968G>A	ENSP00000260630:p.Thr510Ile					CYP1B1_ENST00000407341.1_Missense_Mutation_p.T510I|CYP1B1_ENST00000494864.1_5'UTR	p.T510I	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1930	-		all_hematologic(82;0.21)	510					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1529C>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800281	0.50208	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.68181	-0.31;-0.31	5.84	2.99	0.34606	.	0.256528	0.44483	D	0.000442	T	0.81754	0.4889	M	0.79805	2.47	0.38370	D	0.944848	D	0.58268	0.982	D	0.71870	0.975	D	0.85323	0.1085	10	0.72032	D	0.01	.	16.1892	0.81975	0.0:0.5662:0.4338:0.0	.	510	Q53TK1	.	I	510	ENSP00000260630:T510I;ENSP00000384972:T510I	ENSP00000260630:T510I	T	-	2	0	CYP1B1	38151472	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	5.189000	0.65098	0.327000	0.23409	-0.211000	0.12701	ACC		0.433	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		13	79	0	0	0	1	0	13	79				
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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"""		108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(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						c.(580-582)cTt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578268		2203	4300	6503	SO:0001583	missense	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.chr17:7578268A>C	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	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_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron	p.L194R	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	713	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.581T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	17	0	0	0	1	0	20	17				
WDFY3	23001	broad.mit.edu	37	4	85742694	85742694	+	Silent	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:85742694C>G	ENST00000295888.4	-	11	1541	c.1134G>C	c.(1132-1134)gtG>gtC	p.V378V	WDFY3_ENST00000322366.6_Silent_p.V378V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	378					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGACGTTTCTCACACTGTGAC	0.338																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1132-1134)gtG>gtC		WD repeat and FYVE domain containing 3							79.0	80.0	80.0					4																	85742694		2202	4296	6498	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85742694C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1134G>C	4.37:g.85742694C>G						WDFY3_ENST00000295888.4_Silent_p.V378V	p.V378V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	11	1541	-		Hepatocellular(203;0.114)	378					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.1134G>C	CCDS3609.1																																																																																				0.338	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		5	71	0	0	0	1	0	5	71				
GPR126	57211	broad.mit.edu	37	6	142741141	142741141	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:142741141G>C	ENST00000230173.6	+	22	3695	c.3219G>C	c.(3217-3219)ttG>ttC	p.L1073F	GPR126_ENST00000367609.3_Missense_Mutation_p.L1073F|GPR126_ENST00000367608.2_Missense_Mutation_p.L1045F|GPR126_ENST00000296932.8_Missense_Mutation_p.L1045F	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1073					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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGGTTAGCTTGACCTTTCTGT	0.473																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3217-3219)ttG>ttC		G protein-coupled receptor 126							264.0	261.0	262.0					6																	142741141		1947	4141	6088	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142741141G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3219G>C	6.37:g.142741141G>C	ENSP00000230173:p.Leu1073Phe					GPR126_ENST00000367609.3_Missense_Mutation_p.L1073F|GPR126_ENST00000367608.2_Missense_Mutation_p.L1045F|GPR126_ENST00000296932.8_Missense_Mutation_p.L1045F	p.L1073F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	22	3695	+	Breast(32;0.176)		1073					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.3219G>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165139	0.38217	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.73	1.58	0.23477	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000092	T	0.71584	0.3357	M	0.88979	2.995	0.58432	D	0.999991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0	T	0.78455	-0.2197	10	0.87932	D	0	.	13.4057	0.60911	0.0646:0.4253:0.5101:0.0	.	133;1045;1073;1045;1073	B4DSK4;Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;.;GP126_HUMAN	F	1073;1045;1045;1073	ENSP00000230173:L1073F;ENSP00000356580:L1045F;ENSP00000296932:L1045F;ENSP00000356581:L1073F	ENSP00000230173:L1073F	L	+	3	2	GPR126	142782834	0.987000	0.35691	0.995000	0.50966	0.130000	0.20726	0.139000	0.16036	0.337000	0.23665	-0.172000	0.13284	TTG		0.473	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	126	0	0	0	1	0	8	126				
C5	727	broad.mit.edu	37	9	123725945	123725945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:123725945C>T	ENST00000223642.1	-	34	4321	c.4292G>A	c.(4291-4293)gGa>gAa	p.G1431E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1431					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGCACTGATTCCAGTAGGCAA	0.353																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4291-4293)gGa>gAa		complement component 5	Eculizumab(DB01257)						74.0	70.0	72.0					9																	123725945		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725945C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4292G>A	9.37:g.123725945C>T	ENSP00000223642:p.Gly1431Glu						p.G1431E	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	34	4321	-			1431					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4292G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041581	0.75732	.	.	ENSG00000106804	ENST00000223642	D	0.81996	-1.56	5.33	5.33	0.75918	Alpha-macroglobulin, receptor-binding (3);	0.106561	0.64402	D	0.000005	D	0.92590	0.7646	M	0.91717	3.235	0.48452	D	0.999656	D	0.89917	1.0	D	0.97110	1.0	D	0.93915	0.7200	10	0.87932	D	0	.	14.5227	0.67863	0.0:1.0:0.0:0.0	.	1431	P01031	CO5_HUMAN	E	1431	ENSP00000223642:G1431E	ENSP00000223642:G1431E	G	-	2	0	C5	122765766	1.000000	0.71417	0.709000	0.30452	0.920000	0.55202	4.650000	0.61440	2.496000	0.84212	0.655000	0.94253	GGA		0.353	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		11	38	0	0	0	1	0	11	38				
LRP2	4036	broad.mit.edu	37	2	170031721	170031721	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:170031721C>T	ENST00000263816.3	-	55	11035	c.10750G>A	c.(10750-10752)Gaa>Aaa	p.E3584K	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3584	LDL-receptor class A 27. {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)"""	AGACGGTCTTCATCAGACCCA	0.483																																						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.(10750-10752)Gaa>Aaa		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)						71.0	72.0	72.0					2																	170031721		2203	4300	6503	SO:0001583	missense	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.chr2:170031721C>T		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.10750G>A	2.37:g.170031721C>T	ENSP00000263816:p.Glu3584Lys						p.E3584K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	55	11035	-			3584			LDL-receptor class A 27.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10750G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466344	0.96257	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97924	-4.61	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98030	1.0376	10	0.87932	D	0	.	19.8706	0.96849	0.0:1.0:0.0:0.0	.	3584	P98164	LRP2_HUMAN	K	3584;279	ENSP00000263816:E3584K	ENSP00000263816:E3584K	E	-	1	0	LRP2	169739967	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.691000	0.91804	0.563000	0.77884	GAA		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	55	0	0	0	1	0	4	55				
OR1A2	26189	broad.mit.edu	37	17	3101498	3101498	+	Missense_Mutation	SNP	C	C	T	rs189449756	byFrequency	TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:3101498C>T	ENST00000381951.1	+	1	686	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	229					positive regulation of cytokinesis (GO:0032467)	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(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CAAGTTCCATCTACCAAGAGT	0.448																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(685-687)tCt>tTt		olfactory receptor, family 1, subfamily A, member 2							173.0	160.0	164.0					17																	3101498		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101498C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.686C>T	17.37:g.3101498C>T	ENSP00000371377:p.Ser229Phe						p.S229F	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	686	+			229					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.686C>T	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168460	0.21621	.	.	ENSG00000172150	ENST00000381951	T	0.00340	8.04	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000159	T	0.01189	0.0039	M	0.93808	3.46	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13124	-1.0521	10	0.87932	D	0	.	15.1791	0.72941	0.0:1.0:0.0:0.0	.	229	Q9Y585	OR1A2_HUMAN	F	229	ENSP00000371377:S229F	ENSP00000371377:S229F	S	+	2	0	OR1A2	3048248	0.000000	0.05858	0.635000	0.29338	0.018000	0.09664	0.648000	0.24828	2.234000	0.73211	0.543000	0.68304	TCT		0.448	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		9	151	0	0	0	1	0	9	151				
SQRDL	58472	broad.mit.edu	37	15	45974742	45974742	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:45974742G>C	ENST00000260324.7	+	7	1317	c.931G>C	c.(931-933)Gat>Cat	p.D311H	SQRDL_ENST00000568606.1_Missense_Mutation_p.D311H	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	311					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCCTGTGGCTGATGCTGCTGG	0.468																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(931-933)Gat>Cat		sulfide quinone reductase-like (yeast)							131.0	115.0	120.0					15																	45974742		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45974742G>C	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.931G>C	15.37:g.45974742G>C	ENSP00000260324:p.Asp311His					SQRDL_ENST00000568606.1_Missense_Mutation_p.D311H	p.D311H	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	1317	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	311					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.931G>C	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755302	0.89843	.	.	ENSG00000137767	ENST00000260324	T	0.57273	0.41	5.9	5.9	0.94986	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81357	-0.0969	10	0.72032	D	0.01	.	18.8407	0.92183	0.0:0.0:1.0:0.0	.	311	Q9Y6N5	SQRD_HUMAN	H	311	ENSP00000260324:D311H	ENSP00000260324:D311H	D	+	1	0	SQRDL	43762034	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	9.869000	0.99810	2.802000	0.96397	0.650000	0.86243	GAT		0.468	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			6	49	0	0	0	1	0	6	49				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			440423							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			5	59	0	0	0	1	0	5	59				
PAPSS2	9060	broad.mit.edu	37	10	89501080	89501080	+	Missense_Mutation	SNP	G	G	A	rs533052477		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:89501080G>A	ENST00000361175.4	+	9	1529	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R391H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R392H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	387					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GACCAATACCGTCTGACACCT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18656	0.0		0.0	False		,,,				2504	0.001					ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1159-1161)cGt>cAt		3'-phosphoadenosine 5'-phosphosulfate synthase 2							164.0	148.0	154.0					10																	89501080		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89501080G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1160G>A	10.37:g.89501080G>A	ENSP00000354436:p.Arg387His					PAPSS2_ENST00000427144.2_Missense_Mutation_p.R391H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R392H	p.R387H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	9	1529	+		Melanoma(5;0.019)|Colorectal(252;0.123)	387					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1160G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089868	0.94149	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.34667	1.35;1.35;1.35	5.15	5.15	0.70609	Sulphate adenylyltransferase (2);	0.046947	0.85682	D	0.000000	T	0.67458	0.2895	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71437	-0.4593	10	0.48119	T	0.1	-20.8707	18.8112	0.92058	0.0:0.0:1.0:0.0	.	387;392	O95340;O95340-2	PAPS2_HUMAN;.	H	387;392;391;391	ENSP00000354436:R387H;ENSP00000406157:R392H;ENSP00000397123:R391H	ENSP00000354436:R387H	R	+	2	0	PAPSS2	89491060	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.263000	0.95617	2.676000	0.91093	0.591000	0.81541	CGT		0.413	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			4	60	0	0	0	1	0	4	60				
PIK3CG	5294	broad.mit.edu	37	7	106509542	106509542	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:106509542C>G	ENST00000359195.3	+	2	1846	c.1536C>G	c.(1534-1536)aaC>aaG	p.N512K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.N512K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.N512K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	512	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACAAGGAGAACTCAATGTCCA	0.532																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1534-1536)aaC>aaG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							162.0	146.0	151.0					7																	106509542		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509542C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1536C>G	7.37:g.106509542C>G	ENSP00000352121:p.Asn512Lys					PIK3CG_ENST00000496166.1_Missense_Mutation_p.N512K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.N512K	p.N512K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1846	+			512					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1536C>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595366	0.28445	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69685	-0.42;-0.42;-0.42	6.02	3.91	0.45181	C2 calcium/lipid-binding domain, CaLB (1);	0.334159	0.38492	N	0.001672	T	0.60521	0.2275	M	0.61703	1.905	0.48135	D	0.999594	B	0.12013	0.005	B	0.23018	0.043	T	0.57665	-0.7772	10	0.33141	T	0.24	-36.4051	8.5008	0.33156	0.1285:0.7245:0.0:0.147	.	512	P48736	PK3CG_HUMAN	K	512	ENSP00000392258:N512K;ENSP00000419260:N512K;ENSP00000352121:N512K	ENSP00000352121:N512K	N	+	3	2	PIK3CG	106296778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.002000	0.40835	1.554000	0.49487	0.655000	0.94253	AAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			4	90	0	0	0	1	0	4	90				
CDH16	1014	broad.mit.edu	37	16	66945151	66945151	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:66945151C>T	ENST00000299752.4	-	14	2051	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	CDH16_ENST00000565796.1_Missense_Mutation_p.A620T|CDH16_ENST00000394055.3_Missense_Mutation_p.A620T|CDH16_ENST00000570262.1_Missense_Mutation_p.A540T|CDH16_ENST00000568632.1_Missense_Mutation_p.A523T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	620	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGACTGGGCGGTGTGCACC	0.627																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1858-1860)Gcc>Acc		cadherin 16, KSP-cadherin							40.0	39.0	40.0					16																	66945151		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945151C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1858G>A	16.37:g.66945151C>T	ENSP00000299752:p.Ala620Thr					CDH16_ENST00000394055.3_Missense_Mutation_p.A620T|CDH16_ENST00000568632.1_Missense_Mutation_p.A523T|CDH16_ENST00000565796.1_Missense_Mutation_p.A620T|CDH16_ENST00000570262.1_Missense_Mutation_p.A540T	p.A620T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	14	2051	-		Ovarian(137;0.0563)	620			Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1858G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502322	0.44455	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.69806	-0.43;0.2	4.96	4.01	0.46588	Cadherin (3);Cadherin-like (1);	0.154623	0.44483	D	0.000456	T	0.71676	0.3368	L	0.43701	1.375	0.22226	N	0.99928	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.977;0.996;0.883	T	0.60337	-0.7283	10	0.27785	T	0.31	-19.9152	9.4184	0.38536	0.0:0.9036:0.0:0.0964	.	620;620;620	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	T	620;620;584	ENSP00000377619:A620T;ENSP00000299752:A620T	ENSP00000299752:A620T	A	-	1	0	CDH16	65502652	0.907000	0.30839	0.847000	0.33407	0.266000	0.26442	1.999000	0.40806	1.335000	0.45486	-0.368000	0.07277	GCC		0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		3	25	0	0	0	1	0	3	25				
KCNQ5	56479	broad.mit.edu	37	6	73904786	73904786	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:73904786G>T	ENST00000370398.1	+	14	2557	c.2448G>T	c.(2446-2448)ttG>ttT	p.L816F	KCNQ5_ENST00000402622.2_Missense_Mutation_p.L826F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L817F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L706F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L835F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L807F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L816F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	816					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AAACTCTGTTGTCTGTCTGTC	0.478																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2503-2505)ttG>ttT		potassium voltage-gated channel, KQT-like subfamily, member 5							147.0	115.0	126.0					6																	73904786		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904786G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2448G>T	6.37:g.73904786G>T	ENSP00000359425:p.Leu816Phe					KCNQ5_ENST00000370398.1_Missense_Mutation_p.L816F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L817F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L826F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L816F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L706F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L807F	p.L835F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	2903	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	816					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2505G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672578	0.47781	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99660	-6.01;-6.02;-6.02;-6.01;-6.03;-6.06;-6.32	5.97	-1.02	0.10135	.	0.111853	0.38837	N	0.001558	D	0.98893	0.9625	L	0.56769	1.78	0.25033	N	0.991258	D;P;P;P;P	0.76494	0.999;0.919;0.893;0.919;0.868	D;B;B;B;B	0.80764	0.994;0.406;0.293;0.406;0.23	D	0.98302	1.0519	10	0.72032	D	0.01	.	8.7266	0.34474	0.3336:0.106:0.5604:0.0	.	706;826;835;807;816	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	F	835;835;816;816;826;817;807;706	ENSP00000345055:L835F;ENSP00000347326:L816F;ENSP00000359425:L816F;ENSP00000385501:L826F;ENSP00000347853:L817F;ENSP00000384453:L807F;ENSP00000409861:L706F	ENSP00000345055:L835F	L	+	3	2	KCNQ5	73961507	0.996000	0.38824	0.974000	0.42286	0.865000	0.49528	0.193000	0.17116	-0.278000	0.09180	0.650000	0.86243	TTG		0.478	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		5	72	1	0	0.184627	1	0.186042	5	72				
PPAPDC3	84814	broad.mit.edu	37	9	134165696	134165696	+	Silent	SNP	G	G	A	rs371251864		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:134165696G>A	ENST00000372264.3	+	1	616	c.312G>A	c.(310-312)gcG>gcA	p.A104A	PPAPDC3_ENST00000372261.1_Silent_p.A104A	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	104					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GCCGGGCGGCGTCCTGGGCCA	0.647																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(310-312)gcG>gcA		phosphatidic acid phosphatase type 2 domain containing 3		G		1,4405	2.1+/-5.4	0,1,2202	67.0	67.0	67.0		312	1.6	1.0	9		67	0,8598		0,0,4299	no	coding-synonymous	PPAPDC3	NM_032728.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		104/272	134165696	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165696G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.312G>A	9.37:g.134165696G>A						PPAPDC3_ENST00000372261.1_Silent_p.A104A	p.A104A	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	616	+	all_hematologic(7;0.0119)		104					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.312G>A	CCDS6942.1																																																																																				0.647	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		12	65	0	0	0	1	0	12	65				
LCLAT1	253558	broad.mit.edu	37	2	30863480	30863480	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:30863480G>C	ENST00000309052.4	+	7	1449	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q	LCLAT1_ENST00000379509.3_Missense_Mutation_p.E376Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E376Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	414					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AAAGAAAAATGAGTAAGATTA	0.353																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(1240-1242)Gag>Cag		lysocardiolipin acyltransferase 1							53.0	55.0	54.0					2																	30863480		2175	4294	6469	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30863480G>C	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1240G>C	2.37:g.30863480G>C	ENSP00000310551:p.Glu414Gln					LCLAT1_ENST00000379509.3_Missense_Mutation_p.E376Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E376Q|LCLAT1_ENST00000491680.2_3'UTR	p.E414Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			7	1449	+			414					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.1240G>C	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	4.165	0.029167	0.08054	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.34275	1.48;1.37;1.48	6.03	2.27	0.28462	.	0.490239	0.23402	N	0.048575	T	0.21145	0.0509	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.17837	-1.0356	10	0.66056	D	0.02	.	6.1748	0.20437	0.201:0.1403:0.6587:0.0	.	414	Q6UWP7	LCLT1_HUMAN	Q	376;414;376	ENSP00000368823:E376Q;ENSP00000310551:E414Q;ENSP00000442857:E376Q	ENSP00000310551:E414Q	E	+	1	0	LCLAT1	30716984	0.640000	0.27243	0.014000	0.15608	0.006000	0.05464	0.803000	0.27083	0.152000	0.19188	-1.113000	0.02065	GAG		0.353	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		4	53	0	0	0	1	0	4	53				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	37	0	0	0	1	0	4	37				
FAR2P3	100288897	broad.mit.edu	37	2	131459980	131459980	+	RNA	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:131459980G>A	ENST00000425151.1	+	0	507																											TTCTATCTGTGGCTCATTGGA	0.498																																						ENST00000425151.1																			0																																																			100288897							g.chr2:131459980G>A																													2.37:g.131459980G>A														0	507	+									RNA	SNP	ENST00000425151.1	37																																																																																						0.498	AC140481.7-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333662.1			3	2	0	0	0	1	0	3	2				
REV3L	5980	broad.mit.edu	37	6	111695502	111695502	+	Silent	SNP	C	C	T	rs188531900		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:111695502C>T	ENST00000358835.3	-	14	4510	c.4056G>A	c.(4054-4056)acG>acA	p.T1352T	REV3L_ENST00000435970.1_Silent_p.T1274T|REV3L_ENST00000368802.3_Silent_p.T1352T|REV3L_ENST00000368805.1_Silent_p.T1352T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1352					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)		TTTGAATTAACGTTGATTCCT	0.323								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0	5008	,	,		19571	0.001		0.0	False		,,,				2504	0.0					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.(3820-3822)acG>acA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							69.0	75.0	73.0					6																	111695502		2202	4296	6498	SO:0001819	synonymous_variant	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.chr6:111695502C>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.4056G>A	6.37:g.111695502C>T						REV3L_ENST00000368802.3_Silent_p.T1352T|REV3L_ENST00000368805.1_Silent_p.T1352T|REV3L_ENST00000358835.3_Silent_p.T1352T	p.T1274T			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	4638	-		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)	1352					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.3822G>A	CCDS5091.2																																																																																				0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		14	74	0	0	0	1	0	14	74				
FAM83C	128876	broad.mit.edu	37	20	33879620	33879620	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:33879620C>T	ENST00000374408.3	-	1	584	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	163										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)			GAAAAGGAAGCGCAGCAGGTC	0.612																																						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.(487-489)cGc>cAc		family with sequence similarity 83, member C							82.0	73.0	76.0					20																	33879620		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33879620C>T	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.488G>A	20.37:g.33879620C>T	ENSP00000363529:p.Arg163His						p.R163H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	584	-			163					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.488G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586295	0.86851	.	.	ENSG00000125998	ENST00000374408	T	0.35236	1.32	4.83	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.67677	-0.5609	10	0.66056	D	0.02	-11.6173	12.5106	0.56003	0.0:0.9175:0.0:0.0825	.	163	Q9BQN1	FA83C_HUMAN	H	163	ENSP00000363529:R163H	ENSP00000363529:R163H	R	-	2	0	FAM83C	33343034	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.846000	0.69444	1.408000	0.46895	0.561000	0.74099	CGC		0.612	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			16	93	0	0	0	1	0	16	93				
FAM111A	63901	broad.mit.edu	37	11	58920123	58920123	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:58920123G>C	ENST00000528737.1	+	5	3800	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	FAM111A_ENST00000361723.3_Missense_Mutation_p.E328Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E328Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	328					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AACATTATTTGAATTGCATAG	0.323																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(982-984)Gaa>Caa		family with sequence similarity 111, member A							45.0	51.0	49.0					11																	58920123		2197	4289	6486	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920123G>C	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.982G>C	11.37:g.58920123G>C	ENSP00000434435:p.Glu328Gln					FAM111A_ENST00000420244.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.E328Q	p.E328Q			Q96PZ2	F111A_HUMAN			5	3800	+		all_epithelial(135;0.139)	328					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.982G>C	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	8.685	0.906066	0.17760	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.65	-2.69	0.06022	Peptidase cysteine/serine, trypsin-like (1);	1.713960	0.02610	N	0.102066	T	0.29458	0.0734	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17961	-1.0352	10	0.35671	T	0.21	-23.7915	8.4124	0.32651	0.2873:0.2549:0.4578:0.0	.	328	Q96PZ2	F111A_HUMAN	Q	328	ENSP00000434435:E328Q;ENSP00000406683:E328Q;ENSP00000355264:E328Q;ENSP00000433154:E328Q;ENSP00000431631:E328Q	ENSP00000355264:E328Q	E	+	1	0	FAM111A	58676699	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.193000	0.03049	-1.068000	0.03156	-1.103000	0.02113	GAA		0.323	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		7	56	0	0	0	1	0	7	56				
IFNL3	282617	broad.mit.edu	37	19	39734514	39734514	+	Missense_Mutation	SNP	G	G	A	rs528511184		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:39734514G>A	ENST00000413851.2	-	4	480	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	148					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGCGGCCCCGGGTCCTGGGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14876	0.0		0.0	False		,,,				2504	0.001					ENST00000413851.2																			0											c.(442-444)Cgg>Tgg		interferon, lambda 3							21.0	28.0	25.0					19																	39734514		2193	4281	6474	SO:0001583	missense	282617							g.chr19:39734514G>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.442C>T	19.37:g.39734514G>A	ENSP00000409000:p.Arg148Trp						p.R148W	NM_172139.2	NP_742151.2					4	480	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.442C>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648067	0.29336	.	.	ENSG00000197110	ENST00000413851	T	0.33865	1.39	3.95	1.45	0.22620	.	1.913640	0.02255	N	0.066998	T	0.38453	0.1041	M	0.77103	2.36	0.09310	N	1	P	0.40211	0.707	B	0.26614	0.071	T	0.49652	-0.8917	10	0.87932	D	0	-0.2085	9.5045	0.39037	0.0:0.4239:0.5761:0.0	.	148	Q8IZI9	IL28B_HUMAN	W	148	ENSP00000409000:R148W	ENSP00000409000:R148W	R	-	1	2	IL28B	44426354	0.003000	0.15002	0.237000	0.24090	0.057000	0.15508	0.319000	0.19522	0.746000	0.32786	0.205000	0.17691	CGG		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		6	70	0	0	0	1	0	6	70				
LIN7B	64130	broad.mit.edu	37	19	49619650	49619650	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:49619650C>T	ENST00000221459.2	+	4	403	c.359C>T	c.(358-360)tCc>tTc	p.S120F	LIN7B_ENST00000391864.3_Intron|PPFIA3_ENST00000334186.4_5'Flank	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	120	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		ATCTACATCTCCCGGGTCATC	0.607																																						ENST00000221459.2																			0				central_nervous_system(1)|endometrium(1)|prostate(1)	3						c.(358-360)tCc>tTc		lin-7 homolog B (C. elegans)							78.0	65.0	70.0					19																	49619650		2203	4300	6503	SO:0001583	missense	64130				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding	g.chr19:49619650C>T	AF311862	CCDS12757.1	19q13.3	2008-07-17			ENSG00000104863	ENSG00000104863			17788	protein-coding gene	gene with protein product		612331				10341223	Standard	XR_243950		Approved	MALS-2, LIN-7B, VELI2	uc002pmp.3	Q9HAP6	OTTHUMG00000134288	ENST00000221459.2:c.359C>T	19.37:g.49619650C>T	ENSP00000221459:p.Ser120Phe					LIN7B_ENST00000391864.3_Intron	p.S120F	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)	4	403	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	120			PDZ.			Missense_Mutation	SNP	ENST00000221459.2	37	c.359C>T	CCDS12757.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444194	0.83993	.	.	ENSG00000104863	ENST00000221459	T	0.34472	1.36	3.92	3.92	0.45320	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.56848	0.2013	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62609	-0.6818	10	0.87932	D	0	-15.8269	15.2307	0.73386	0.0:1.0:0.0:0.0	.	120	Q9HAP6	LIN7B_HUMAN	F	120	ENSP00000221459:S120F	ENSP00000221459:S120F	S	+	2	0	LIN7B	54311462	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.542000	0.82095	2.184000	0.69523	0.561000	0.74099	TCC		0.607	LIN7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258980.1	NM_022165		22	26	0	0	0	1	0	22	26				
BMPR2	659	broad.mit.edu	37	2	203383547	203383547	+	Silent	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:203383547G>C	ENST00000374580.4	+	6	1163	c.624G>C	c.(622-624)ctG>ctC	p.L208L	BMPR2_ENST00000374574.2_Silent_p.L208L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACTTGCAGCTGATTGGCCGAG	0.353																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(622-624)ctG>ctC		bone morphogenetic protein receptor, type II (serine/threonine kinase)							72.0	67.0	69.0					2																	203383547		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203383547G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.624G>C	2.37:g.203383547G>C						BMPR2_ENST00000374574.2_Silent_p.L208L	p.L208L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			6	1163	+			208			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.624G>C	CCDS33361.1																																																																																				0.353	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		5	53	0	0	0	1	0	5	53				
APBB1	322	broad.mit.edu	37	11	6422225	6422225	+	Missense_Mutation	SNP	G	G	A	rs147235391		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:6422225G>A	ENST00000609360.1	-	12	1765	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	APBB1_ENST00000530885.1_Missense_Mutation_p.P334S|APBB1_ENST00000609331.1_Missense_Mutation_p.P321S|APBB1_ENST00000311051.3_Missense_Mutation_p.P554S|APBB1_ENST00000389906.2_Missense_Mutation_p.P556S|APBB1_ENST00000608655.1_Missense_Mutation_p.P336S|APBB1_ENST00000608704.1_Missense_Mutation_p.P297S|APBB1_ENST00000608394.1_Missense_Mutation_p.P297S|APBB1_ENST00000529519.1_Missense_Mutation_p.P81S|APBB1_ENST00000608645.1_Missense_Mutation_p.P297S|APBB1_ENST00000299402.6_Missense_Mutation_p.P554S	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	556	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)		ATACCAACAGGTTTAGCAACA	0.478																																					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.(1666-1668)Cct>Tct		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		G	SER/PRO,SER/PRO	0,4402		0,0,2201	278.0	278.0	278.0		1666,1660	4.9	1.0	11	dbSNP_134	278	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense	APBB1	NM_001164.2,NM_145689.1	74,74	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	556/711,554/709	6422225	2,12992	2201	4296	6497	SO:0001583	missense	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.chr11:6422225G>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.1666C>T	11.37:g.6422225G>A	ENSP00000477213:p.Pro556Ser					APBB1_ENST00000299402.6_Missense_Mutation_p.P554S|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.P554S|APBB1_ENST00000530885.1_Missense_Mutation_p.P334S	p.P556S	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	11	1765	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	556			PID 2.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1666C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.333636	0.81801	0.0	2.33E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.88	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.937;0.915;0.993	T	0.41233	-0.9520	10	0.54805	T	0.06	-9.2519	15.568	0.76309	0.0:0.0:1.0:0.0	.	556;334;554	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	S	554;554;556;405;297;321;334	ENSP00000299402:P554S;ENSP00000311912:P554S;ENSP00000374556:P556S;ENSP00000433338:P334S	ENSP00000299402:P554S	P	-	1	0	APBB1	6378801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.536000	0.85505	0.650000	0.86243	CCT		0.478	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		15	192	0	0	0	1	0	15	192				
TLR3	7098	broad.mit.edu	37	4	187004655	187004655	+	Silent	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:187004655C>G	ENST00000296795.3	+	4	1919	c.1815C>G	c.(1813-1815)gtC>gtG	p.V605V	TLR3_ENST00000504367.1_Silent_p.V328V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	605				V -> A (in Ref. 5; BAG36884). {ECO:0000305}.	activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAGCATCTGTCTTTAATAATC	0.393																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1813-1815)gtC>gtG		toll-like receptor 3							72.0	73.0	72.0					4																	187004655		2203	4299	6502	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004655C>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1815C>G	4.37:g.187004655C>G						TLR3_ENST00000504367.1_Silent_p.V328V	p.V605V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1919	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	605					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1815C>G	CCDS3846.1																																																																																				0.393	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			4	66	0	0	0	1	0	4	66				
OR2G6	391211	broad.mit.edu	37	1	248684949	248684949	+	Start_Codon_SNP	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:248684949T>C	ENST00000343414.4	+	1	34	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGGAAAAATGGAGGAAACC	0.398																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1-3)aTg>aCg		olfactory receptor, family 2, subfamily G, member 6							113.0	106.0	108.0					1																	248684949		2203	4300	6503	SO:0001582	initiator_codon_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248684949T>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.2T>C	1.37:g.248684949T>C	ENSP00000341291:p.Met1Thr						p.M1T	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	34	+	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)	all_cancers(173;0.0156)	1					B2RP33	Translation_Start_Site	SNP	ENST00000343414.4	37	c.2T>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	11.18	1.561325	0.27915	.	.	ENSG00000188558	ENST00000343414	T	0.01406	4.93	3.65	2.41	0.29592	.	2.114590	0.03468	U	0.213215	T	0.01523	0.0049	.	.	.	0.80722	D	1	P	0.44734	0.842	B	0.31442	0.13	T	0.56019	-0.8048	9	0.87932	D	0	.	8.3283	0.32171	0.1757:0.0:0.0:0.8242	.	1	Q5TZ20	OR2G6_HUMAN	T	1	ENSP00000341291:M1T	ENSP00000341291:M1T	M	+	2	0	OR2G6	246751572	0.025000	0.19082	0.965000	0.40720	0.686000	0.39977	1.293000	0.33353	1.522000	0.49001	0.329000	0.21502	ATG		0.398	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	Missense_Mutation	10	106	0	0	0	1	0	10	106				
TRPS1	7227	broad.mit.edu	37	8	116616662	116616662	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:116616662C>G	ENST00000220888.5	-	3	1654	c.1495G>C	c.(1495-1497)Gac>Cac	p.D499H	TRPS1_ENST00000519674.1_Missense_Mutation_p.D499H|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.D503H|TRPS1_ENST00000395715.3_Missense_Mutation_p.D512H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	499					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGCTCTTGTCTGTCTTGGTC	0.443									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1534-1536)Gac>Cac		trichorhinophalangeal syndrome I							124.0	121.0	122.0					8																	116616662		1876	4114	5990	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616662C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1495G>C	8.37:g.116616662C>G	ENSP00000220888:p.Asp499His					TRPS1_ENST00000520276.1_Missense_Mutation_p.D503H|TRPS1_ENST00000220888.5_Missense_Mutation_p.D499H|TRPS1_ENST00000519674.1_Missense_Mutation_p.D499H|TRPS1_ENST00000519076.1_Intron	p.D512H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2111	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		499					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1534G>C		.	.	.	.	.	.	.	.	.	.	C	9.453	1.091071	0.20471	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98717	-5.09;-5.06;-5.06;0.74	5.6	5.6	0.85130	.	1.013480	0.07895	N	0.971674	D	0.97123	0.9060	N	0.14661	0.345	0.35177	D	0.772077	B;B;B	0.24963	0.115;0.07;0.115	B;B;B	0.34779	0.189;0.092;0.189	D	0.90516	0.4485	10	0.59425	D	0.04	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	503;499;512	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	512;499;503;499	ENSP00000379065:D512H;ENSP00000220888:D499H;ENSP00000428680:D503H;ENSP00000429174:D499H	ENSP00000220888:D499H	D	-	1	0	TRPS1	116685837	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	4.275000	0.58927	2.793000	0.96121	0.591000	0.81541	GAC		0.443	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		7	108	0	0	0	1	0	7	108				
MLKL	197259	broad.mit.edu	37	16	74729256	74729256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:74729256C>T	ENST00000308807.7	-	2	863	c.400G>A	c.(400-402)Gca>Aca	p.A134T	MLKL_ENST00000306247.7_Missense_Mutation_p.A134T	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTTCCTGTGCCCAGGACGCT	0.542																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(400-402)Gca>Aca		mixed lineage kinase domain-like							172.0	135.0	148.0					16																	74729256		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74729256C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.400G>A	16.37:g.74729256C>T	ENSP00000308351:p.Ala134Thr					MLKL_ENST00000306247.7_Missense_Mutation_p.A134T	p.A134T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			2	863	-			134						Missense_Mutation	SNP	ENST00000308807.7	37	c.400G>A	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	5.949	0.359157	0.11239	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.78924	-1.22;2.76	4.15	-2.48	0.06423	.	3.113350	0.01108	N	0.005515	T	0.60379	0.2264	N	0.19112	0.55	0.09310	N	1	B;B	0.22146	0.065;0.057	B;B	0.20767	0.029;0.031	T	0.41698	-0.9494	10	0.18276	T	0.48	6.9679	4.3388	0.11099	0.0944:0.4282:0.3383:0.1391	.	134;134	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	T	134	ENSP00000308351:A134T;ENSP00000303118:A134T	ENSP00000303118:A134T	A	-	1	0	MLKL	73286757	0.001000	0.12720	0.020000	0.16555	0.013000	0.08279	-1.080000	0.03407	-0.507000	0.06549	-1.105000	0.02106	GCA		0.542	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		8	92	0	0	0	1	0	8	92				
OR2M2	391194	broad.mit.edu	37	1	248343476	248343476	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:248343476C>T	ENST00000359682.2	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTCCTCCTCAGCCAACTGT	0.532																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(187-189)ctC>ctT		olfactory receptor, family 2, subfamily M, member 2							318.0	301.0	307.0					1																	248343476		2203	4298	6501	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343476C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.189C>T	1.37:g.248343476C>T							p.L63L	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	189	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		63					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.189C>T	CCDS31106.1																																																																																				0.532	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		13	348	0	0	0	1	0	13	348				
UACA	55075	broad.mit.edu	37	15	70961172	70961172	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:70961172T>A	ENST00000322954.6	-	16	2036	c.1851A>T	c.(1849-1851)aaA>aaT	p.K617N	UACA_ENST00000379983.2_Missense_Mutation_p.K604N|UACA_ENST00000539319.1_Missense_Mutation_p.K508N|UACA_ENST00000560441.1_Missense_Mutation_p.K602N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	617					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTGACAATTCTTTTGCCTGGC	0.378																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1849-1851)aaA>aaT		uveal autoantigen with coiled-coil domains and ankyrin repeats							98.0	99.0	99.0					15																	70961172		2188	4294	6482	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70961172T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1851A>T	15.37:g.70961172T>A	ENSP00000314556:p.Lys617Asn					UACA_ENST00000560441.1_Missense_Mutation_p.K602N|UACA_ENST00000379983.2_Missense_Mutation_p.K604N|UACA_ENST00000539319.1_Missense_Mutation_p.K508N	p.K617N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2036	-			617					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1851A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442871	0.43326	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.38722	1.12;1.14;1.61	4.91	-3.65	0.04502	.	0.000000	0.64402	D	0.000015	T	0.57621	0.2066	M	0.69823	2.125	0.36938	D	0.892227	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.74348	0.983;0.962;0.947;0.976	T	0.60525	-0.7246	10	0.40728	T	0.16	-22.4338	15.9944	0.80230	0.0:0.6314:0.0:0.3686	.	508;617;617;604	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	617;604;508	ENSP00000314556:K617N;ENSP00000369319:K604N;ENSP00000438667:K508N	ENSP00000314556:K617N	K	-	3	2	UACA	68748226	0.988000	0.35896	0.003000	0.11579	0.393000	0.30537	0.127000	0.15790	-1.115000	0.02973	0.260000	0.18958	AAA		0.378	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			5	70	0	0	0	1	0	5	70				
OR6N1	128372	broad.mit.edu	37	1	158735613	158735613	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:158735613G>C	ENST00000335094.2	-	1	879	c.860C>G	c.(859-861)cCc>cGc	p.P287R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	287						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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTAGATGAAGGGGTTGAGGAA	0.522																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(859-861)cCc>cGc		olfactory receptor, family 6, subfamily N, member 1							168.0	162.0	164.0					1																	158735613		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735613G>C	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.860C>G	1.37:g.158735613G>C	ENSP00000335535:p.Pro287Arg						p.P287R	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	879	-	all_hematologic(112;0.0378)		287					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.860C>G	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379694	0.61845	.	.	ENSG00000197403	ENST00000335094	T	0.64085	-0.08	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	D	0.85600	0.5734	H	0.98111	4.15	0.45194	D	0.998201	D	0.89917	1.0	D	0.91635	0.999	D	0.90833	0.4718	10	0.87932	D	0	-25.1542	17.0563	0.86534	0.0:0.0:1.0:0.0	.	287	Q8NGY5	OR6N1_HUMAN	R	287	ENSP00000335535:P287R	ENSP00000335535:P287R	P	-	2	0	OR6N1	157002237	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.217000	0.72218	2.529000	0.85273	0.643000	0.83706	CCC		0.522	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		11	129	0	0	0	1	0	11	129				
SLC4A9	83697	broad.mit.edu	37	5	139743448	139743448	+	Silent	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:139743448T>C	ENST00000230993.6	+	9	1322	c.1287T>C	c.(1285-1287)acT>acC	p.T429T	SLC4A9_ENST00000432095.2_Silent_p.T394T|SLC4A9_ENST00000506545.1_Silent_p.T405T|SLC4A9_ENST00000507527.1_Silent_p.T429T|SLC4A9_ENST00000506757.2_Silent_p.T405T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	429	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCATCACTTTTGGGGGTC	0.602																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(1285-1287)acT>acC		solute carrier family 4, sodium bicarbonate cotransporter, member 9							50.0	50.0	50.0					5																	139743448		2028	4189	6217	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139743448T>C	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1287T>C	5.37:g.139743448T>C						SLC4A9_ENST00000507527.1_Silent_p.T429T|SLC4A9_ENST00000506757.2_Silent_p.T405T|SLC4A9_ENST00000506545.1_Silent_p.T405T|SLC4A9_ENST00000432095.2_Silent_p.T394T	p.T429T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1322	+			429			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.1287T>C	CCDS58973.1																																																																																				0.602	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		4	36	0	0	0	1	0	4	36				
ZCCHC6	79670	broad.mit.edu	37	9	88932144	88932144	+	Missense_Mutation	SNP	T	T	A	rs201052660		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:88932144T>A	ENST00000375963.3	-	17	3436	c.3264A>T	c.(3262-3264)agA>agT	p.R1088S	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R26S|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.R377S|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1088S|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R852S	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1088					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTGAATGTTTTCTGAGGACTC	0.353																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1129-1131)agA>agT		zinc finger, CCHC domain containing 6							84.0	89.0	87.0					9																	88932144		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88932144T>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3264A>T	9.37:g.88932144T>A	ENSP00000365130:p.Arg1088Ser					ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1088S|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R852S|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R26S|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1088S	p.R377S			Q5VYS8	TUT7_HUMAN			18	3555	-			1088					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1131A>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.215027	0.39102	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.73	3.56	0.40772	.	0.265091	0.42964	D	0.000630	T	0.55481	0.1923	M	0.65975	2.015	0.44155	D	0.996955	B;D;B	0.53619	0.082;0.961;0.003	B;P;B	0.55871	0.053;0.786;0.017	T	0.54057	-0.8350	10	0.45353	T	0.12	-30.0014	7.4103	0.27014	0.0:0.2219:0.0:0.7781	.	1088;852;1088	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	S	377;852;1088;26;1088	ENSP00000277141:R377S;ENSP00000365127:R852S;ENSP00000365128:R1088S;ENSP00000365124:R26S;ENSP00000365130:R1088S	ENSP00000277141:R377S	R	-	3	2	ZCCHC6	88121964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.926000	0.28804	0.919000	0.36945	0.533000	0.62120	AGA		0.353	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		8	62	0	0	0	1	0	8	62				
ADPRH	141	broad.mit.edu	37	3	119305355	119305355	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:119305355G>A	ENST00000478399.1	+	3	1927	c.522G>A	c.(520-522)gcG>gcA	p.A174A	ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000478927.1_Silent_p.A174A			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	174					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGGCCCTTGCGTCTGCTCTTT	0.537																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(520-522)gcG>gcA		ADP-ribosylarginine hydrolase							124.0	127.0	126.0					3																	119305355		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305355G>A	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.522G>A	3.37:g.119305355G>A						ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000478927.1_Silent_p.A174A	p.A174A			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	1927	+		Lung NSC(201;0.0977)	174					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.522G>A	CCDS2990.1																																																																																				0.537	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		9	218	0	0	0	1	0	9	218				
ZSCAN20	7579	broad.mit.edu	37	1	33960221	33960221	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960221C>G	ENST00000361328.3	+	8	2430	c.2277C>G	c.(2275-2277)atC>atG	p.I759M		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	759					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATCAGAGAATCCACACTGGAG	0.453																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2275-2277)atC>atG		zinc finger and SCAN domain containing 20							82.0	92.0	89.0					1																	33960221		2143	4272	6415	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960221C>G	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2277C>G	1.37:g.33960221C>G	ENSP00000355053:p.Ile759Met						p.I759M	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2430	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	759					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2277C>G	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179792	0.38511	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.78	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.213135	0.32785	N	0.005656	T	0.54191	0.1843	M	0.64567	1.98	0.33273	D	0.561319	P;P	0.49090	0.919;0.587	P;B	0.49012	0.598;0.411	T	0.66148	-0.5996	9	0.66056	D	0.02	-5.9255	9.2914	0.37789	0.0:0.6942:0.0:0.3058	.	758;759	P17040-3;P17040	.;ZSC20_HUMAN	M	759;693;693	.	ENSP00000324450:I759M	I	+	3	3	ZSCAN20	33732808	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	-0.123000	0.10611	0.365000	0.24400	0.561000	0.74099	ATC		0.453	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		9	94	0	0	0	1	0	9	94				
CCNT2	905	broad.mit.edu	37	2	135694482	135694482	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:135694482C>G	ENST00000264157.5	+	3	342	c.312C>G	c.(310-312)atC>atG	p.I104M	CCNT2_ENST00000295238.6_Missense_Mutation_p.I104M|CCNT2_ENST00000537343.1_5'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	104					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AACATGTTATCAAAGTAGCAC	0.343																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(310-312)atC>atG		cyclin T2							125.0	126.0	126.0					2																	135694482		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135694482C>G	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.312C>G	2.37:g.135694482C>G	ENSP00000264157:p.Ile104Met					CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.I104M	p.I104M	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	3	342	+			104					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.312C>G	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316463	0.60524	.	.	ENSG00000082258	ENST00000295238;ENST00000264157	T;T	0.50277	0.75;0.75	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.89601	3.045	0.80722	D	1	P;D	0.64830	0.924;0.994	D;D	0.76575	0.963;0.988	T	0.75468	-0.3307	10	0.87932	D	0	.	8.3478	0.32284	0.1561:0.76:0.0:0.0839	.	104;104	O60583;O60583-2	CCNT2_HUMAN;.	M	104	ENSP00000295238:I104M;ENSP00000264157:I104M	ENSP00000264157:I104M	I	+	3	3	CCNT2	135410952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.280000	0.33202	2.678000	0.91216	0.655000	0.94253	ATC		0.343	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		6	55	0	0	0	1	0	6	55				
LILRB2	10288	broad.mit.edu	37	19	54783471	54783471	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:54783471C>A	ENST00000391749.4	-	5	658	c.387G>T	c.(385-387)caG>caT	p.Q129H	LILRB2_ENST00000434421.1_Missense_Mutation_p.Q13H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.Q129H|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q129H|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391748.1_Missense_Mutation_p.Q129H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	129	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGCTGGGCTGGGCTGAGA	0.587																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(385-387)caG>caT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							82.0	85.0	84.0					19																	54783471		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783471C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.387G>T	19.37:g.54783471C>A	ENSP00000375629:p.Gln129His					LILRB2_ENST00000391749.4_Missense_Mutation_p.Q129H|LILRB2_ENST00000391746.1_Missense_Mutation_p.Q129H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q13H|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q129H	p.Q129H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	514	-	Ovarian(34;0.19)		129			Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.387G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	9.733	1.162680	0.21538	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04	2.41	0.0406	0.14210	Immunoglobulin-like fold (1);	1.172270	0.06536	N	0.742321	T	0.04272	0.0118	L	0.33245	0.995	0.09310	N	0.999998	P;B;P	0.46064	0.872;0.0;0.795	P;B;P	0.45998	0.5;0.005;0.5	T	0.37865	-0.9687	10	0.51188	T	0.08	.	2.3735	0.04336	0.3019:0.5164:0.0:0.1816	.	129;146;129	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	129;129;129;129;13	ENSP00000375628:Q129H;ENSP00000319960:Q129H;ENSP00000375629:Q129H;ENSP00000375626:Q129H;ENSP00000410117:Q13H	ENSP00000319960:Q129H	Q	-	3	2	LILRB2	59475283	0.007000	0.16637	0.505000	0.27651	0.123000	0.20343	-0.582000	0.05814	0.304000	0.22809	0.289000	0.19496	CAG		0.587	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			25	91	1	0	4.59853e-10	1	5.12463e-10	25	91				
PPP2R2C	5522	broad.mit.edu	37	4	6335418	6335418	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:6335418G>C	ENST00000382599.4	-	7	1047	c.831C>G	c.(829-831)ttC>ttG	p.F277L	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.F277L|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.F270L|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.F260L|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.F270L			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	277					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGATTTCCGAGAAGAATGAGC	0.582											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(829-831)ttC>ttG		protein phosphatase 2, regulatory subunit B, gamma							115.0	116.0	116.0					4																	6335418		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6335418G>C	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.831C>G	4.37:g.6335418G>C	ENSP00000372042:p.Phe277Leu		OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.F277L|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.F260L|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.F270L|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.F270L	p.F277L	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			7	854	-			277					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.831C>G		.	.	.	.	.	.	.	.	.	.	G	15.90	2.970809	0.53614	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	4.2	2.38	0.29361	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.76574	2.34	0.80722	D	1	B;P;B;B;B	0.43938	0.015;0.822;0.015;0.006;0.09	B;B;B;B;B	0.40329	0.018;0.326;0.029;0.018;0.074	T	0.06917	-1.0800	10	0.72032	D	0.01	.	6.2977	0.21095	0.3971:0.0:0.6029:0.0	.	270;373;277;260;277	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	L	277;270;260;277;270	ENSP00000335083:F277L;ENSP00000423649:F270L;ENSP00000422374:F260L;ENSP00000372042:F277L;ENSP00000425247:F270L	ENSP00000335083:F277L	F	-	3	2	PPP2R2C	6386319	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.553000	0.45837	0.960000	0.38005	0.491000	0.48974	TTC		0.582	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		6	57	0	0	0	1	0	6	57				
LRRTM4	80059	broad.mit.edu	37	2	77746430	77746430	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:77746430C>T	ENST00000409093.1	-	3	901	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	LRRTM4_ENST00000409088.3_Missense_Mutation_p.G189S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G189S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	189					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGATTGTAACCCAAATCCAAA	0.423																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(565-567)Ggt>Agt		leucine rich repeat transmembrane neuronal 4							63.0	61.0	62.0					2																	77746430		1852	4071	5923	SO:0001583	missense	80059					integral to membrane		g.chr2:77746430C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.565G>A	2.37:g.77746430C>T	ENSP00000386357:p.Gly189Ser					LRRTM4_ENST00000409282.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G189S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G189S	p.G189S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	979	-			189					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.565G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429177	0.62844	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	N	0.04686	-0.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.43228	-0.9404	10	0.10902	T	0.67	.	18.68	0.91544	0.0:1.0:0.0:0.0	.	190;189;189	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	190;189;189;189;190	ENSP00000387228:G190S;ENSP00000387297:G189S;ENSP00000386357:G189S;ENSP00000386236:G189S;ENSP00000386286:G190S	ENSP00000386236:G189S	G	-	1	0	LRRTM4	77599938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.757000	0.94681	0.563000	0.77884	GGT		0.423	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		25	33	0	0	0	1	0	25	33				
WISP1	8840	broad.mit.edu	37	8	134239811	134239811	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:134239811C>T	ENST00000250160.6	+	5	1068	c.962C>T	c.(961-963)tCc>tTc	p.S321F	WISP1_ENST00000377863.2_Missense_Mutation_p.S149F|WISP1_ENST00000519433.1_Missense_Mutation_p.S76F|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000220856.6_Missense_Mutation_p.S234F|WISP1_ENST00000517423.1_3'UTR	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	321	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATCGACGTGTCCTTCCAGTGT	0.517																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(961-963)tCc>tTc		WNT1 inducible signaling pathway protein 1							226.0	172.0	191.0					8																	134239811		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239811C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.962C>T	8.37:g.134239811C>T	ENSP00000250160:p.Ser321Phe					WISP1_ENST00000519433.1_Missense_Mutation_p.S76F|WISP1_ENST00000220856.6_Missense_Mutation_p.S234F|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Missense_Mutation_p.S149F	p.S321F	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		5	1068	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		321			CTCK.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.962C>T	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549747	0.27652	.	.	ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.63	1.54	0.23209	Cystine knot (1);Cystine knot, C-terminal (3);	0.878469	0.10419	N	0.676938	T	0.14830	0.0358	N	0.14661	0.345	0.09310	N	1	P;P;D;P	0.64830	0.943;0.908;0.994;0.946	P;P;P;P	0.55965	0.451;0.587;0.788;0.697	T	0.16335	-1.0406	10	0.87932	D	0	-11.2958	1.4367	0.02345	0.3776:0.3233:0.1349:0.1642	.	76;149;234;321	O95388-3;Q5JBS7;O95388-2;O95388	.;.;.;WISP1_HUMAN	F	321;76;149;234	ENSP00000250160:S321F;ENSP00000429185:S76F;ENSP00000367094:S149F;ENSP00000220856:S234F	ENSP00000220856:S234F	S	+	2	0	WISP1	134308993	0.346000	0.24844	0.135000	0.22099	0.002000	0.02628	0.674000	0.25218	0.804000	0.34136	-0.140000	0.14226	TCC		0.517	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		5	79	0	0	0	1	0	5	79				
RHOBTB1	9886	broad.mit.edu	37	10	62652608	62652608	+	Missense_Mutation	SNP	C	C	A	rs141139124		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:62652608C>A	ENST00000337910.5	-	5	779	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				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)	p.D148Y(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCTTCCAGGTCGGCATAGCGG	0.502																																						ENST00000337910.5																			1	Substitution - Missense(1)	p.D148Y(1)	lung(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(442-444)Gac>Tac		Rho-related BTB domain containing 1							105.0	100.0	102.0					10																	62652608		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62652608C>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.442G>T	10.37:g.62652608C>A	ENSP00000338671:p.Asp148Tyr					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148Y	p.D148Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			5	779	-	Prostate(12;0.0112)		148			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.442G>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005554	0.74932	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.25414	1.8;1.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03086	-1.1074	10	0.29301	T	0.29	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	148	O94844	RHBT1_HUMAN	Y	148	ENSP00000350595:D148Y;ENSP00000338671:D148Y	ENSP00000338671:D148Y	D	-	1	0	RHOBTB1	62322614	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.941000	0.99782	0.655000	0.94253	GAC		0.502	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			4	52	1	0	0.150653	1	0.15298	4	52				
OR14C36	127066	broad.mit.edu	37	1	248512914	248512914	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:248512914C>T	ENST00000317861.1	+	1	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	280						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(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCCATAATGCCTCCCCTCTT	0.403																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(838-840)Cct>Tct		olfactory receptor, family 14, subfamily C, member 36							90.0	92.0	91.0					1																	248512914		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512914C>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.838C>T	1.37:g.248512914C>T	ENSP00000324534:p.Pro280Ser						p.P280S	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	838	+			280					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.838C>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275129	0.40194	.	.	ENSG00000177174	ENST00000317861	T	0.35048	1.33	3.81	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	U	0.001013	T	0.47469	0.1447	L	0.43152	1.355	0.19300	N	0.99998	D	0.76494	0.999	D	0.77004	0.989	T	0.16305	-1.0407	10	0.48119	T	0.1	.	10.896	0.47023	0.4178:0.5822:0.0:0.0	.	280	Q8NHC7	O14CZ_HUMAN	S	280	ENSP00000324534:P280S	ENSP00000324534:P280S	P	+	1	0	OR14C36	246579537	0.000000	0.05858	0.196000	0.23383	0.010000	0.07245	-0.149000	0.10204	1.978000	0.57642	0.395000	0.25975	CCT		0.403	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		23	86	0	0	0	1	0	23	86				
SLC6A14	11254	broad.mit.edu	37	X	115582732	115582732	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:115582732G>C	ENST00000371900.4	+	8	1144	c.1056G>C	c.(1054-1056)ttG>ttC	p.L352F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	352					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGGTTTGTTTGACAAACTGTC	0.383																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1054-1056)ttG>ttC		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						183.0	161.0	169.0					X																	115582732		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582732G>C	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1056G>C	X.37:g.115582732G>C	ENSP00000360967:p.Leu352Phe						p.L352F	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			8	1144	+			352					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1056G>C	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663839	0.29515	.	.	ENSG00000087916	ENST00000371900	T	0.74315	-0.83	5.44	4.58	0.56647	.	0.427956	0.23908	N	0.043363	T	0.55081	0.1898	N	0.21583	0.68	0.35678	D	0.813884	B	0.23990	0.095	B	0.22601	0.04	T	0.53330	-0.8454	10	0.15952	T	0.53	.	6.2127	0.20638	0.097:0.0:0.7195:0.1835	.	352	Q9UN76	S6A14_HUMAN	F	352	ENSP00000360967:L352F	ENSP00000360967:L352F	L	+	3	2	SLC6A14	115496760	0.977000	0.34250	0.998000	0.56505	0.989000	0.77384	0.061000	0.14366	1.052000	0.40392	0.544000	0.68410	TTG		0.383	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			6	53	0	0	0	1	0	6	53				
CLEC17A	388512	broad.mit.edu	37	19	14710995	14710995	+	Splice_Site	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:14710995G>T	ENST00000417570.1	+	12	932		c.e12+1		CLEC17A_ENST00000397439.2_Splice_Site|CLEC17A_ENST00000547437.1_Splice_Site	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A							cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										TGCTGAGCACGTGAGTTCTTC	0.498																																						ENST00000547437.1																			0											c.e12+1		C-type lectin domain family 17, member A							64.0	61.0	62.0					19																	14710995		1976	4180	6156	SO:0001630	splice_region_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710995G>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.894+1G>T	19.37:g.14710995G>T						CLEC17A_ENST00000417570.1_Splice_Site|CLEC17A_ENST00000397439.2_Splice_Site		NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			12	971	+								A8MX68|B2RTX0|B7ZMM4	Splice_Site	SNP	ENST00000417570.1	37		CCDS56087.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291423	0.23564	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3663	0.66807	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLEC17A	14571995	1.000000	0.71417	0.996000	0.52242	0.112000	0.19704	4.406000	0.59748	1.960000	0.56953	0.561000	0.74099	.		0.498	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390	Intron	7	25	1	0	8.12818e-05	1	8.58519e-05	7	25				
ZNF682	91120	broad.mit.edu	37	19	20117026	20117026	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:20117026C>T	ENST00000397165.2	-	4	1445	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.E397K|ZNF682_ENST00000597972.1_Missense_Mutation_p.E435K|ZNF682_ENST00000595736.1_Missense_Mutation_p.E353K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E397K	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	429					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)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCCACATTCTTCACAGTTG	0.388																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1285-1287)Gaa>Aaa		zinc finger protein 682							79.0	87.0	85.0					19																	20117026		2181	4292	6473	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117026C>T	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1285G>A	19.37:g.20117026C>T	ENSP00000380351:p.Glu429Lys					ZNF682_ENST00000595736.1_Missense_Mutation_p.E353K|ZNF682_ENST00000597972.1_Missense_Mutation_p.E435K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E397K|ZNF682_ENST00000358523.5_Missense_Mutation_p.E397K|ZNF682_ENST00000596019.1_Intron	p.E429K	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1445	-			429					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.1285G>A	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927979	0.34002	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	T;T;T	0.38077	1.16;1.16;1.16	1.09	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28830	0.0715	L	0.41079	1.255	0.09310	N	1	P	0.42357	0.777	B	0.42851	0.4	T	0.17899	-1.0354	9	0.62326	D	0.03	.	6.4548	0.21924	0.0:0.6921:0.3079:0.0	.	429	O95780	ZN682_HUMAN	K	429;397;98;397	ENSP00000380351:E429K;ENSP00000380348:E397K;ENSP00000351324:E397K	ENSP00000340236:E98K	E	-	1	0	ZNF682	19978026	0.000000	0.05858	0.032000	0.17829	0.030000	0.12068	0.170000	0.16663	-0.479000	0.06813	-0.479000	0.04858	GAA		0.388	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		3	46	0	0	0	1	0	3	46				
FOXL1	2300	broad.mit.edu	37	16	86613242	86613242	+	Missense_Mutation	SNP	C	C	T	rs369054293		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:86613242C>T	ENST00000320241.3	+	1	1128	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	305					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCCAGCCTCCGTCCGCCTTT	0.672																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(913-915)Cgt>Tgt		forkhead box L1		C	CYS/ARG	0,4396		0,0,2198	23.0	27.0	25.0		913	-0.1	0.3	16		25	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXL1	NM_005250.2	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	305/346	86613242	1,12995	2198	4300	6498	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding	g.chr16:86613242C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.913C>T	16.37:g.86613242C>T	ENSP00000326272:p.Arg305Cys						p.R305C	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	1128	+			305					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.913C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747758	0.49257	0.0	1.16E-4	ENSG00000176678	ENST00000320241	D	0.94000	-3.33	4.92	-0.0745	0.13731	.	0.852891	0.09887	U	0.742911	T	0.79684	0.4488	N	0.02539	-0.55	0.18873	N	0.999989	B	0.12630	0.006	B	0.06405	0.002	T	0.69187	-0.5211	10	0.44086	T	0.13	.	4.2045	0.10481	0.0:0.2398:0.3429:0.4173	.	305	Q12952	FOXL1_HUMAN	C	305	ENSP00000326272:R305C	ENSP00000326272:R305C	R	+	1	0	FOXL1	85170743	0.000000	0.05858	0.337000	0.25536	0.892000	0.51952	-0.606000	0.05654	0.110000	0.17919	0.555000	0.69702	CGT		0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		3	18	0	0	0	1	0	3	18				
UBR4	23352	broad.mit.edu	37	1	19511697	19511697	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:19511697G>A	ENST00000375254.3	-	15	1861	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	UBR4_ENST00000375217.2_Missense_Mutation_p.P612S|UBR4_ENST00000375226.2_Missense_Mutation_p.P612S|UBR4_ENST00000375267.2_Missense_Mutation_p.P612S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	612	Pro-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAGGTGGGGGAGGAGGCGGA	0.522																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(1834-1836)Ccc>Tcc		ubiquitin protein ligase E3 component n-recognin 4							123.0	139.0	133.0					1																	19511697		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19511697G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1834C>T	1.37:g.19511697G>A	ENSP00000364403:p.Pro612Ser					UBR4_ENST00000375254.3_Missense_Mutation_p.P612S|UBR4_ENST00000375217.2_Missense_Mutation_p.P612S|UBR4_ENST00000375226.2_Missense_Mutation_p.P612S	p.P612S			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	15	1837	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	612			Pro-rich.		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.1834C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542676	0.45280	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23552	1.92;1.92;1.91;1.9	5.46	5.46	0.80206	.	0.058803	0.64402	D	0.000001	T	0.36744	0.0978	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.04078	-1.0979	10	0.24483	T	0.36	.	18.2357	0.89948	0.0:0.0:1.0:0.0	.	612	Q5T4S7	UBR4_HUMAN	S	612	ENSP00000364403:P612S;ENSP00000364416:P612S;ENSP00000364365:P612S;ENSP00000364374:P612S	ENSP00000364365:P612S	P	-	1	0	UBR4	19384284	1.000000	0.71417	0.818000	0.32626	0.913000	0.54294	8.665000	0.91144	2.719000	0.93026	0.655000	0.94253	CCC		0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		7	161	0	0	0	1	0	7	161				
WNK1	65125	broad.mit.edu	37	12	936259	936259	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:936259C>G	ENST00000315939.6	+	3	1627	c.984C>G	c.(982-984)tgC>tgG	p.C328W	WNK1_ENST00000530271.2_Missense_Mutation_p.C328W|WNK1_ENST00000535572.1_Missense_Mutation_p.C328W|WNK1_ENST00000447667.2_Missense_Mutation_p.C328W|WNK1_ENST00000537687.1_Missense_Mutation_p.C328W	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.C328W(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGCTGGTGCCGTCAGATCC	0.388																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			1	Substitution - Missense(1)	p.C328W(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(982-984)tgC>tgG		WNK lysine deficient protein kinase 1							137.0	131.0	133.0					12																	936259		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:936259C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.984C>G	12.37:g.936259C>G	ENSP00000313059:p.Cys328Trp					WNK1_ENST00000535572.1_Missense_Mutation_p.C328W|WNK1_ENST00000530271.2_Missense_Mutation_p.C328W|WNK1_ENST00000447667.2_Missense_Mutation_p.C328W|WNK1_ENST00000315939.6_Missense_Mutation_p.C328W	p.C328W	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		3	1627	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		328			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.984C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299408	0.60195	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.54	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.73999	0.3659	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.995	T	0.75007	-0.3469	10	0.87932	D	0	-7.7639	9.5683	0.39411	0.0:0.7381:0.0:0.2619	.	328;328;328	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	W	328	ENSP00000441972:C328W;ENSP00000313059:C328W;ENSP00000444465:C328W;ENSP00000392542:C328W;ENSP00000433548:C328W	ENSP00000313059:C328W	C	+	3	2	WNK1	806520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.322000	0.33689	1.008000	0.39264	0.591000	0.81541	TGC		0.388	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		8	89	0	0	0	1	0	8	89				
TAF1L	138474	broad.mit.edu	37	9	32631254	32631254	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:32631254G>A	ENST00000242310.4	-	1	4413	c.4324C>T	c.(4324-4326)Cgg>Tgg	p.R1442W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1442	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCATTGGCCGAGTGATGATT	0.438																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4324-4326)Cgg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							291.0	242.0	259.0					9																	32631254		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631254G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4324C>T	9.37:g.32631254G>A	ENSP00000418379:p.Arg1442Trp						p.R1442W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4413	-			1442			Bromo 1.		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4324C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881801	0.72294	.	.	ENSG00000122728	ENST00000242310	T	0.35421	1.31	1.16	1.16	0.20824	Bromodomain (5);Bromodomain, conserved site (1);	0.138572	0.49305	D	0.000153	T	0.57548	0.2061	M	0.92459	3.31	0.47037	D	0.999299	D	0.69078	0.997	P	0.61397	0.888	T	0.58329	-0.7655	10	0.87932	D	0	.	4.8177	0.13374	0.0:0.0:0.6427:0.3573	.	1442	Q8IZX4	TAF1L_HUMAN	W	1442	ENSP00000418379:R1442W	ENSP00000418379:R1442W	R	-	1	2	TAF1L	32621254	1.000000	0.71417	0.982000	0.44146	0.898000	0.52572	3.419000	0.52728	0.507000	0.28148	0.195000	0.17529	CGG		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			19	131	0	0	0	1	0	19	131				
C16orf82	162083	broad.mit.edu	37	16	27078280	27078280	+	lincRNA	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:27078280C>G	ENST00000505035.1	+	0	253				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		AGAGAGGTCACAGCCAACATT	0.552																																						ENST00000505035.1																			0																				65.0	69.0	67.0					16																	27078280		1873	4112	5985			162083							g.chr16:27078280C>G	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078280C>G						RP11-673P17.2_ENST00000565783.1_RNA				Q7Z2V1	TNT_HUMAN			0	253	+								B9EGC2|Q8NEF0	RNA	SNP	ENST00000505035.1	37																																																																																						0.552	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545		5	62	0	0	0	1	0	5	62				
ZBTB11	27107	broad.mit.edu	37	3	101370231	101370231	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:101370231G>C	ENST00000312938.4	-	11	3521	c.2941C>G	c.(2941-2943)Caa>Gaa	p.Q981E		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	981					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)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAAGTTCTTGAGGACCACTG	0.458																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2941-2943)Caa>Gaa		zinc finger and BTB domain containing 11							198.0	166.0	177.0					3																	101370231		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370231G>C	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2941C>G	3.37:g.101370231G>C	ENSP00000326200:p.Gln981Glu						p.Q981E	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3521	-			981					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2941C>G	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	3.402	-0.121970	0.06795	.	.	ENSG00000066422	ENST00000312938	T	0.10192	2.9	5.19	4.26	0.50523	.	0.059195	0.64402	D	0.000005	T	0.04634	0.0126	N	0.02539	-0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44757	-0.9307	10	0.26408	T	0.33	-16.5149	13.1155	0.59297	0.0:0.3448:0.6552:0.0	.	981	O95625	ZBT11_HUMAN	E	981	ENSP00000326200:Q981E	ENSP00000326200:Q981E	Q	-	1	0	ZBTB11	102852921	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	3.309000	0.51903	2.586000	0.87340	0.555000	0.69702	CAA		0.458	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		16	131	0	0	0	1	0	16	131				
DCC	1630	broad.mit.edu	37	18	50977010	50977010	+	Missense_Mutation	SNP	C	C	T	rs547920182		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr18:50977010C>T	ENST00000442544.2	+	23	3986	c.3370C>T	c.(3370-3372)Cgc>Tgc	p.R1124C	DCC_ENST00000581580.1_Missense_Mutation_p.R759C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1124					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGCACCCGACGCTCTTCAGC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18105	0.0		0.0	False		,,,				2504	0.001					ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3370-3372)Cgc>Tgc		deleted in colorectal carcinoma							101.0	84.0	89.0					18																	50977010		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50977010C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3370C>T	18.37:g.50977010C>T	ENSP00000389140:p.Arg1124Cys					DCC_ENST00000581580.1_Missense_Mutation_p.R759C	p.R1124C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3986	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1124						Missense_Mutation	SNP	ENST00000442544.2	37	c.3370C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357539	0.41801	.	.	ENSG00000187323	ENST00000442544	T	0.59083	0.29	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74662	-0.3590	10	0.87932	D	0	-6.1516	13.5103	0.61508	0.1563:0.8436:0.0:0.0	.	1124	P43146	DCC_HUMAN	C	1124	ENSP00000389140:R1124C	ENSP00000389140:R1124C	R	+	1	0	DCC	49231008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.418000	0.66429	2.684000	0.91462	0.650000	0.86243	CGC		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		6	35	0	0	0	1	0	6	35				
ZSCAN20	7579	broad.mit.edu	37	1	33960504	33960504	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960504C>G	ENST00000361328.3	+	8	2713	c.2560C>G	c.(2560-2562)Caa>Gaa	p.Q854E		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	854					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACAACCTCAAAGTATCAG	0.463																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2560-2562)Caa>Gaa		zinc finger and SCAN domain containing 20							166.0	162.0	163.0					1																	33960504		1907	4141	6048	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960504C>G	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2560C>G	1.37:g.33960504C>G	ENSP00000355053:p.Gln854Glu						p.Q854E	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2713	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	854					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2560C>G	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.600201	0.00125	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.93	3.93	0.45458	.	0.909780	0.09217	N	0.832496	T	0.27278	0.0669	N	0.04880	-0.145	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.17653	-1.0362	9	0.33141	T	0.24	0.2422	16.0925	0.81101	0.0:0.7312:0.2688:0.0	.	853;854	P17040-3;P17040	.;ZSC20_HUMAN	E	854;788;788	.	ENSP00000324450:Q854E	Q	+	1	0	ZSCAN20	33733091	0.000000	0.05858	0.007000	0.13788	0.064000	0.16182	0.245000	0.18142	1.489000	0.48450	0.655000	0.94253	CAA		0.463	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		12	170	0	0	0	1	0	12	170				
SLC25A36	55186	broad.mit.edu	37	3	140675520	140675520	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:140675520C>G	ENST00000324194.6	+	2	361	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	SLC25A36_ENST00000446041.2_Missense_Mutation_p.L65V|SLC25A36_ENST00000453248.2_Missense_Mutation_p.L65V|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000507429.1_Missense_Mutation_p.L65V			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	65					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TCCCGGACCTCTTCATTGCCT	0.428																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(193-195)Ctt>Gtt		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							125.0	123.0	124.0					3																	140675520		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140675520C>G	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.193C>G	3.37:g.140675520C>G	ENSP00000320688:p.Leu65Val					SLC25A36_ENST00000453248.2_Missense_Mutation_p.L65V|SLC25A36_ENST00000507429.1_Missense_Mutation_p.L65V|SLC25A36_ENST00000324194.6_Missense_Mutation_p.L65V|SLC25A36_ENST00000393015.4_3'UTR	p.L65V	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			2	418	+			65					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.193C>G	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493717	0.44352	.	.	ENSG00000114120	ENST00000446041;ENST00000507429;ENST00000324194;ENST00000453248;ENST00000513887	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.4	5.4	0.78164	Mitochondrial carrier domain (2);	0.061520	0.64402	D	0.000002	T	0.69424	0.3109	N	0.20610	0.595	0.52099	D	0.999943	B;B;B;B	0.18013	0.005;0.002;0.025;0.001	B;B;B;B	0.20184	0.02;0.012;0.028;0.005	T	0.63247	-0.6680	10	0.20046	T	0.44	-8.808	17.0144	0.86414	0.0:1.0:0.0:0.0	.	65;65;65;65	B4DL01;Q96CQ1-3;Q96CQ1;F6SDC8	.;.;S2536_HUMAN;.	V	65;65;65;65;15	ENSP00000401938:L65V;ENSP00000421470:L65V;ENSP00000320688:L65V;ENSP00000391521:L65V	ENSP00000320688:L65V	L	+	1	0	SLC25A36	142158210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.523000	0.60545	2.696000	0.92011	0.650000	0.86243	CTT		0.428	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		14	98	0	0	0	1	0	14	98				
PLA2G4C	8605	broad.mit.edu	37	19	48588339	48588339	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:48588339T>C	ENST00000599921.1	-	10	1178	c.821A>G	c.(820-822)aAa>aGa	p.K274R	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.K274R|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.K274R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.K284R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	274	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATGCTTTTAGCATTAGC	0.373																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(820-822)aAa>aGa		phospholipase A2, group IVC (cytosolic, calcium-independent)							105.0	93.0	97.0					19																	48588339		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48588339T>C	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.821A>G	19.37:g.48588339T>C	ENSP00000469473:p.Lys274Arg					PLA2G4C_ENST00000413144.2_Missense_Mutation_p.K274R|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.K274R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.K284R	p.K274R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	10	1148	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	274			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.821A>G	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	T	2.297	-0.361051	0.05103	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04234	3.67;3.67	1.13	1.13	0.20643	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	54.993800	0.00166	U	0.000000	T	0.04770	0.0129	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37174	-0.9717	10	0.32370	T	0.25	.	4.4393	0.11566	0.0:0.0:0.0:1.0	.	284;274	B4DI40;Q9UP65	.;PA24C_HUMAN	R	274	ENSP00000346228:K274R;ENSP00000400036:K274R	ENSP00000346228:K274R	K	-	2	0	PLA2G4C	53280151	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.381000	0.20619	0.766000	0.33244	0.172000	0.16884	AAA		0.373	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			4	44	0	0	0	1	0	4	44				
VCAM1	7412	broad.mit.edu	37	1	101203719	101203719	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:101203719C>T	ENST00000294728.2	+	9	2201	c.2100C>T	c.(2098-2100)ctC>ctT	p.L700L	VCAM1_ENST00000370119.4_Silent_p.L638L|VCAM1_ENST00000370115.1_Silent_p.L501L|VCAM1_ENST00000347652.2_Silent_p.L608L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	700					acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.L700L(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGAGCTTCTCGTGCTCTATT	0.338																																						ENST00000294728.2																			1	Substitution - coding silent(1)	p.L700L(1)	lung(1)	central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2098-2100)ctC>ctT		vascular cell adhesion molecule 1	Carvedilol(DB01136)						157.0	164.0	161.0					1																	101203719		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101203719C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.2100C>T	1.37:g.101203719C>T						VCAM1_ENST00000347652.2_Silent_p.L608L|VCAM1_ENST00000370115.1_Silent_p.L501L|VCAM1_ENST00000370119.4_Silent_p.L638L	p.L700L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	9	2201	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	700					A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.2100C>T	CCDS773.1																																																																																				0.338	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		20	109	0	0	0	1	0	20	109				
ZNF257	113835	broad.mit.edu	37	19	22271673	22271673	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:22271673G>A	ENST00000594947.1	+	4	1265	c.1121G>A	c.(1120-1122)tGt>tAt	p.C374Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCCTACAAATGTGAAGAGTGT	0.378																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1120-1122)tGt>tAt		zinc finger protein 257							38.0	43.0	41.0					19																	22271673		2117	4254	6371	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271673G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1121G>A	19.37:g.22271673G>A	ENSP00000470209:p.Cys374Tyr						p.C374Y	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1265	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	374					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1121G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376913	0.24857	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80701	0.4673	H	0.94964	3.605	0.37450	D	0.914766	D	0.57257	0.979	D	0.64776	0.929	D	0.83586	0.0120	8	0.87932	D	0	.	9.0461	0.36347	0.0:0.0:1.0:0.0	.	374	Q9Y2Q1	ZN257_HUMAN	Y	374;346	.	ENSP00000380312:C346Y	C	+	2	0	ZNF257	22063513	1.000000	0.71417	0.235000	0.24058	0.267000	0.26476	6.461000	0.73522	0.518000	0.28383	0.313000	0.20887	TGT		0.378	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			5	25	0	0	0	1	0	5	25				
UTP15	84135	broad.mit.edu	37	5	72875907	72875907	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:72875907G>T	ENST00000296792.4	+	13	1800	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	UTP15_ENST00000543251.1_Missense_Mutation_p.K325N|UTP15_ENST00000508491.1_Missense_Mutation_p.K496N	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	515					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGAATAAGAAGATAGAATCAT	0.378																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(1543-1545)aaG>aaT		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							86.0	85.0	85.0					5																	72875907		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72875907G>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1545G>T	5.37:g.72875907G>T	ENSP00000296792:p.Lys515Asn					UTP15_ENST00000508491.1_Missense_Mutation_p.K496N|UTP15_ENST00000543251.1_Missense_Mutation_p.K325N	p.K515N	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	13	1800	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	515					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.1545G>T	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.88|13.88	2.370013|2.370013	0.42003|0.42003	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000296792;ENST00000543251;ENST00000508491|ENST00000509005	T;T;T|.	0.56776|.	0.47;0.96;0.44|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.820468|.	0.11592|.	N|.	0.548599|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.30068|.	0.267;0.267|.	B;B|.	0.25140|.	0.058;0.058|.	T|T	0.17379|0.17379	-1.0371|-1.0371	10|5	0.36615|.	T|.	0.2|.	.|.	5.6|5.6	0.17349|0.17349	0.0745:0.1393:0.6413:0.1448|0.0745:0.1393:0.6413:0.1448	.|.	496;515|.	B4DXK8;Q8TED0|.	.;UTP15_HUMAN|.	N|I	515;325;496|542	ENSP00000296792:K515N;ENSP00000440796:K325N;ENSP00000424609:K496N|.	ENSP00000296792:K515N|.	K|R	+|+	3|2	2|0	UTP15|UTP15	72911663|72911663	0.992000|0.992000	0.36948|0.36948	0.794000|0.794000	0.32065|0.32065	0.956000|0.956000	0.61745|0.61745	2.806000|2.806000	0.47947|0.47947	2.831000|2.831000	0.97527|0.97527	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.378	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		4	54	1	0	0.00909568	1	0.00930803	4	54				
CYP27B1	1594	broad.mit.edu	37	12	58160780	58160780	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:58160780G>A	ENST00000228606.4	-	1	254	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	15					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GCGCCCAGCGGACGCGATGGA	0.612																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(43-45)gtC>gtT		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						83.0	98.0	93.0					12																	58160780		2203	4300	6503	SO:0001819	synonymous_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160780G>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.45C>T	12.37:g.58160780G>A						RP11-571M6.13_ENST00000546609.1_RNA	p.V15V	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	254	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		15					B2RC61|Q548T3	Silent	SNP	ENST00000228606.4	37	c.45C>T	CCDS8954.1																																																																																				0.612	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		5	118	0	0	0	1	0	5	118				
MMP10	4319	broad.mit.edu	37	11	102643601	102643601	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:102643601G>C	ENST00000279441.4	-	8	1239	c.1203C>G	c.(1201-1203)ttC>ttG	p.F401L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	401					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CCGCTGCAAAGAAGTATGTTT	0.383																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(1201-1203)ttC>ttG		matrix metallopeptidase 10 (stromelysin 2)							179.0	179.0	179.0					11																	102643601		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102643601G>C	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1203C>G	11.37:g.102643601G>C	ENSP00000279441:p.Phe401Leu						p.F401L	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	8	1239	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	401			Hemopexin-like 3.		B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.1203C>G	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750798	0.49257	.	.	ENSG00000166670	ENST00000279441	T	0.06142	3.34	4.46	4.46	0.54185	Hemopexin/matrixin (2);	0.000000	0.50627	D	0.000106	T	0.24084	0.0583	M	0.68728	2.09	0.43444	D	0.995625	D	0.76494	0.999	D	0.81914	0.995	T	0.00912	-1.1517	10	0.66056	D	0.02	.	17.6796	0.88239	0.0:0.0:1.0:0.0	.	401	P09238	MMP10_HUMAN	L	401	ENSP00000279441:F401L	ENSP00000279441:F401L	F	-	3	2	MMP10	102148811	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	1.337000	0.33862	2.459000	0.83118	0.650000	0.86243	TTC		0.383	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			9	136	0	0	0	1	0	9	136				
SNX25	83891	broad.mit.edu	37	4	186283801	186283801	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:186283801G>C	ENST00000504273.1	+	18	2672	c.2378G>C	c.(2377-2379)cGc>cCc	p.R793P	SNX25_ENST00000264694.8_Missense_Mutation_p.R793P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	793					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAAAATGCCCGCCACGGTATA	0.393																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(2377-2379)cGc>cCc		sorting nexin 25							158.0	175.0	169.0					4																	186283801		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186283801G>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2378G>C	4.37:g.186283801G>C	ENSP00000426255:p.Arg793Pro					SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.R793P	p.R793P			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	18	2672	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	793					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.2378G>C	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691755	0.88735	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.33654	1.4;1.4	5.09	5.09	0.68999	Sorting nexin, C-terminal (1);	0.105878	0.64402	D	0.000003	T	0.64811	0.2632	M	0.84082	2.675	0.58432	D	0.999999	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.77004	0.973;0.985;0.989	T	0.68398	-0.5419	10	0.56958	D	0.05	-11.0199	18.6922	0.91588	0.0:0.0:1.0:0.0	.	509;326;793	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	P	793;793;326	ENSP00000426255:R793P;ENSP00000264694:R793P	ENSP00000264693:R326P	R	+	2	0	SNX25	186520795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.748000	0.91615	2.667000	0.90743	0.561000	0.74099	CGC		0.393	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		16	151	0	0	0	1	0	16	151				
PEX2	5828	broad.mit.edu	37	8	77896226	77896226	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:77896226G>A	ENST00000419564.2	-	4	653	c.189C>T	c.(187-189)ttC>ttT	p.F63F	PEX2_ENST00000357039.4_Silent_p.F63F|PEX2_ENST00000522527.1_Silent_p.F63F|PEX2_ENST00000520103.1_Silent_p.F63F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	63					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ATCTCCACAAGAAAACCCATA	0.428																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(187-189)ttC>ttT		peroxisomal biogenesis factor 2							57.0	57.0	57.0					8																	77896226		2203	4300	6503	SO:0001819	synonymous_variant	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77896226G>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.189C>T	8.37:g.77896226G>A						PEX2_ENST00000357039.4_Silent_p.F63F|PEX2_ENST00000522527.1_Silent_p.F63F|PEX2_ENST00000520103.1_Silent_p.F63F	p.F63F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	653	-			63					Q567S6|Q9BW41	Silent	SNP	ENST00000419564.2	37	c.189C>T	CCDS6221.1																																																																																				0.428	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		6	58	0	0	0	1	0	6	58				
CLK2	1196	broad.mit.edu	37	1	155235737	155235737	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:155235737C>G	ENST00000368361.4	-	8	1162	c.847G>C	c.(847-849)Gat>Cat	p.D283H	CLK2_ENST00000355560.4_Missense_Mutation_p.D281H|CLK2_ENST00000361168.5_Missense_Mutation_p.D282H|CLK2_ENST00000536801.1_Missense_Mutation_p.D283H|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	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)	p.D283N(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTTGTTATCATGGAGGACT	0.502								Other conserved DNA damage response genes																														ENST00000368361.4																			1	Substitution - Missense(1)	p.D283N(1)	prostate(1)	endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(847-849)Gat>Cat	Other conserved DNA damage response genes	CDC-like kinase 2							135.0	125.0	128.0					1																	155235737		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155235737C>G	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.847G>C	1.37:g.155235737C>G	ENSP00000357345:p.Asp283His					CLK2_ENST00000355560.4_Missense_Mutation_p.D281H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.D282H|CLK2_ENST00000536801.1_Missense_Mutation_p.D283H	p.D283H			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1162	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		283			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.847G>C		.	.	.	.	.	.	.	.	.	.	.	20.1	3.940290	0.73557	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045544	0.85682	D	0.000000	T	0.15262	0.0368	L	0.53617	1.68	0.80722	D	1	B;B	0.18310	0.027;0.022	B;B	0.27380	0.079;0.047	T	0.01786	-1.1274	10	0.40728	T	0.16	.	17.5549	0.87887	0.0:1.0:0.0:0.0	.	283;282	P49760;P49760-3	CLK2_HUMAN;.	H	282;283;281;55;283	ENSP00000354856:D282H;ENSP00000357345:D283H;ENSP00000347759:D281H;ENSP00000441023:D283H	ENSP00000347759:D281H	D	-	1	0	CLK2	153502361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.806000	0.96561	0.655000	0.94253	GAT		0.502	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	80	0	0	0	1	0	4	80				
PKD1L1	168507	broad.mit.edu	37	7	47970749	47970749	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:47970749T>A	ENST00000289672.2	-	6	739	c.689A>T	c.(688-690)cAg>cTg	p.Q230L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	230					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGCACTCGCTGGGAGCTGGT	0.612																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(688-690)cAg>cTg		polycystic kidney disease 1 like 1							55.0	56.0	56.0					7																	47970749		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47970749T>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.689A>T	7.37:g.47970749T>A	ENSP00000289672:p.Gln230Leu						p.Q230L	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			6	739	-			230					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.689A>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	5.566	0.289355	0.10513	.	.	ENSG00000158683	ENST00000289672	T	0.21734	1.99	2.39	1.14	0.20703	.	497.423000	0.00166	N	0.000000	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.14578	0.011	T	0.27434	-1.0074	10	0.66056	D	0.02	.	5.2922	0.15733	0.0:0.0:0.301:0.699	.	230	Q8TDX9	PK1L1_HUMAN	L	230	ENSP00000289672:Q230L	ENSP00000289672:Q230L	Q	-	2	0	PKD1L1	47937274	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.600000	0.24104	0.306000	0.22856	0.477000	0.44152	CAG		0.612	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	45	0	0	0	1	0	6	45				
ALPK2	115701	broad.mit.edu	37	18	56203977	56203977	+	Missense_Mutation	SNP	G	G	C	rs112151030	byFrequency	TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr18:56203977G>C	ENST00000361673.3	-	5	3655	c.3442C>G	c.(3442-3444)Ctt>Gtt	p.L1148V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1148						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTGCAGAAAGAGAACCCTGC	0.517													G|||	8	0.00159744	0.0061	0.0	5008	,	,		21268	0.0		0.0	False		,,,				2504	0.0					ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3442-3444)Ctt>Gtt		alpha-kinase 2		G	VAL/LEU	23,4383	29.9+/-59.1	0,23,2180	110.0	113.0	112.0		3442	-2.1	0.0	18	dbSNP_132	112	0,8600		0,0,4300	yes	missense	ALPK2	NM_052947.3	32	0,23,6480	CC,CG,GG		0.0,0.522,0.1768	benign	1148/2171	56203977	23,12983	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203977G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3442C>G	18.37:g.56203977G>C	ENSP00000354991:p.Leu1148Val					RP11-1151B14.4_ENST00000591360.1_RNA	p.L1148V	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3655	-			1148					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3442C>G	CCDS11966.2	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	9.293	1.051210	0.19827	0.00522	0.0	ENSG00000198796	ENST00000361673	T	0.48201	0.82	5.06	-2.08	0.07254	.	2.213350	0.01528	N	0.018648	T	0.29684	0.0741	L	0.34521	1.04	0.09310	N	1	B;B	0.20550	0.046;0.01	B;B	0.24974	0.057;0.003	T	0.26916	-1.0089	10	0.46703	T	0.11	1.492	6.129	0.20195	0.2593:0.3767:0.364:0.0	.	1143;1148	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	V	1148	ENSP00000354991:L1148V	ENSP00000354991:L1148V	L	-	1	0	ALPK2	54354957	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.071000	0.11505	-0.332000	0.08489	-0.176000	0.13171	CTT		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		7	134	0	0	0	1	0	7	134				
TFB2M	64216	broad.mit.edu	37	1	246704444	246704444	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:246704444C>T	ENST00000366514.4	-	8	1265	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	360					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TAACTACTTTCTCATCCTCCT	0.353																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1078-1080)gaG>gaA		transcription factor B2, mitochondrial							131.0	113.0	119.0					1																	246704444		2203	4300	6503	SO:0001819	synonymous_variant	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246704444C>T	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1080G>A	1.37:g.246704444C>T							p.E360E	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		8	1265	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		360					Q9H626	Silent	SNP	ENST00000366514.4	37	c.1080G>A	CCDS1627.1																																																																																				0.353	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		4	37	0	0	0	1	0	4	37				
C6orf118	168090	broad.mit.edu	37	6	165715297	165715297	+	Missense_Mutation	SNP	G	G	T	rs368120575		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:165715297G>T	ENST00000230301.8	-	2	534	c.514C>A	c.(514-516)Cgc>Agc	p.R172S	C6orf118_ENST00000543069.1_Missense_Mutation_p.R68S	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	172										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCCTCCTGCGCCATCCAGGA	0.612																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(202-204)Cgc>Agc		chromosome 6 open reading frame 118							36.0	43.0	41.0					6																	165715297		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715297G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.514C>A	6.37:g.165715297G>T	ENSP00000230301:p.Arg172Ser					C6orf118_ENST00000230301.8_Missense_Mutation_p.R172S	p.R68S			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	783	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	172					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.202C>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139950	0.37728	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.15372	2.43;2.43	4.9	2.65	0.31530	.	1.078630	0.07128	N	0.845119	T	0.07818	0.0196	L	0.37630	1.12	0.09310	N	1	D	0.57257	0.979	P	0.48166	0.569	T	0.22871	-1.0204	10	0.40728	T	0.16	-2.1062	6.2809	0.21007	0.1365:0.1855:0.678:0.0	.	172	Q5T5N4	CF118_HUMAN	S	172;68	ENSP00000230301:R172S;ENSP00000439288:R68S	ENSP00000230301:R172S	R	-	1	0	C6orf118	165635287	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	1.581000	0.36558	1.165000	0.42670	-0.176000	0.13171	CGC		0.612	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		18	35	1	0	5.3912e-06	1	5.88335e-06	18	35				
NID2	22795	broad.mit.edu	37	14	52520354	52520354	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:52520354A>C	ENST00000216286.5	-	5	1371	c.1372T>G	c.(1372-1374)Tta>Gta	p.L458V	NID2_ENST00000541773.1_Missense_Mutation_p.L405V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	458					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTCGACTTAAGGGTGTAGTG	0.493																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1372-1374)Tta>Gta		nidogen 2 (osteonidogen)							141.0	142.0	142.0					14																	52520354		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520354A>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1372T>G	14.37:g.52520354A>C	ENSP00000216286:p.Leu458Val					NID2_ENST00000541773.1_Missense_Mutation_p.L405V	p.L458V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1371	-	Breast(41;0.0639)|all_epithelial(31;0.123)		458					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1372T>G	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	a	9.095	1.002749	0.19121	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83419	-1.72;-1.62	5.61	-1.72	0.08107	.	1.635860	0.03457	N	0.211693	T	0.70002	0.3174	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17852	0.001;0.024;0.001	B;B;B	0.10450	0.003;0.005;0.002	T	0.47898	-0.9081	10	0.17369	T	0.5	.	2.071	0.03614	0.2489:0.4353:0.1703:0.1455	.	405;460;458	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	V	458;405;460	ENSP00000216286:L458V;ENSP00000443730:L405V	ENSP00000216286:L458V	L	-	1	2	NID2	51590104	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.488000	0.22371	-0.187000	0.10516	-0.866000	0.03004	TTA		0.493	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			20	116	0	0	0	1	0	20	116				
ABCA1	19	broad.mit.edu	37	9	107553272	107553272	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:107553272G>A	ENST00000374736.3	-	44	6252	c.5858C>T	c.(5857-5859)tCa>tTa	p.S1953L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1953	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GAAAGTTGATGATTTTCCAGC	0.383																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5857-5859)tCa>tTa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						124.0	130.0	128.0					9																	107553272		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107553272G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5858C>T	9.37:g.107553272G>A	ENSP00000363868:p.Ser1953Leu						p.S1953L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	44	6252	-			1953			ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5858C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272182	0.80469	.	.	ENSG00000165029	ENST00000374736	D	0.97256	-4.31	5.69	5.69	0.88448	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.132015	0.50627	D	0.000111	D	0.98093	0.9371	H	0.97103	3.94	0.80722	D	1	B	0.14805	0.011	B	0.21360	0.034	D	0.96310	0.9228	10	0.87932	D	0	.	19.8126	0.96553	0.0:0.0:1.0:0.0	.	1953	O95477	ABCA1_HUMAN	L	1953	ENSP00000363868:S1953L	ENSP00000363868:S1953L	S	-	2	0	ABCA1	106593093	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.864000	0.99589	2.680000	0.91292	0.650000	0.86243	TCA		0.383	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		5	139	0	0	0	1	0	5	139				
ZSCAN20	7579	broad.mit.edu	37	1	33960512	33960512	+	Silent	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960512C>T	ENST00000361328.3	+	8	2721	c.2568C>T	c.(2566-2568)atC>atT	p.I856I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	856					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCAAAGTATCAGTAAGGACT	0.468																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2566-2568)atC>atT		zinc finger and SCAN domain containing 20							164.0	161.0	162.0					1																	33960512		1921	4149	6070	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960512C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2568C>T	1.37:g.33960512C>T							p.I856I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2721	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	856					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.2568C>T	CCDS41300.1																																																																																				0.468	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		13	169	0	0	0	1	0	13	169				
XPO5	57510	broad.mit.edu	37	6	43492249	43492249	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:43492249C>T	ENST00000265351.7	-	31	3647	c.3437G>A	c.(3436-3438)cGa>cAa	p.R1146Q	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1146					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTGGTCCTTTCGGCGCTTGTC	0.488																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(3436-3438)cGa>cAa		exportin 5							101.0	105.0	104.0					6																	43492249		1918	4112	6030	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43492249C>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3437G>A	6.37:g.43492249C>T	ENSP00000265351:p.Arg1146Gln					POLR1C_ENST00000304004.3_Intron	p.R1146Q	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		31	3647	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		1146					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.3437G>A	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108222	0.94292	.	.	ENSG00000124571	ENST00000265351;ENST00000372258;ENST00000439465	T	0.66460	-0.21	6.06	6.06	0.98353	Armadillo-type fold (1);	0.052879	0.64402	D	0.000001	T	0.56247	0.1972	M	0.62723	1.935	0.46499	D	0.999077	D	0.62365	0.991	P	0.47102	0.537	T	0.61525	-0.7045	10	0.02654	T	1	-19.1543	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1146	Q9HAV4	XPO5_HUMAN	Q	1146;686;774	ENSP00000265351:R1146Q	ENSP00000265351:R1146Q	R	-	2	0	XPO5	43600227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.558000	0.67319	2.882000	0.98803	0.655000	0.94253	CGA		0.488	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		11	44	0	0	0	1	0	11	44				
OR51L1	119682	broad.mit.edu	37	11	5020812	5020812	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:5020812T>A	ENST00000321543.1	+	1	600	c.600T>A	c.(598-600)taT>taA	p.Y200*		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	200						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTATTTATGGGCTTTGTG	0.428																																						ENST00000321543.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(598-600)taT>taA		olfactory receptor, family 51, subfamily L, member 1							235.0	202.0	213.0					11																	5020812		2201	4298	6499	SO:0001587	stop_gained	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020812T>A	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.600T>A	11.37:g.5020812T>A	ENSP00000322156:p.Tyr200*						p.Y200*	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	600	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	200					Q6IFE5	Nonsense_Mutation	SNP	ENST00000321543.1	37	c.600T>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116755	0.37339	.	.	ENSG00000176798	ENST00000321543	.	.	.	5.18	2.88	0.33553	.	0.000000	0.40144	N	0.001165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7414	0.28843	0.0:0.2469:0.0:0.7531	.	.	.	.	X	200	.	ENSP00000322156:Y200X	Y	+	3	2	OR51L1	4977388	0.998000	0.40836	0.994000	0.49952	0.120000	0.20174	0.331000	0.19733	0.444000	0.26612	0.455000	0.32223	TAT		0.428	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		8	55	0	0	0	1	0	8	55				
MAML2	84441	broad.mit.edu	37	11	95826265	95826265	+	Silent	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:95826265G>A	ENST00000524717.1	-	2	2214	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	310					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCAGTTCATTGAACAGTTCCT	0.453			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(928-930)ttC>ttT		mastermind-like 2 (Drosophila)							153.0	147.0	149.0					11																	95826265		2055	4206	6261	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95826265G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.930C>T	11.37:g.95826265G>A							p.F310F	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	2214	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	310					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.930C>T	CCDS44714.1																																																																																				0.453	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			6	74	0	0	0	1	0	6	74				
CAD	790	broad.mit.edu	37	2	27446491	27446491	+	Silent	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:27446491G>C	ENST00000403525.1	+	7	1014	c.870G>C	c.(868-870)ctG>ctC	p.L290L	CAD_ENST00000264705.4_Silent_p.L290L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.L290L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTTTCTGACATCCCAGA	0.567																																						ENST00000264705.4																			1	Substitution - coding silent(1)	p.L290L(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(868-870)ctG>ctC		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						185.0	179.0	181.0					2																	27446491		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446491G>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.870G>C	2.37:g.27446491G>C						CAD_ENST00000403525.1_Silent_p.L290L	p.L290L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			7	1032	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		290			GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.870G>C																																																																																					0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			6	165	0	0	0	1	0	6	165				
TIGD7	91151	broad.mit.edu	37	16	3350076	3350076	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:3350076G>C	ENST00000396862.1	-	2	2367	c.539C>G	c.(538-540)aCa>aGa	p.T180R	TIGD7_ENST00000268674.2_Missense_Mutation_p.T180R|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	180	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						aaagaggtctgtttcatcccc	0.398																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(538-540)aCa>aGa		tigger transposable element derived 7							157.0	155.0	155.0					16																	3350076		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350076G>C	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.539C>G	16.37:g.3350076G>C	ENSP00000380071:p.Thr180Arg					TIGD7_ENST00000268674.2_Missense_Mutation_p.T180R	p.T180R	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	2367	-			180			DDE.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.539C>G	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305469	0.60305	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.58506	0.33;0.33	5.22	5.22	0.72569	.	0.000000	0.39341	U	0.001389	T	0.75332	0.3835	M	0.81112	2.525	0.33319	D	0.567084	D	0.63046	0.992	D	0.65443	0.935	D	0.84102	0.0396	10	0.87932	D	0	.	14.2675	0.66129	0.0:0.0:1.0:0.0	.	180	Q6NT04	TIGD7_HUMAN	R	180	ENSP00000380071:T180R;ENSP00000268674:T180R	ENSP00000268674:T180R	T	-	2	0	TIGD7	3290077	0.874000	0.30092	0.997000	0.53966	0.982000	0.71751	3.075000	0.50073	2.442000	0.82660	0.655000	0.94253	ACA		0.398	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		44	148	0	0	0	1	0	44	148				
PDK3	5165	broad.mit.edu	37	X	24521477	24521477	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:24521477A>T	ENST00000379162.4	+	4	589	c.354A>T	c.(352-354)agA>agT	p.R118S	PDK3_ENST00000441463.2_Missense_Mutation_p.R118S	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	118					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCAGAAATAGACACAATGATG	0.403																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(352-354)agA>agT		pyruvate dehydrogenase kinase, isozyme 3							139.0	122.0	128.0					X																	24521477		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24521477A>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.354A>T	X.37:g.24521477A>T	ENSP00000368460:p.Arg118Ser					PDK3_ENST00000379162.4_Missense_Mutation_p.R118S	p.R118S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			4	354	+			118					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.354A>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770642	0.69992	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.35605	1.3;1.3	5.73	0.699	0.18093	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.982;0.987	T	0.62595	-0.6821	10	0.87932	D	0	.	9.0502	0.36372	0.5979:0.0:0.4021:0.0	.	118;118	B4DXG6;Q15120	.;PDK3_HUMAN	S	118	ENSP00000368460:R118S;ENSP00000387536:R118S	ENSP00000368460:R118S	R	+	3	2	PDK3	24431398	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.913000	0.28611	0.000000	0.14550	-0.438000	0.05819	AGA		0.403	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	15	0	0	0	1	0	8	15				
FNDC3A	22862	broad.mit.edu	37	13	49720032	49720032	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:49720032C>G	ENST00000492622.2	+	8	1243	c.938C>G	c.(937-939)tCa>tGa	p.S313*	FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.S313*|FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.S257*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	313	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTTCTGATCTCAAGTACTGGA	0.368																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(937-939)tCa>tGa		fibronectin type III domain containing 3A							158.0	155.0	156.0					13																	49720032		2203	4300	6503	SO:0001587	stop_gained	22862					Golgi membrane|integral to membrane		g.chr13:49720032C>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.938C>G	13.37:g.49720032C>G	ENSP00000417257:p.Ser313*					FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.S257*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.S313*	p.S313*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	8	1243	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	313			Fibronectin type-III 1.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Nonsense_Mutation	SNP	ENST00000492622.2	37	c.938C>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464887	0.96257	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	.	.	.	5.4	5.4	0.78164	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-14.6631	18.5209	0.90952	0.0:1.0:0.0:0.0	.	.	.	.	X	313;249;313;257	.	ENSP00000338579:S249X	S	+	2	0	FNDC3A	48618033	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	6.033000	0.70925	2.687000	0.91594	0.591000	0.81541	TCA		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		4	51	0	0	0	1	0	4	51				
HBM	3042	broad.mit.edu	37	16	216647	216647	+	Silent	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:216647A>G	ENST00000356815.3	+	3	386	c.366A>G	c.(364-366)caA>caG	p.Q122Q	HBM_ENST00000472539.1_3'UTR	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	122						extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGCAAATGCAAGCGGCGTGGG	0.602																																						ENST00000356815.3																			0											c.(364-366)caA>caG		hemoglobin, mu							110.0	87.0	95.0					16																	216647		2203	4300	6503	SO:0001819	synonymous_variant	3042					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:216647A>G	BC035682	CCDS32347.1	16p13.3	2014-05-19	2006-05-12	2006-05-12	ENSG00000206177	ENSG00000206177			4826	protein-coding gene	gene with protein product		609639	"""hemoglobin, alpha pseudogene 2"""	HBAP2		2649166, 2825132, 15855277	Standard	NM_001003938		Approved	HBK	uc002cfu.1	Q6B0K9	OTTHUMG00000059926	ENST00000356815.3:c.366A>G	16.37:g.216647A>G						HBM_ENST00000472539.1_3'UTR	p.Q122Q	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN			3	386	+		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	122						Silent	SNP	ENST00000356815.3	37	c.366A>G	CCDS32347.1																																																																																				0.602	HBM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133201.1	NM_001003938		4	22	0	0	0	1	0	4	22				
KIAA1377	57562	broad.mit.edu	37	11	101829032	101829032	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:101829032G>A	ENST00000263468.8	+	5	910	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	KIAA1377_ENST00000537689.1_Missense_Mutation_p.V15M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	214										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TAGCAAAAATGTGTTCCAGCT	0.323																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(640-642)Gtg>Atg		KIAA1377							136.0	146.0	143.0					11																	101829032		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101829032G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.640G>A	11.37:g.101829032G>A	ENSP00000263468:p.Val214Met					KIAA1377_ENST00000537689.1_Missense_Mutation_p.V15M	p.V214M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	910	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	214					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.640G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767906	0.49680	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07688	3.17;3.17	5.68	1.29	0.21616	.	1.138710	0.06635	N	0.759990	T	0.07863	0.0197	L	0.51422	1.61	0.09310	N	1	B	0.24920	0.114	B	0.20955	0.032	T	0.42816	-0.9429	10	0.40728	T	0.16	0.1199	0.9805	0.01435	0.2747:0.2324:0.3504:0.1425	.	214	Q9P2H0	K1377_HUMAN	M	214;15	ENSP00000263468:V214M;ENSP00000443184:V15M	ENSP00000263468:V214M	V	+	1	0	KIAA1377	101334242	0.300000	0.24435	0.632000	0.29296	0.932000	0.56968	0.585000	0.23879	0.763000	0.33175	0.650000	0.86243	GTG		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		9	153	0	0	0	1	0	9	153				
CSMD3	114788	broad.mit.edu	37	8	113331173	113331173	+	Missense_Mutation	SNP	A	A	T	rs561734403		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:113331173A>T	ENST00000297405.5	-	47	7497	c.7253T>A	c.(7252-7254)aTt>aAt	p.I2418N	CSMD3_ENST00000352409.3_Missense_Mutation_p.I2348N|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2378N|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2314N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2418	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACCTAATAATATCACCTAT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7252-7254)aTt>aAt		CUB and Sushi multiple domains 3							79.0	73.0	75.0					8																	113331173		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113331173A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7253T>A	8.37:g.113331173A>T	ENSP00000297405:p.Ile2418Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.I2314N|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2378N|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2348N	p.I2418N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			47	7497	-			2418			Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7253T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517817	0.85495	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.71341	0.3328	L	0.43757	1.38	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.91635	0.999;0.999;0.983	T	0.66240	-0.5973	10	0.17832	T	0.49	.	15.9436	0.79776	1.0:0.0:0.0:0.0	.	2314;2418;2378	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2378;2418;1688;2314;2348	ENSP00000345799:I2378N;ENSP00000297405:I2418N;ENSP00000341558:I1688N;ENSP00000412263:I2314N;ENSP00000343124:I2348N	ENSP00000297405:I2418N	I	-	2	0	CSMD3	113400349	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.217000	0.95160	2.182000	0.69389	0.391000	0.25812	ATT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	28	0	0	0	1	0	5	28				
KCNA6	3742	broad.mit.edu	37	12	4919462	4919462	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:4919462C>G	ENST00000280684.3	+	1	1121	c.255C>G	c.(253-255)ttC>ttG	p.F85L	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.F85L			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	85					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ACGAGTACTTCTTCGACCGCA	0.632										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(253-255)ttC>ttG		potassium voltage-gated channel, shaker-related subfamily, member 6							51.0	54.0	53.0					12																	4919462		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919462C>G	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.255C>G	12.37:g.4919462C>G	ENSP00000280684:p.Phe85Leu	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.F85L	p.F85L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1121	+			85						Missense_Mutation	SNP	ENST00000280684.3	37	c.255C>G	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037029	0.75617	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.83591	-1.74;-1.74	4.45	3.56	0.40772	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.102088	0.64402	D	0.000002	D	0.93141	0.7816	H	0.96080	3.765	0.52099	D	0.999945	D	0.89917	1.0	D	0.97110	1.0	D	0.93954	0.7234	10	0.87932	D	0	.	11.482	0.50331	0.0:0.9121:0.0:0.0879	.	85	P17658	KCNA6_HUMAN	L	85	ENSP00000408321:F85L;ENSP00000280684:F85L	ENSP00000280684:F85L	F	+	3	2	KCNA6	4789723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.183000	0.32041	1.071000	0.40834	0.462000	0.41574	TTC		0.632	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		4	84	0	0	0	1	0	4	84				
CYP4F22	126410	broad.mit.edu	37	19	15651283	15651283	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:15651283G>A	ENST00000269703.3	+	8	893	c.694G>A	c.(694-696)Gct>Act	p.A232T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A232T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	232						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TTATATCTCCGCTATCATTGA	0.552																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(694-696)Gct>Act		cytochrome P450, family 4, subfamily F, polypeptide 22							86.0	81.0	83.0					19																	15651283		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651283G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.694G>A	19.37:g.15651283G>A	ENSP00000269703:p.Ala232Thr					CYP4F22_ENST00000601005.2_Missense_Mutation_p.A232T	p.A232T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			8	893	+			232					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.694G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510974	0.44660	.	.	ENSG00000171954	ENST00000269703	T	0.70869	-0.52	5.39	3.21	0.36854	.	0.053613	0.64402	D	0.000001	T	0.69993	0.3173	M	0.81239	2.535	0.48632	D	0.999681	B	0.28419	0.211	B	0.32342	0.144	T	0.67070	-0.5763	10	0.52906	T	0.07	.	8.1494	0.31132	0.0843:0.0:0.7535:0.1622	.	232	Q6NT55	CP4FN_HUMAN	T	232	ENSP00000269703:A232T	ENSP00000269703:A232T	A	+	1	0	CYP4F22	15512283	1.000000	0.71417	0.498000	0.27564	0.093000	0.18481	4.036000	0.57304	0.604000	0.29930	0.453000	0.30009	GCT		0.552	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		8	74	0	0	0	1	0	8	74				
CCDC18	343099	broad.mit.edu	37	1	93698028	93698028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:93698028C>T	ENST00000343253.7	+	18	2837	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*	CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Nonsense_Mutation_p.Q75*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q898*|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q780*|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.Q535*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	779										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCACAGTCTTCAAGAGACTTC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2335-2337)Caa>Taa		coiled-coil domain containing 18							96.0	91.0	92.0					1																	93698028		1820	4081	5901	SO:0001587	stop_gained	343099							g.chr1:93698028C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2335C>T	1.37:g.93698028C>T	ENSP00000343377:p.Gln779*					CCDC18_ENST00000338949.4_Nonsense_Mutation_p.Q535*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q898*|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q780*|CCDC18_ENST00000334652.5_Nonsense_Mutation_p.Q75*|CCDC18_ENST00000421014.2_3'UTR	p.Q779*			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	18	2837	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	779					Q6ZU17	Nonsense_Mutation	SNP	ENST00000343253.7	37	c.2335C>T		.	.	.	.	.	.	.	.	.	.	C	54	21.843487	0.99943	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	.	.	.	5.71	3.75	0.43078	.	0.275124	0.36268	N	0.002687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.8425	0.78861	0.0:0.7344:0.2656:0.0	.	.	.	.	X	779;780;898;535;75;455	.	ENSP00000334084:Q75X	Q	+	1	0	CCDC18	93470616	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	3.311000	0.51919	0.691000	0.31592	0.563000	0.77884	CAA		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		5	56	0	0	0	1	0	5	56				
LOC81691	81691	broad.mit.edu	37	16	20838439	20838439	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:20838439A>G	ENST00000261377.6	+	9	1090	c.881A>G	c.(880-882)cAg>cGg	p.Q294R	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.Q294R|AC004381.6_ENST00000348433.6_Missense_Mutation_p.Q294R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AAAGATGTACAGAGGCAGTTA	0.413																																						ENST00000261377.6																			0											c.(880-882)cAg>cGg									124.0	116.0	119.0					16																	20838439		2201	4300	6501	SO:0001583	missense	81691							g.chr16:20838439A>G																												ENST00000261377.6:c.881A>G	16.37:g.20838439A>G	ENSP00000261377:p.Gln294Arg					AC004381.6_ENST00000348433.6_Missense_Mutation_p.Q294R|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.Q294R	p.Q294R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					9	1090	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.881A>G	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557515	0.86231	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.22945	1.93;1.93	5.22	5.22	0.72569	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.54908	1.71	0.58432	D	0.999992	D;D	0.71674	0.973;0.998	P;D	0.80764	0.868;0.994	T	0.43940	-0.9360	10	0.72032	D	0.01	-13.9957	14.094	0.65008	1.0:0.0:0.0:0.0	.	294;294	Q96IC2-2;Q96IC2	.;REXON_HUMAN	R	294	ENSP00000261378:Q294R;ENSP00000261377:Q294R	ENSP00000261377:Q294R	Q	+	2	0	AC004381.6	20745940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.851000	0.75425	1.970000	0.57323	0.533000	0.62120	CAG		0.413	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			5	78	0	0	0	1	0	5	78				
RNF113B	140432	broad.mit.edu	37	13	98828834	98828834	+	Silent	SNP	A	A	G			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:98828834A>G	ENST00000267291.6	-	1	685	c.657T>C	c.(655-657)gaT>gaC	p.D219D	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	219							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGAGCTTGTAATCGGAACGGT	0.542																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(655-657)gaT>gaC		ring finger protein 113B							89.0	82.0	85.0					13																	98828834		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98828834A>G	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.657T>C	13.37:g.98828834A>G						FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	p.D219D	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	685	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		219					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.657T>C	CCDS9486.1																																																																																				0.542	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		13	76	0	0	0	1	0	13	76				
SGPP1	81537	broad.mit.edu	37	14	64165370	64165370	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:64165370G>C	ENST00000247225.6	-	2	785	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	231					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CCATATATAAGAGGGTACTAA	0.303																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(691-693)Ctt>Gtt		sphingosine-1-phosphate phosphatase 1							56.0	56.0	56.0					14																	64165370		2203	4293	6496	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64165370G>C	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.691C>G	14.37:g.64165370G>C	ENSP00000247225:p.Leu231Val						p.L231V	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	2	785	-			231					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.691C>G	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952404	0.53293	.	.	ENSG00000126821	ENST00000247225	T	0.40225	1.04	5.6	4.69	0.59074	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.542340	0.20735	N	0.086643	T	0.32436	0.0829	L	0.39692	1.235	0.34278	D	0.681759	P	0.51057	0.941	P	0.45167	0.472	T	0.36672	-0.9738	10	0.13470	T	0.59	-42.0084	7.1782	0.25757	0.1455:0.1465:0.708:0.0	.	231	Q9BX95	SGPP1_HUMAN	V	231	ENSP00000247225:L231V	ENSP00000247225:L231V	L	-	1	0	SGPP1	63235123	1.000000	0.71417	0.982000	0.44146	0.844000	0.47949	3.445000	0.52921	1.449000	0.47699	0.655000	0.94253	CTT		0.303	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		3	38	0	0	0	1	0	3	38				
SNPH	9751	broad.mit.edu	37	20	1285974	1285974	+	Missense_Mutation	SNP	G	G	A	rs144751280		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:1285974G>A	ENST00000381873.3	+	6	997	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	SNPH_ENST00000381867.1_Missense_Mutation_p.R298Q	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	254					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACACTGAGCCGGACGGACGCG	0.687																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(892-894)cGg>cAg		syntaphilin		G	GLN/ARG	1,4391		0,1,2195	35.0	34.0	34.0		761	4.8	1.0	20	dbSNP_134	34	0,8546		0,0,4273	no	missense	SNPH	NM_014723.2	43	0,1,6468	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	254/495	1285974	1,12937	2196	4273	6469	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285974G>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.761G>A	20.37:g.1285974G>A	ENSP00000371297:p.Arg254Gln					SNPH_ENST00000381873.3_Missense_Mutation_p.R254Q	p.R298Q			O15079	SNPH_HUMAN			7	1535	+			254					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.893G>A	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843046	0.32606	2.28E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.291378	0.28989	N	0.013493	T	0.29288	0.0729	N	0.25890	0.77	0.34613	D	0.717786	P;P	0.38745	0.645;0.576	B;B	0.29077	0.098;0.07	T	0.42582	-0.9443	9	0.25106	T	0.35	-30.7622	12.3656	0.55226	0.0839:0.0:0.9161:0.0	.	298;254	O15079-2;O15079	.;SNPH_HUMAN	Q	254;298	.	ENSP00000371291:R298Q	R	+	2	0	SNPH	1233974	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.840000	0.55843	2.479000	0.83701	0.561000	0.74099	CGG		0.687	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		6	41	0	0	0	1	0	6	41				
KRTAP12-3	386683	broad.mit.edu	37	21	46077981	46077981	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr21:46077981A>T	ENST00000397907.1	+	1	133	c.85A>T	c.(85-87)Agc>Tgc	p.S29C	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	29	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCCGTGAGCTGCCAGTC	0.677																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(85-87)Agc>Tgc		keratin associated protein 12-3							89.0	103.0	98.0					21																	46077981		2187	4269	6456	SO:0001583	missense	386683					intermediate filament		g.chr21:46077981A>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.85A>T	21.37:g.46077981A>T	ENSP00000381005:p.Ser29Cys					TSPEAR_ENST00000323084.4_Intron	p.S29C	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	133	+			29			14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.85A>T	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	N	19.07	3.755719	0.69648	.	.	ENSG00000205439	ENST00000546091;ENST00000397907	T	0.00816	5.66	4.51	-5.71	0.02413	.	.	.	.	.	T	0.00637	0.0021	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.45542	-0.9254	8	0.25751	T	0.34	.	5.4284	0.16440	0.4363:0.2835:0.0:0.2802	.	29	P60328	KR123_HUMAN	C	43;29	ENSP00000381005:S29C	ENSP00000381005:S29C	S	+	1	0	KRTAP12-3	44902409	0.136000	0.22515	0.038000	0.18304	0.830000	0.47004	0.112000	0.15479	-0.730000	0.04869	0.377000	0.23210	AGC		0.677	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			14	89	0	0	0	1	0	14	89				
STRADB	55437	broad.mit.edu	37	2	202343179	202343179	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:202343179G>C	ENST00000194530.3	+	10	1290	c.925G>C	c.(925-927)Gac>Cac	p.D309H	STRADB_ENST00000392249.2_Missense_Mutation_p.D309H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GTCAGGTGTAGACTCTGGGAT	0.428																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(925-927)Gac>Cac		STE20-related kinase adaptor beta							73.0	71.0	72.0					2																	202343179		2203	4300	6503	SO:0001583	missense	55437				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|protein binding|protein kinase activity	g.chr2:202343179G>C	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.925G>C	2.37:g.202343179G>C	ENSP00000194530:p.Asp309His					STRADB_ENST00000392249.2_Missense_Mutation_p.D309H	p.D309H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			10	1290	+			309			Protein kinase.		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.925G>C	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309663	0.81247	.	.	ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866	T;T	0.62941	-0.01;-0.0	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85820	0.1385	10	0.72032	D	0.01	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	309	Q9C0K7	STRAB_HUMAN	H	309;309;309;171	ENSP00000194530:D309H;ENSP00000376080:D309H	ENSP00000194530:D309H	D	+	1	0	STRADB	202051424	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.117000	0.94347	2.690000	0.91761	0.655000	0.94253	GAC		0.428	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		4	70	0	0	0	1	0	4	70				
NXF2B	728343	broad.mit.edu	37	X	101623790	101623790	+	Splice_Site	SNP	T	T	C			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:101623790T>C	ENST00000372750.1	-	12	1373		c.e12-2		NXF2B_ENST00000457521.2_Splice_Site|NXF2B_ENST00000372749.1_Splice_Site|NXF2B_ENST00000372752.1_Splice_Site|NXF2B_ENST00000412230.2_Splice_Site			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B						mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TATACATATCTGCAGGAAGGC	0.493																																						ENST00000457521.2																			0				breast(1)|kidney(1)|lung(4)|ovary(1)	7						c.e19-2		nuclear RNA export factor 2B							102.0	89.0	93.0					X																	101623790		2202	4280	6482	SO:0001630	splice_region_variant	728343							g.chrX:101623790T>C		CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.574-2A>G	X.37:g.101623790T>C						NXF2B_ENST00000372752.1_Splice_Site|NXF2B_ENST00000412230.2_Splice_Site|NXF2B_ENST00000372749.1_Splice_Site|NXF2B_ENST00000372750.1_Splice_Site								19	2445	-								Q9BXU4|Q9NSS1|Q9NX66	Splice_Site	SNP	ENST00000372750.1	37		CCDS43979.1	.	.	.	.	.	.	.	.	.	.	.	11.99	1.805107	0.31961	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4686	0.27336	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF2B	101510446	1.000000	0.71417	0.100000	0.21137	0.076000	0.17211	5.485000	0.66850	1.575000	0.49775	0.308000	0.20428	.		0.493	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1		Intron	4	39	0	0	0	1	0	4	39				
PIGC	5279	broad.mit.edu	37	1	172411741	172411742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:172411741_172411742insA	ENST00000367728.1	-	1	1484_1485	c.21_22insT	c.(19-24)actaacfs	p.N8fs	PIGC_ENST00000258324.1_Frame_Shift_Ins_p.N8fs|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.N8fs			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	8					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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TCCTTGGTGTTAGTCACAGGTT	0.455																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(19-24)acacacfs		phosphatidylinositol glycan anchor biosynthesis, class C																																				SO:0001589	frameshift_variant	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411741_172411742insA	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.22dupT	1.37:g.172411742_172411742dupA	ENSP00000356702:p.Asn8fs					PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.H8fs|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.H8fs	p.H8fs			Q92535	PIGC_HUMAN			1	1484_1485	-			8					O14491	Frame_Shift_Ins	INS	ENST00000367728.1	37	c.21_22insT	CCDS1302.1																																																																																				0.455	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		7	144						7	144	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139915366	139915366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:139915366delG	ENST00000371605.3	-	8	1189	c.1042delC	c.(1042-1044)cagfs	p.Q348fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.Q349fs|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Frame_Shift_Del_p.Q349fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	348					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGGCACCCTGGGGCAGTAGC	0.711																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1045-1047)agfs		ATP-binding cassette, sub-family A (ABC1), member 2							4.0	6.0	5.0					9																	139915366		1810	3940	5750	SO:0001589	frameshift_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139915366delG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1042delC	9.37:g.139915366delG	ENSP00000360666:p.Gln348fs					ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Frame_Shift_Del_p.Q348fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.Q349fs	p.Q349fs			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	9	1192	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	348					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Frame_Shift_Del	DEL	ENST00000371605.3	37	c.1045delC																																																																																					0.711	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		2	4						2	4	---	---	---	---
CKAP2P1	100420763	broad.mit.edu	37	14	21580890	21580890	+	lincRNA	DEL	T	T	-			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:21580890delT	ENST00000320322.2	+	0	117				RNU6-252P_ENST00000363232.1_RNA																							GCTCTGTTGCTTTAGGAATAG	0.373																																						ENST00000320322.2																			0																																																			100420763							g.chr14:21580890delT																													14.37:g.21580890delT														0	117	+									RNA	DEL	ENST00000320322.2	37																																																																																						0.373	RP11-998D10.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413149.1			2	4						2	4	---	---	---	---
