#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
PRICKLE2	166336	broad.mit.edu	37	3	64085137	64085137	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:64085137A>C	ENST00000295902.6	-	8	2710	c.2125T>G	c.(2125-2127)Tcc>Gcc	p.S709A	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S765A|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	709	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTAACCGGGAGATGGCCTCG	0.637																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2125-2127)Tcc>Gcc		prickle homolog 2 (Drosophila)							45.0	49.0	48.0					3																	64085137		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085137A>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2125T>G	3.37:g.64085137A>C	ENSP00000295902:p.Ser709Ala					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S765A|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	p.S709A	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2710	-		Lung NSC(201;0.136)	709			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2125T>G	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.321955	0.23994	.	.	ENSG00000163637	ENST00000295902	T	0.58506	0.33	5.33	2.83	0.33086	.	0.533030	0.19530	N	0.112070	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.09084	T	0.74	-5.4315	11.052	0.47896	0.6898:0.3102:0.0:0.0	.	709	Q7Z3G6	PRIC2_HUMAN	A	709	ENSP00000295902:S709A	ENSP00000295902:S709A	S	-	1	0	PRICKLE2	64060177	0.000000	0.05858	0.003000	0.11579	0.996000	0.88848	0.954000	0.29175	0.376000	0.24707	0.482000	0.46254	TCC		0.637	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		15	33	0	0	0	1	0	15	33				
RABL6	55684	broad.mit.edu	37	9	139726231	139726231	+	Missense_Mutation	SNP	G	G	A	rs374394708		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:139726231G>A	ENST00000311502.7	+	6	753	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	RABL6_ENST00000371675.3_Missense_Mutation_p.V58M|RABL6_ENST00000371671.4_Missense_Mutation_p.V173M|RABL6_ENST00000432842.2_Missense_Mutation_p.V135M|MIR4292_ENST00000585012.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371663.4_Missense_Mutation_p.V173M|RABL6_ENST00000357466.2_Missense_Mutation_p.V173M|RABL6_ENST00000466096.1_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	173	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GCCAGTGTGCGTGCTGGGAAA	0.607																																						ENST00000371675.3																			0											c.(172-174)Gtg>Atg		RAB, member RAS oncogene family-like 6		G	MET/VAL,MET/VAL,MET/VAL	0,4184		0,0,2092	59.0	64.0	63.0		517,517,517	4.3	1.0	9		63	1,8419		0,1,4209	no	missense,missense,missense	C9orf86	NM_001173988.1,NM_001173989.1,NM_024718.4	21,21,21	0,1,6301	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	173/731,173/315,173/730	139726231	1,12603	2092	4210	6302	SO:0001583	missense	55684							g.chr9:139726231G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.517G>A	9.37:g.139726231G>A	ENSP00000311134:p.Val173Met					RABL6_ENST00000357466.2_Missense_Mutation_p.V173M|RABL6_ENST00000371663.4_Missense_Mutation_p.V173M|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.V135M|RABL6_ENST00000371671.4_Missense_Mutation_p.V173M|RABL6_ENST00000311502.7_Missense_Mutation_p.V173M	p.V58M							6	1057	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.172G>A	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.361943|4.361943	0.82353|0.82353	0.0|0.0	1.19E-4|1.19E-4	ENSG00000196642|ENSG00000196642	ENST00000436380;ENST00000425121|ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675	.|T;T;T;T;T;T	.|0.76316	.|-0.66;-0.66;-0.66;-0.66;-0.66;-1.01	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Mitochondrial Rho-like (1);	.|0.000000	.|0.64402	.|U	.|0.000003	D|D	0.87838|0.87838	0.6278|0.6278	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.998;0.991;0.999;0.999;0.993	D|D	0.89882|0.89882	0.4031|0.4031	5|10	.|0.87932	.|D	.|0	-32.6633|-32.6633	16.1371|16.1371	0.81494|0.81494	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|173;173;173;173;173	.|A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.|.;.;.;PARF_HUMAN;.	H|M	129;83|173;173;173;173;173;135;58	.|ENSP00000360727:V173M;ENSP00000360736:V173M;ENSP00000311134:V173M;ENSP00000350056:V173M;ENSP00000414081:V135M;ENSP00000360740:V58M	.|ENSP00000311134:V173M	R|V	+|+	2|1	0|0	C9orf86|C9orf86	138846052|138846052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.729000|0.729000	0.41735|0.41735	9.207000|9.207000	0.95064|0.95064	2.113000|2.113000	0.64589|0.64589	0.305000|0.305000	0.20034|0.20034	CGT|GTG		0.607	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		18	29	0	0	0	1	0	18	29				
ADCYAP1	116	broad.mit.edu	37	18	908301	908301	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr18:908301G>A	ENST00000579794.1	+	3	556	c.278G>A	c.(277-279)cGc>cAc	p.R93H	RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R93H	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	93					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GAGGCCTACCGCAAAGTGCTG	0.647																																						ENST00000579794.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(277-279)cGc>cAc		adenylate cyclase activating polypeptide 1 (pituitary)							27.0	28.0	28.0					18																	908301		2202	4299	6501	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:908301G>A	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.278G>A	18.37:g.908301G>A	ENSP00000462647:p.Arg93His					ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R93H	p.R93H	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN			3	556	+			93					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.278G>A	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539356	0.96474	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	5.23	5.23	0.72850	Glucagon/GIP/secretin/VIP (2);	0.047373	0.85682	D	0.000000	D	0.84147	0.5408	M	0.85777	2.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86536	0.1825	9	0.66056	D	0.02	.	18.4206	0.90588	0.0:0.0:1.0:0.0	.	93	P18509	PACA_HUMAN	H	232;93;93	.	ENSP00000269200:R93H	R	+	2	0	ADCYAP1	898301	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.255000	0.78338	2.439000	0.82584	0.563000	0.77884	CGC		0.647	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		3	24	0	0	0	1	0	3	24				
ZDBF2	57683	broad.mit.edu	37	2	207175936	207175936	+	Silent	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:207175936G>A	ENST00000374423.3	+	5	7070	c.6684G>A	c.(6682-6684)tcG>tcA	p.S2228S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6682-6684)tcG>tcA		zinc finger, DBF-type containing 2							39.0	38.0	38.0					2																	207175936		1817	4076	5893	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207175936G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6684G>A	2.37:g.207175936G>A							p.S2228S	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	7070	+			2228					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.6684G>A	CCDS46501.1																																																																																				0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	20	0	0	0	1	0	8	20				
FBXL17	64839	broad.mit.edu	37	5	107356650	107356650	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr5:107356650C>T	ENST00000542267.1	-	7	2204	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M	FBXL17_ENST00000359660.5_Missense_Mutation_p.V202M|FBXL17_ENST00000496714.1_Missense_Mutation_p.V202M	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	600										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TTACAGGACACCAAATATAGC	0.313																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1798-1800)Gtg>Atg		F-box and leucine-rich repeat protein 17							107.0	109.0	108.0					5																	107356650		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107356650C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1798G>A	5.37:g.107356650C>T	ENSP00000437464:p.Val600Met					FBXL17_ENST00000496714.1_Missense_Mutation_p.V202M|FBXL17_ENST00000359660.5_Missense_Mutation_p.V202M	p.V600M	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	7	2204	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	600					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1798G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329836	0.81690	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02446	4.29;4.29;4.29	5.5	5.5	0.81552	.	0.257321	0.32401	N	0.006157	T	0.13457	0.0326	L	0.53249	1.67	0.42547	D	0.993092	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.00331	-1.1811	10	0.56958	D	0.05	.	19.3903	0.94578	0.0:1.0:0.0:0.0	.	600;202	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	M	202;600;202	ENSP00000352683:V202M;ENSP00000437464:V600M;ENSP00000418111:V202M	ENSP00000352683:V202M	V	-	1	0	FBXL17	107384549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.791000	0.75120	2.578000	0.87016	0.650000	0.86243	GTG		0.313	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	29	0	0	0	1	0	10	29				
TGFB2	7042	broad.mit.edu	37	1	218607454	218607454	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr1:218607454A>G	ENST00000366930.4	+	3	1008	c.541A>G	c.(541-543)Acc>Gcc	p.T181A	TGFB2_ENST00000366929.4_Missense_Mutation_p.T209A	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	181					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AACATCTCCAACCCAGCGCTA	0.433																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(625-627)Acc>Gcc		transforming growth factor, beta 2							195.0	200.0	198.0					1																	218607454		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218607454A>G	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.541A>G	1.37:g.218607454A>G	ENSP00000355897:p.Thr181Ala					TGFB2_ENST00000366930.4_Missense_Mutation_p.T181A	p.T209A	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	4	1092	+			181					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.625A>G	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882368	0.51908	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.64438	-0.1;-0.1	5.91	4.79	0.61399	Transforming growth factor-beta, N-terminal (1);	0.139680	0.64402	D	0.000005	T	0.52273	0.1724	L	0.43923	1.385	0.45528	D	0.998485	B;B	0.21225	0.053;0.008	B;B	0.28916	0.096;0.021	T	0.40739	-0.9547	10	0.16420	T	0.52	.	9.6325	0.39787	0.8493:0.0:0.1507:0.0	.	209;181	P61812-2;P61812	.;TGFB2_HUMAN	A	181;209	ENSP00000355897:T181A;ENSP00000355896:T209A	ENSP00000355896:T209A	T	+	1	0	TGFB2	216674077	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.825000	0.69286	1.061000	0.40601	0.533000	0.62120	ACC		0.433	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		5	109	0	0	0	1	0	5	109				
OR13C4	138804	broad.mit.edu	37	9	107288538	107288538	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:107288538T>A	ENST00000277216.3	-	1	952	c.953A>T	c.(952-954)cAg>cTg	p.Q318L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	318						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(2)|lung(14)|skin(1)	18						TTGATCTTACTGGTTAATAGC	0.373																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(952-954)cAg>cTg		olfactory receptor, family 13, subfamily C, member 4							68.0	76.0	73.0					9																	107288538		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288538T>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.953A>T	9.37:g.107288538T>A	ENSP00000277216:p.Gln318Leu						p.Q318L	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	952	-			318					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.953A>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655762	0.29425	.	.	ENSG00000148136	ENST00000277216	T	0.07908	3.15	3.94	3.94	0.45596	.	0.775102	0.10266	U	0.695403	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.29598	0.104	T	0.33085	-0.9882	10	0.72032	D	0.01	.	9.3771	0.38290	0.0:0.0:0.0:1.0	.	318	Q8NGS5	O13C4_HUMAN	L	318	ENSP00000277216:Q318L	ENSP00000277216:Q318L	Q	-	2	0	OR13C4	106328359	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.628000	0.24522	1.768000	0.52137	0.460000	0.39030	CAG		0.373	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			33	70	0	0	0	1	0	33	70				
GFI1B	8328	broad.mit.edu	37	9	135866331	135866331	+	Missense_Mutation	SNP	G	G	A	rs537470322		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:135866331G>A	ENST00000339463.3	+	11	1706	c.887G>A	c.(886-888)cGc>cAc	p.R296H	GFI1B_ENST00000372124.1_Missense_Mutation_p.R250H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R250H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R250H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R296H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R296H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	296	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACCCACAGCCGCAAGCACACA	0.627																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(886-888)cGc>cAc		growth factor independent 1B transcription repressor							96.0	79.0	85.0					9																	135866331		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866331G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.887G>A	9.37:g.135866331G>A	ENSP00000344782:p.Arg296His					GFI1B_ENST00000372123.1_Missense_Mutation_p.R250H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R296H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R296H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R250H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R250H	p.R296H			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1706	+			296			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.887G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338718	0.81911	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56288	-0.8004	10	0.51188	T	0.08	-44.5173	17.4238	0.87521	0.0:0.0:1.0:0.0	.	250;296	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	250;296;296;250;250;296	ENSP00000361197:R250H;ENSP00000344782:R296H;ENSP00000409546:R296H;ENSP00000446134:R250H;ENSP00000361196:R250H;ENSP00000361195:R296H	ENSP00000344782:R296H	R	+	2	0	GFI1B	134856152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.425000	0.82216	0.462000	0.41574	CGC		0.627	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		11	33	0	0	0	1	0	11	33				
FPR1	2357	broad.mit.edu	37	19	52249535	52249535	+	Missense_Mutation	SNP	C	C	T	rs368075541		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr19:52249535C>T	ENST00000595042.1	-	3	854	c.713G>A	c.(712-714)cGt>cAt	p.R238H	FPR1_ENST00000304748.4_Missense_Mutation_p.R238H	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	238				R -> P (in Ref. 1; AAA36362). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCGTAAGGGACGACTGGACTT	0.517																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(712-714)cGt>cAt		formyl peptide receptor 1	Nedocromil(DB00716)	C	HIS/ARG,HIS/ARG	1,4405		0,1,2202	89.0	80.0	83.0		713,713	2.5	0.3	19		83	1,8599		0,1,4299	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	238/351,238/351	52249535	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249535C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.713G>A	19.37:g.52249535C>T	ENSP00000471493:p.Arg238His					FPR1_ENST00000304748.4_Missense_Mutation_p.R238H	p.R238H	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	854	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	238	R -> P (in Ref. 1; AAA36362).				Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.713G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	13.56	2.274424	0.40194	2.27E-4	1.16E-4	ENSG00000171051	ENST00000304748	T	0.43688	0.94	3.58	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.079325	0.44483	D	0.000455	T	0.53270	0.1786	M	0.89715	3.055	0.34259	D	0.679721	D	0.53312	0.959	P	0.48982	0.597	T	0.67264	-0.5714	10	0.62326	D	0.03	.	6.2956	0.21085	0.0:0.7549:0.0:0.2451	.	238	P21462	FPR1_HUMAN	H	238	ENSP00000302707:R238H	ENSP00000302707:R238H	R	-	2	0	FPR1	56941347	0.872000	0.30054	0.289000	0.24876	0.138000	0.21146	1.844000	0.39269	0.780000	0.33566	0.603000	0.83216	CGT		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		9	28	0	0	0	1	0	9	28				
MKI67	4288	broad.mit.edu	37	10	129913572	129913572	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr10:129913572T>C	ENST00000368654.3	-	7	1475	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	367					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACCAGTAGTATACAGGTCTTT	0.418																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1099-1101)tAt>tGt		marker of proliferation Ki-67							114.0	120.0	118.0					10																	129913572		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913572T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1100A>G	10.37:g.129913572T>C	ENSP00000357643:p.Tyr367Cys					MKI67_ENST00000368653.3_Intron	p.Y367C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1475	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	367					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1100A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657050	0.29425	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01258	5.09	3.59	-3.25	0.05079	.	3.093420	0.01044	N	0.004354	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.49062	-0.8978	10	0.87932	D	0	.	5.3582	0.16073	0.0:0.309:0.1556:0.5354	.	367	P46013	KI67_HUMAN	C	367	ENSP00000357643:Y367C	ENSP00000357643:Y367C	Y	-	2	0	MKI67	129803562	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.916000	0.04029	-0.759000	0.04684	-0.250000	0.11733	TAT		0.418	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		46	83	0	0	0	1	0	46	83				
KIRREL	55243	broad.mit.edu	37	1	158064789	158064789	+	Missense_Mutation	SNP	G	G	A	rs372675836		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr1:158064789G>A	ENST00000359209.6	+	15	2220	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	KIRREL_ENST00000360089.4_Missense_Mutation_p.R554Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R734Q|KIRREL_ENST00000368172.1_Missense_Mutation_p.R532Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R618Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R615Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	718					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R554Q(1)|p.R734Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGCCTGGAGCGGACCCCATAT	0.617																																						ENST00000368172.1																			2	Substitution - Missense(2)	p.R554Q(1)|p.R734Q(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1594-1596)cGg>cAg		kin of IRRE like (Drosophila)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	40.0	39.0	39.0		2153	4.5	1.0	1		39	0,8600		0,0,4300	no	missense	KIRREL	NM_018240.5	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	718/758	158064789	1,13005	2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064789G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2153G>A	1.37:g.158064789G>A	ENSP00000352138:p.Arg718Gln					KIRREL_ENST00000368173.3_Missense_Mutation_p.R734Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R554Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R615Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.R718Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R618Q	p.R532Q			Q96J84	KIRR1_HUMAN			11	1607	+	all_hematologic(112;0.0378)		718					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1595G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342127	0.61073	2.27E-4	0.0	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.68181	0.63;-0.31;0.31;0.06;0.14;0.49	4.47	4.47	0.54385	.	0.000000	0.40064	N	0.001197	T	0.33206	0.0855	N	0.24115	0.695	0.49798	D	0.99982	P;P;P;P	0.49961	0.93;0.93;0.839;0.93	B;B;B;B	0.32465	0.146;0.146;0.103;0.146	T	0.38650	-0.9651	10	0.38643	T	0.18	-22.8301	14.6803	0.69012	0.0:0.0:1.0:0.0	.	618;554;532;718	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	Q	554;734;615;718;618;532	ENSP00000353202:R554Q;ENSP00000357155:R734Q;ENSP00000376098:R615Q;ENSP00000352138:R718Q;ENSP00000389674:R618Q;ENSP00000357154:R532Q	ENSP00000352138:R718Q	R	+	2	0	KIRREL	156331413	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.221000	0.58574	2.319000	0.78375	0.561000	0.74099	CGG		0.617	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		4	13	0	0	0	1	0	4	13				
SERPINB8	5271	broad.mit.edu	37	18	61654457	61654457	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr18:61654457T>G	ENST00000397985.2	+	7	1326	c.1070T>G	c.(1069-1071)aTc>aGc	p.I357S	SERPINB8_ENST00000353706.2_Missense_Mutation_p.I357S|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.I175S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	357					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTTCTTCATCAGGCACCAC	0.507																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(1069-1071)aTc>aGc		serpin peptidase inhibitor, clade B (ovalbumin), member 8							99.0	98.0	99.0					18																	61654457		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654457T>G	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1070T>G	18.37:g.61654457T>G	ENSP00000381072:p.Ile357Ser					SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.I357S|SERPINB8_ENST00000542677.1_Missense_Mutation_p.I175S	p.I357S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1326	+		Esophageal squamous(42;0.129)	357					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.1070T>G	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053353	0.75960	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.88975	-2.45;-2.45;1.95	5.65	5.65	0.86999	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98604	1.0660	10	0.87932	D	0	.	15.2098	0.73214	0.0:0.0:0.0:1.0	.	357	P50452	SPB8_HUMAN	S	357;357;175	ENSP00000381072:I357S;ENSP00000331368:I357S;ENSP00000438328:I175S	ENSP00000331368:I357S	I	+	2	0	SERPINB8	59805437	1.000000	0.71417	0.948000	0.38648	0.511000	0.34104	7.789000	0.85783	2.371000	0.80710	0.533000	0.62120	ATC		0.507	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		38	38	0	0	0	1	0	38	38				
ZSCAN21	7589	broad.mit.edu	37	7	99661891	99661891	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr7:99661891C>T	ENST00000292450.4	+	4	1237	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R324C|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R324C|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	358					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACAGAAGAGGCGCCATATCAG	0.498																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1072-1074)gCg>gTg		zinc finger and SCAN domain containing 21							67.0	67.0	67.0					7																	99661891		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661891C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1073C>T	7.37:g.99661891C>T	ENSP00000292450:p.Ala358Val					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R324C|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R324C	p.A358V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1237	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		358					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1073C>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.527952|3.527952	0.64860|0.64860	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.18016|0.02301	2.24|4.35;4.35	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.01940|0.01940	0.0061|0.0061	N|N	0.12502|0.12502	0.225|0.225	0.80722|0.80722	D|D	1|1	D|P	0.67145|0.49447	0.996|0.924	P|B	0.58130|0.43123	0.833|0.409	T|T	0.64508|0.64508	-0.6391|-0.6391	10|9	0.87932|0.66056	D|D	0|0.02	.|.	10.2257|10.2257	0.43225|0.43225	0.1979:0.8021:0.0:0.0|0.1979:0.8021:0.0:0.0	.|.	358|324	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	V|C	358;333|324	ENSP00000292450:A358V|ENSP00000441212:R324C;ENSP00000390960:R324C	ENSP00000292450:A358V|ENSP00000390960:R324C	A|R	+|+	2|1	0|0	ZSCAN21|ZSCAN21	99499827|99499827	0.002000|0.002000	0.14202|0.14202	0.953000|0.953000	0.39169|0.39169	0.426000|0.426000	0.31534|0.31534	1.135000|1.135000	0.31454|0.31454	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.498	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		25	26	0	0	0	1	0	25	26				
ARPP21	10777	broad.mit.edu	37	3	35763243	35763243	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:35763243C>T	ENST00000187397.4	+	14	1598	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	ARPP21_ENST00000337271.5_Missense_Mutation_p.T327M|ARPP21_ENST00000417925.1_Missense_Mutation_p.T347M|ARPP21_ENST00000458225.1_Missense_Mutation_p.T347M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T327M	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	381	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGACCAAGACGGCGAGTTTT	0.542																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1141-1143)aCg>aTg		cAMP-regulated phosphoprotein, 21kDa							49.0	41.0	43.0					3																	35763243		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35763243C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1142C>T	3.37:g.35763243C>T	ENSP00000187397:p.Thr381Met					ARPP21_ENST00000458225.1_Missense_Mutation_p.T347M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T327M|ARPP21_ENST00000417925.1_Missense_Mutation_p.T347M|ARPP21_ENST00000337271.5_Missense_Mutation_p.T327M	p.T381M	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			14	1598	+			381			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1142C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223659	0.95139	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.24723	1.87;1.88;1.88;1.84;1.87	5.75	5.75	0.90469	.	0.180265	0.49305	D	0.000150	T	0.48677	0.1513	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.989;0.995	T	0.38499	-0.9658	10	0.66056	D	0.02	-14.1888	19.9522	0.97203	0.0:1.0:0.0:0.0	.	347;381;327	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	M	347;327;327;381;347	ENSP00000414351:T347M;ENSP00000337792:T327M;ENSP00000405276:T327M;ENSP00000187397:T381M;ENSP00000412326:T347M	ENSP00000187397:T381M	T	+	2	0	ARPP21	35738247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.725000	0.93324	0.655000	0.94253	ACG		0.542	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		12	24	0	0	0	1	0	12	24				
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs189049364		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	230								p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.S230C(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.(688-690)tCt>tGt		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132905792G>C			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.689C>G	2.37:g.132905792G>C	ENSP00000386398:p.Ser230Cys					ANKRD30BL_ENST00000470729.1_5'UTR	p.S230C							6	938	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.689C>G		.	.	.	.	.	.	.	.	.	.	.	8.999	0.979581	0.18812	.	.	ENSG00000163046	ENST00000409867	T	0.38560	1.13	0.109	0.109	0.14578	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	5	0.35671	T	0.21	.	.	.	.	.	.	.	.	C	230	ENSP00000386398:S230C	ENSP00000386398:S230C	S	-	2	0	ANKRD30BL	132622262	0.200000	0.23398	0.088000	0.20740	0.105000	0.19272	0.320000	0.19540	0.181000	0.19994	0.184000	0.17185	TCT		0.443	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		3	13	0	0	0	1	0	3	13				
TTN	7273	broad.mit.edu	37	2	179489271	179489271	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:179489271A>T	ENST00000591111.1	-	192	40037	c.39813T>A	c.(39811-39813)caT>caA	p.H13271Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H6039Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5972Q|TTN_ENST00000460472.2_Missense_Mutation_p.H5847Q|TTN_ENST00000589042.1_Missense_Mutation_p.H14912Q|TTN_ENST00000342992.6_Missense_Mutation_p.H12344Q			Q8WZ42	TITIN_HUMAN	titin	13271	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTACAGTCATGTATAACAA	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44734-44736)caT>caA		titin							127.0	126.0	126.0					2																	179489271		1888	4101	5989	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489271A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39813T>A	2.37:g.179489271A>T	ENSP00000465570:p.His13271Gln					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5972Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12344Q|TTN_ENST00000342175.6_Missense_Mutation_p.H6039Q|TTN_ENST00000460472.2_Missense_Mutation_p.H5847Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13271Q	p.H14912Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	44960	-			13271			Fibronectin type-III 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44736T>A		.	.	.	.	.	.	.	.	.	.	A	9.286	1.049350	0.19827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.06	-8.66	0.00866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58637	0.2136	L	0.33137	0.985	0.30151	N	0.803063	P;P;P;P	0.50369	0.934;0.934;0.934;0.934	P;P;P;P	0.52909	0.713;0.713;0.713;0.713	T	0.70547	-0.4842	9	0.87932	D	0	.	15.8972	0.79344	0.4753:0.0:0.5247:0.0	.	5847;5972;6039;13271	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12344;5847;6039;5972;5847	ENSP00000343764:H12344Q;ENSP00000434586:H5847Q;ENSP00000340554:H6039Q;ENSP00000352154:H5972Q	ENSP00000340554:H6039Q	H	-	3	2	TTN	179197516	0.002000	0.14202	0.279000	0.24732	0.359000	0.29487	-0.948000	0.03897	-1.930000	0.01056	-2.896000	0.00094	CAT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	49	0	0	0	1	0	24	49				
TAF1L	138474	broad.mit.edu	37	9	32633777	32633777	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:32633777C>T	ENST00000242310.4	-	1	1890	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	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	601					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)		CCAAAGGTGCCCCGAAGACCC	0.488																																						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.(1801-1803)Ggc>Agc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							151.0	159.0	156.0					9																	32633777		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.chr9:32633777C>T	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.1801G>A	9.37:g.32633777C>T	ENSP00000418379:p.Gly601Ser					RP11-555J4.4_ENST00000430787.1_RNA	p.G601S	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1890	-			601					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1801G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.688985	0.14973	.	.	ENSG00000122728	ENST00000242310	T	0.11930	2.73	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	N	0.05124	-0.11	0.43830	D	0.9964	B	0.28470	0.213	B	0.37989	0.262	T	0.32798	-0.9893	10	0.07990	T	0.79	.	3.4488	0.07490	0.449:0.5509:1.0E-4:1.0E-4	.	601	Q8IZX4	TAF1L_HUMAN	S	601	ENSP00000418379:G601S	ENSP00000418379:G601S	G	-	1	0	TAF1L	32623777	0.999000	0.42202	0.864000	0.33941	0.204000	0.24138	4.948000	0.63590	0.507000	0.28148	0.195000	0.17529	GGC		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	151	0	0	0	1	0	6	151				
TIMM22	29928	broad.mit.edu	37	17	900393	900393	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:900393C>G	ENST00000327158.4	+	1	37	c.11C>G	c.(10-12)gCc>gGc	p.A4G		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	4					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATGGCGGCGGCCGCCCCCAAT	0.667																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(10-12)gCc>gGc		translocase of inner mitochondrial membrane 22 homolog (yeast)							9.0	12.0	11.0					17																	900393		2063	4145	6208	SO:0001583	missense	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:900393C>G	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.11C>G	17.37:g.900393C>G	ENSP00000320236:p.Ala4Gly						p.A4G	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	37	+			4					Q9NWI8	Missense_Mutation	SNP	ENST00000327158.4	37	c.11C>G	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901241	0.72754	.	.	ENSG00000177370	ENST00000327158	T	0.47177	0.85	5.33	3.14	0.36123	.	0.662303	0.16350	N	0.218248	T	0.20941	0.0504	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.27785	T	0.31	-2.1998	10.7666	0.46297	0.1476:0.71:0.1424:0.0	.	4	Q9Y584	TIM22_HUMAN	G	4	ENSP00000320236:A4G	ENSP00000320236:A4G	A	+	2	0	TIMM22	847143	0.005000	0.15991	0.003000	0.11579	0.529000	0.34654	2.166000	0.42406	1.170000	0.42753	0.485000	0.47835	GCC		0.667	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		8	8	0	0	0	1	0	8	8				
MYH15	22989	broad.mit.edu	37	3	108211370	108211370	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:108211370A>G	ENST00000273353.3	-	10	964	c.908T>C	c.(907-909)cTa>cCa	p.L303P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	303	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGTCCAGATAGAATTTGATA	0.368																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(907-909)cTa>cCa		myosin, heavy chain 15							100.0	92.0	95.0					3																	108211370		1821	4084	5905	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211370A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.908T>C	3.37:g.108211370A>G	ENSP00000273353:p.Leu303Pro						p.L303P	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			10	964	-			303			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.908T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822050	0.50739	.	.	ENSG00000144821	ENST00000273353	D	0.91996	-2.95	4.89	2.41	0.29592	Myosin head, motor domain (2);	.	.	.	.	D	0.97040	0.9033	H	0.97214	3.96	0.27084	N	0.963017	D	0.67145	0.996	D	0.73708	0.981	D	0.90647	0.4579	9	0.87932	D	0	.	9.3002	0.37840	0.8507:0.0:0.1493:0.0	.	303	Q9Y2K3	MYH15_HUMAN	P	303	ENSP00000273353:L303P	ENSP00000273353:L303P	L	-	2	0	MYH15	109694060	1.000000	0.71417	0.834000	0.33040	0.800000	0.45204	6.870000	0.75526	0.734000	0.32515	0.528000	0.53228	CTA		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		16	9	0	0	0	1	0	16	9				
MAMLD1	10046	broad.mit.edu	37	X	149639651	149639651	+	Silent	SNP	A	A	G			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1804-1806)caA>caG		mastermind-like domain containing 1							77.0	68.0	71.0					X																	149639651		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639651A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G						MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q	p.Q602Q			Q13495	MAMD1_HUMAN			4	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1806A>G	CCDS14693.2																																																																																				0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		3	47	0	0	0	1	0	3	47				
KIF5A	3798	broad.mit.edu	37	12	57957910	57957910	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr12:57957910A>T	ENST00000455537.2	+	4	585	c.311A>T	c.(310-312)cAg>cTg	p.Q104L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	104	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACGACCCTCAGCTGATGGGA	0.512																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(310-312)cAg>cTg		kinesin family member 5A							94.0	79.0	84.0					12																	57957910		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957910A>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.311A>T	12.37:g.57957910A>T	ENSP00000408979:p.Gln104Leu					KIF5A_ENST00000286452.5_Intron	p.Q104L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			4	585	+			104			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.311A>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530608	0.64860	.	.	ENSG00000155980	ENST00000455537	T	0.73152	-0.72	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.058613	0.64402	D	0.000001	T	0.65491	0.2696	L	0.47716	1.5	0.80722	D	1	B	0.12013	0.005	B	0.21360	0.034	T	0.65257	-0.6212	10	0.66056	D	0.02	.	13.9074	0.63845	1.0:0.0:0.0:0.0	.	104	Q12840	KIF5A_HUMAN	L	104	ENSP00000408979:Q104L	ENSP00000408979:Q104L	Q	+	2	0	KIF5A	56244177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.928000	0.92853	2.174000	0.68829	0.533000	0.62120	CAG		0.512	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		11	32	0	0	0	1	0	11	32				
TLR4	7099	broad.mit.edu	37	9	120474795	120474795	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:120474795A>C	ENST00000355622.6	+	3	490	c.389A>C	c.(388-390)aAg>aCg	p.K130T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.K90T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	130					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGTTTACAGAAGCTGGTGGCT	0.438																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(388-390)aAg>aCg		toll-like receptor 4							75.0	77.0	76.0					9																	120474795		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474795A>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.389A>C	9.37:g.120474795A>C	ENSP00000363089:p.Lys130Thr					TLR4_ENST00000394487.4_Missense_Mutation_p.K90T|TLR4_ENST00000472304.1_3'UTR	p.K130T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	490	+			130					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.389A>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487800	0.44249	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.58210	0.35;5.55	5.08	3.97	0.46021	.	0.365080	0.26282	N	0.025278	T	0.32793	0.0841	N	0.04373	-0.215	0.34936	D	0.749786	P	0.35383	0.498	B	0.39152	0.292	T	0.46652	-0.9176	10	0.38643	T	0.18	.	11.8611	0.52467	0.8368:0.1632:0.0:0.0	.	130	O00206	TLR4_HUMAN	T	90;130	ENSP00000377997:K90T;ENSP00000363089:K130T	ENSP00000363089:K130T	K	+	2	0	TLR4	119514616	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	1.553000	0.36255	0.829000	0.34733	0.533000	0.62120	AAG		0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	55	0	0	0	1	0	20	55				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		38	70	0	0	0	1	0	38	70				
ABCD3	5825	broad.mit.edu	37	1	94946040	94946040	+	Silent	SNP	C	C	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr1:94946040C>A	ENST00000370214.4	+	9	729	c.705C>A	c.(703-705)gcC>gcA	p.A235A	ABCD3_ENST00000394233.2_Silent_p.A235A|ABCD3_ENST00000536817.1_Silent_p.A162A|ABCD3_ENST00000454898.2_Silent_p.A259A	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	235	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GCATGATGGCCTACTTGGTTG	0.363																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(703-705)gcC>gcA		ATP-binding cassette, sub-family D (ALD), member 3							115.0	111.0	112.0					1																	94946040		2203	4300	6503	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94946040C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.705C>A	1.37:g.94946040C>A						ABCD3_ENST00000454898.2_Silent_p.A259A|ABCD3_ENST00000536817.1_Silent_p.A162A|ABCD3_ENST00000394233.2_Silent_p.A235A	p.A235A	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	9	729	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	235			ABC transmembrane type-1.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.705C>A	CCDS749.1																																																																																				0.363	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		31	52	1	0	8.4185e-14	1	8.77674e-14	31	52				
ZNF208	7757	broad.mit.edu	37	19	22154452	22154452	+	Silent	SNP	A	A	G			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.L1000L(2)|p.L1128L(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3382-3384)ctT>ctC		zinc finger protein 208							57.0	61.0	60.0					19																	22154452		2123	4245	6368	SO:0001819	synonymous_variant	7757							g.chr19:22154452A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3384T>C	19.37:g.22154452A>G						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.L1128L	NM_007153.3	NP_009084.2					4	3532	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.3384T>C	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	58	0	0	0	1	0	3	58				
ASAP2	8853	broad.mit.edu	37	2	9475308	9475308	+	Splice_Site	SNP	G	G	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:9475308G>C	ENST00000281419.3	+	9	1189	c.849G>C	c.(847-849)gaG>gaC	p.E283D	ASAP2_ENST00000315273.4_Splice_Site_p.E283D	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	283					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AACAGAAAGAGGTGAGGGGAT	0.413																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.e9+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							89.0	92.0	91.0					2																	9475308		2203	4300	6503	SO:0001630	splice_region_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9475308G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.849+1G>C	2.37:g.9475308G>C						ASAP2_ENST00000315273.4_Splice_Site_p.E283_splice	p.E283_splice	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			9	1189	+			283					D6W4Y8	Splice_Site	SNP	ENST00000281419.3	37	c.849_splice	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744470	0.89663	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57907	0.37;0.37	5.35	5.35	0.76521	.	0.095764	0.64402	D	0.000001	T	0.65165	0.2665	L	0.44542	1.39	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.913;0.97	T	0.56601	-0.7952	10	0.22706	T	0.39	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	283;283	O43150-2;O43150	.;ASAP2_HUMAN	D	283	ENSP00000281419:E283D;ENSP00000316404:E283D	ENSP00000281419:E283D	E	+	3	2	ASAP2	9392759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.975000	0.93437	2.784000	0.95788	0.638000	0.83543	GAG		0.413	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	Missense_Mutation	5	43	0	0	0	1	0	5	43				
PCDHA13	56136	broad.mit.edu	37	5	140263149	140263149	+	Silent	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr5:140263149G>A	ENST00000289272.2	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S432S|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1294-1296)tcG>tcA									82.0	88.0	86.0					5																	140263149		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140263149G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1296G>A	5.37:g.140263149G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S432S|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.S432S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1296	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1296G>A	CCDS4240.1																																																																																				0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	137	0	0	0	1	0	5	137				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	108	0	0	0	1	0	4	108				
EMILIN1	11117	broad.mit.edu	37	2	27305360	27305360	+	Silent	SNP	C	C	T	rs369625702		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:27305360C>T	ENST00000380320.4	+	4	1420	c.921C>T	c.(919-921)gcC>gcT	p.A307A		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	307					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCTGGCCGGGCTAGATG	0.721													C|||	1	0.000199681	0.0	0.0	5008	,	,		14727	0.0		0.001	False		,,,				2504	0.0					ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(919-921)gcC>gcT		elastin microfibril interfacer 1		C		0,4076		0,0,2038	5.0	7.0	6.0		921	-8.0	0.7	2		6	8,8110		0,8,4051	no	coding-synonymous	EMILIN1	NM_007046.3		0,8,6089	TT,TC,CC		0.0985,0.0,0.0656		307/1017	27305360	8,12186	2038	4059	6097	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27305360C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.921C>T	2.37:g.27305360C>T							p.A307A	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	1420	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		307					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.921C>T	CCDS1733.1																																																																																				0.721	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		4	3	0	0	0	1	0	4	3				
PCDH10	57575	broad.mit.edu	37	4	134073250	134073250	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr4:134073250G>A	ENST00000264360.5	+	1	2781	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACCCCCAGCGGCCTTATGAG	0.677																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1954-1956)cGg>cAg		protocadherin 10							21.0	25.0	23.0					4																	134073250		2188	4285	6473	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073250G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1955G>A	4.37:g.134073250G>A	ENSP00000264360:p.Arg652Gln						p.R652Q	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2781	+			652			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1955G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260709	0.23051	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51325	0.71	4.16	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.000000	0.39759	N	0.001264	T	0.24198	0.0586	N	0.10664	0.02	0.42677	D	0.99353	B;B	0.26363	0.147;0.147	B;B	0.17979	0.018;0.02	T	0.16988	-1.0384	10	0.02654	T	1	.	16.2467	0.82448	0.0:0.0:1.0:0.0	.	652;652	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Q	652	ENSP00000264360:R652Q	ENSP00000264360:R652Q	R	+	2	0	PCDH10	134292700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.708000	0.54845	2.137000	0.66172	0.563000	0.77884	CGG		0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	11	0	0	0	1	0	6	11				
DCXR	51181	broad.mit.edu	37	17	79995534	79995534	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:79995534G>A	ENST00000306869.2	-	1	74	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	DCXR_ENST00000584318.1_5'Flank|RP13-650J16.1_ENST00000582558.1_RNA|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	9					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ACCAGCACCCGGCGGCCCGCG	0.746																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(25-27)Cgg>Tgg		dicarbonyl/L-xylulose reductase							5.0	6.0	6.0					17																	79995534		1980	3986	5966	SO:0001583	missense	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79995534G>A	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.25C>T	17.37:g.79995534G>A	ENSP00000303356:p.Arg9Trp						p.R9W	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		1	74	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		9					Q9BTZ3|Q9UHY9	Missense_Mutation	SNP	ENST00000306869.2	37	c.25C>T	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553402	0.27739	.	.	ENSG00000169738	ENST00000306869	T	0.23147	1.92	3.85	2.84	0.33178	NAD(P)-binding domain (1);	0.167949	0.40728	N	0.001030	T	0.40522	0.1120	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.10520	-1.0626	9	.	.	.	.	12.5414	0.56172	0.0:0.0:0.8321:0.1679	.	9	Q7Z4W1	DCXR_HUMAN	W	9	ENSP00000303356:R9W	.	R	-	1	2	DCXR	77588823	0.970000	0.33590	0.643000	0.29450	0.245000	0.25701	1.759000	0.38420	0.774000	0.33427	0.491000	0.48974	CGG		0.746	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			4	8	0	0	0	1	0	4	8				
RPL29	6159	broad.mit.edu	37	3	52027888	52027888	+	Silent	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:52027888G>A	ENST00000466397.1	-	4	497	c.357C>T	c.(355-357)tgC>tgT	p.C119C	RPL29_ENST00000294189.6_Silent_p.C119C|RPL29_ENST00000479017.1_Silent_p.C119C|RPL29_ENST00000475248.1_Silent_p.C119C|RPL29_ENST00000495383.1_Silent_p.C119C			P47914	RL29_HUMAN	ribosomal protein L29	119					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cctttggccGGCACAGCCTGA	0.622																																						ENST00000466397.1																			0				lung(1)	1						c.(355-357)tgC>tgT		ribosomal protein L29							26.0	31.0	30.0					3																	52027888		1854	3590	5444	SO:0001819	synonymous_variant	6159				embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome	g.chr3:52027888G>A	U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"""L ribosomal proteins"""	10331	protein-coding gene	gene with protein product	"""60S ribosomal protein L29"", ""heparin/heparan sulfate-interacting protein"", ""HP/HS-interacting protein"", ""heparin/heparan sulfate-binding protein"", ""cell surface heparin-binding protein HIP"""	601832	"""ribosomal protein L29 pseudogene 10"""	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.357C>T	3.37:g.52027888G>A						RPL29_ENST00000479017.1_Silent_p.C119C|RPL29_ENST00000475248.1_Silent_p.C119C|RPL29_ENST00000294189.6_Silent_p.C119C|RPL29_ENST00000495383.1_Silent_p.C119C	p.C119C			P47914	RL29_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	497	-			119					A8K0H3|B2R4M8|Q6IPY3	Silent	SNP	ENST00000466397.1	37	c.357C>T	CCDS2845.1																																																																																				0.622	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		3	37	0	0	0	1	0	3	37				
IER3	8870	broad.mit.edu	37	6	30708568	30708568	+	IGR	SNP	T	T	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr6:30708568T>C	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.Y73C|FLOT1_ENST00000376389.3_Missense_Mutation_p.Y121C|FLOT1_ENST00000470643.1_5'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CCTGTCCTTATAGATCTCCTG	0.438																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(361-363)tAt>tGt		flotillin 1							143.0	139.0	140.0					6																	30708568		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708568T>C	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708568T>C						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.Y73C	p.Y121C	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			6	582	-			121					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.362A>G	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602873	0.46423	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000445853;ENST00000416018;ENST00000454845	D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.07	5.07	0.68467	.	0.063664	0.64402	D	0.000004	D	0.95274	0.8467	M	0.93720	3.45	0.54753	D	0.999985	B;P	0.35401	0.452;0.499	B;B	0.44224	0.405;0.444	D	0.96285	0.9209	10	0.87932	D	0	-16.2983	9.0066	0.36115	0.0:0.0:0.1864:0.8136	.	73;121	B4DVY7;O75955	.;FLOT1_HUMAN	C	121;73;58;121;121;105;121	ENSP00000365569:Y121C;ENSP00000394375:Y73C;ENSP00000395333:Y58C;ENSP00000400615:Y121C;ENSP00000398834:Y121C;ENSP00000412058:Y105C;ENSP00000391341:Y121C	ENSP00000365569:Y121C	Y	-	2	0	FLOT1	30816547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.648000	0.83479	2.141000	0.66446	0.533000	0.62120	TAT		0.438	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			5	57	0	0	0	1	0	5	57				
NEO1	4756	broad.mit.edu	37	15	73528785	73528785	+	Silent	SNP	A	A	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr15:73528785A>C	ENST00000339362.5	+	9	1836	c.1389A>C	c.(1387-1389)gcA>gcC	p.A463A	NEO1_ENST00000261908.6_Silent_p.A463A|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.A463A|NEO1_ENST00000560262.1_Silent_p.A463A			Q92859	NEO1_HUMAN	neogenin 1	463	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGACACCTGCATCAGATCCTC	0.562																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1387-1389)gcA>gcC		neogenin 1							208.0	163.0	178.0					15																	73528785		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528785A>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1389A>C	15.37:g.73528785A>C						NEO1_ENST00000560262.1_Silent_p.A463A|NEO1_ENST00000261908.6_Silent_p.A463A|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.A463A	p.A463A			Q92859	NEO1_HUMAN			9	1836	+			463			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.1389A>C	CCDS10247.1																																																																																				0.562	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		39	68	0	0	0	1	0	39	68				
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000302182.3_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75.0	76.0	75.0					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	80	0	0	0	1	0	4	80				
CLIC6	54102	broad.mit.edu	37	21	36043027	36043027	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr21:36043027T>C	ENST00000360731.3	+	1	1340	c.1340T>C	c.(1339-1341)cTg>cCg	p.L447P	CLIC6_ENST00000349499.2_Missense_Mutation_p.L447P			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	447						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CCCCGGGCCCTGGGGCAGGAG	0.667																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1339-1341)cTg>cCg		chloride intracellular channel 6							12.0	18.0	16.0					21																	36043027		1845	3855	5700	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36043027T>C	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1340T>C	21.37:g.36043027T>C	ENSP00000353959:p.Leu447Pro					CLIC6_ENST00000349499.2_Missense_Mutation_p.L447P	p.L447P			Q96NY7	CLIC6_HUMAN			1	1340	+			447					A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.1340T>C		.	.	.	.	.	.	.	.	.	.	T	6.934	0.542042	0.13250	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.23552	1.9;1.94	4.11	-0.0588	0.13796	.	1.737720	0.03677	N	0.244981	T	0.11580	0.0282	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20107	-1.0285	10	0.23302	T	0.38	0.0	4.2873	0.10862	0.1916:0.3487:0.0:0.4597	.	447;447	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	P	447	ENSP00000353959:L447P;ENSP00000290332:L447P	ENSP00000290332:L447P	L	+	2	0	CLIC6	34964897	0.002000	0.14202	0.001000	0.08648	0.803000	0.45373	0.073000	0.14640	-0.183000	0.10585	-0.292000	0.09595	CTG		0.667	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			9	9	0	0	0	1	0	9	9				
RFX6	222546	broad.mit.edu	37	6	117241512	117241512	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr6:117241512T>C	ENST00000332958.2	+	12	1238	c.1222T>C	c.(1222-1224)Tct>Cct	p.S408P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	408					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTCGTTAATTCTATGGTGTC	0.398																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1222-1224)Tct>Cct		regulatory factor X, 6							215.0	194.0	201.0					6																	117241512		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241512T>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1222T>C	6.37:g.117241512T>C	ENSP00000332208:p.Ser408Pro						p.S408P	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			12	1238	+			408					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1222T>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105267	0.37145	.	.	ENSG00000185002	ENST00000332958	T	0.56941	0.43	5.62	3.17	0.36434	.	0.291447	0.38492	N	0.001666	T	0.22360	0.0539	L	0.33485	1.01	0.39391	D	0.966429	P	0.37176	0.586	B	0.31245	0.126	T	0.03231	-1.1058	10	0.41790	T	0.15	-11.2303	12.9418	0.58350	0.0:0.0:0.4019:0.5981	.	408	Q8HWS3	RFX6_HUMAN	P	408	ENSP00000332208:S408P	ENSP00000332208:S408P	S	+	1	0	RFX6	117348205	1.000000	0.71417	0.995000	0.50966	0.682000	0.39822	2.514000	0.45503	0.378000	0.24764	-0.313000	0.08912	TCT		0.398	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		8	80	0	0	0	1	0	8	80				
CALCR	799	broad.mit.edu	37	7	93090147	93090147	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr7:93090147C>T	ENST00000394441.1	-	7	949	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	CALCR_ENST00000359558.2_Missense_Mutation_p.V246M|CALCR_ENST00000421592.1_Missense_Mutation_p.V228M|CALCR_ENST00000360249.4_Missense_Mutation_p.V228M|CALCR_ENST00000426151.1_Missense_Mutation_p.V212M	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	246					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TCCCTTCGCACGAGCTCTCCA	0.383																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(736-738)Gtg>Atg		calcitonin receptor	Salmon Calcitonin(DB00017)						122.0	120.0	121.0					7																	93090147		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93090147C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.634G>A	7.37:g.93090147C>T	ENSP00000377959:p.Val212Met					CALCR_ENST00000394441.1_Missense_Mutation_p.V212M|CALCR_ENST00000360249.4_Missense_Mutation_p.V228M|CALCR_ENST00000421592.1_Missense_Mutation_p.V228M|CALCR_ENST00000426151.1_Missense_Mutation_p.V212M	p.V246M	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		10	1035	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		228					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.736G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564224	0.65651	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.44	4.56	0.56223	.	.	.	.	.	T	0.53286	0.1787	L	0.54965	1.715	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.986	T	0.52756	-0.8533	9	0.46703	T	0.11	.	13.1172	0.59307	0.0:0.9218:0.0:0.0781	.	246;212	F5H605;A4D1G6	.;.	M	246;228;228;212;212	ENSP00000352561:V246M;ENSP00000353385:V228M;ENSP00000399552:V228M;ENSP00000377959:V212M;ENSP00000389295:V212M	ENSP00000352561:V246M	V	-	1	0	CALCR	92928083	1.000000	0.71417	0.263000	0.24496	0.773000	0.43773	5.070000	0.64376	1.440000	0.47531	0.555000	0.69702	GTG		0.383	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		39	68	0	0	0	1	0	39	68				
TMEFF2	23671	broad.mit.edu	37	2	192863838	192863838	+	Silent	SNP	T	T	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:192863838T>C	ENST00000272771.5	-	6	1817	c.633A>G	c.(631-633)gcA>gcG	p.A211A	AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000392314.1_Silent_p.A211A	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	211	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTGACACGATGCTTCTTTGA	0.368																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(631-633)gcA>gcG		transmembrane protein with EGF-like and two follistatin-like domains 2							152.0	141.0	145.0					2																	192863838		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:192863838T>C	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.633A>G	2.37:g.192863838T>C						AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Silent_p.A211A	p.A211A			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	1024	-			211			Kazal-like 2.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.633A>G	CCDS2314.1																																																																																				0.368	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		28	47	0	0	0	1	0	28	47				
MYO9A	4649	broad.mit.edu	37	15	72338097	72338097	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr15:72338097G>C	ENST00000356056.5	-	2	1280	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	MYO9A_ENST00000564571.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q270E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	270	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAATAATCTGTTCTACTCCA	0.388																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(808-810)Cag>Gag		myosin IXA							71.0	70.0	71.0					15																	72338097		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338097G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.808C>G	15.37:g.72338097G>C	ENSP00000348349:p.Gln270Glu					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q270E	p.Q270E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1280	-			270			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.808C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647305	0.87958	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.70045	-0.45;-0.45;-0.45	5.92	5.92	0.95590	Myosin head, motor domain (2);	.	.	.	.	T	0.77471	0.4135	L	0.43923	1.385	0.80722	D	1	P;D;D	0.56968	0.936;0.969;0.978	P;P;D	0.64687	0.458;0.737;0.928	T	0.77765	-0.2465	9	0.87932	D	0	.	20.3734	0.98896	0.0:0.0:1.0:0.0	.	270;270;270	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	E	270	ENSP00000348349:Q270E;ENSP00000399162:Q270E;ENSP00000398250:Q270E	ENSP00000261864:Q270E	Q	-	1	0	MYO9A	70125151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.773000	0.98989	2.820000	0.97059	0.650000	0.86243	CAG		0.388	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		17	29	0	0	0	1	0	17	29				
ATAD5	79915	broad.mit.edu	37	17	29196386	29196386	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:29196386G>A	ENST00000321990.4	+	13	3812	c.3434G>A	c.(3433-3435)tGt>tAt	p.C1145Y		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1145					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTGTATGCTTGTGCCCAGGAG	0.398																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3433-3435)tGt>tAt		ATPase family, AAA domain containing 5							170.0	158.0	162.0					17																	29196386		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196386G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3434G>A	17.37:g.29196386G>A	ENSP00000313171:p.Cys1145Tyr						p.C1145Y	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			13	3812	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1145					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3434G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595214	0.46318	.	.	ENSG00000176208	ENST00000321990	D	0.92752	-3.1	5.43	5.43	0.79202	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.155460	0.64402	D	0.000011	D	0.95730	0.8611	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.91635	0.908;0.999	D	0.95955	0.8957	10	0.87932	D	0	.	19.2415	0.93886	0.0:0.0:1.0:0.0	.	1145;1145	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	Y	1145	ENSP00000313171:C1145Y	ENSP00000313171:C1145Y	C	+	2	0	ATAD5	26220512	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.326000	0.96389	2.538000	0.85594	0.591000	0.81541	TGT		0.398	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		6	85	0	0	0	1	0	6	85				
YWHAZ	7534	broad.mit.edu	37	8	101960982	101960982	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr8:101960982C>A	ENST00000395957.2	-	3	477	c.136G>T	c.(136-138)Gtt>Ttt	p.V46F	YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000353245.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395956.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395951.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000419477.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395953.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000457309.1_Missense_Mutation_p.V46F|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Missense_Mutation_p.V46F			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	46					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TTATAAGCAACTGAGAGAAGA	0.473																																						ENST00000395957.2																			0				large_intestine(1)|lung(2)	3						c.(136-138)Gtt>Ttt		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	Ginkgo biloba(DB01381)						44.0	49.0	47.0					8																	101960982		2195	4288	6483	SO:0001583	missense	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101960982C>A	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.136G>T	8.37:g.101960982C>A	ENSP00000379287:p.Val46Phe					YWHAZ_ENST00000419477.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395951.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395953.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395956.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395958.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000353245.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000457309.1_Missense_Mutation_p.V46F	p.V46F			P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		3	477	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		46					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	c.136G>T	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940437	0.92526	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293;ENST00000523131;ENST00000523938	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.5	5.5	0.81552	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.64402	D	0.000016	T	0.81870	0.4914	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	D	0.87612	0.2504	10	0.87932	D	0	.	19.4636	0.94929	0.0:1.0:0.0:0.0	.	46;46	D0PNI1;P63104	.;1433Z_HUMAN	F	46	ENSP00000379287:V46F;ENSP00000398599:V46F;ENSP00000379288:V46F;ENSP00000379286:V46F;ENSP00000309503:V46F;ENSP00000379283:V46F;ENSP00000379281:V46F;ENSP00000395114:V46F;ENSP00000430058:V46F;ENSP00000429041:V46F;ENSP00000416551:V46F;ENSP00000394880:V46F;ENSP00000428381:V46F;ENSP00000430219:V46F	ENSP00000309503:V46F	V	-	1	0	YWHAZ	102030158	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.773000	0.85462	2.597000	0.87782	0.650000	0.86243	GTT		0.473	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690		4	91	1	0	0.00909568	1	0.00909568	4	91				
FSIP2	401024	broad.mit.edu	37	2	186678578	186678578	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:186678578T>A	ENST00000424728.1	+	18	20134	c.20134T>A	c.(20134-20136)Ttt>Att	p.F6712I	FSIP2_ENST00000343098.5_Missense_Mutation_p.F6801I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6712										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCTGAAAAAATTTTTGTCACT	0.373																																						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.(20401-20403)Ttt>Att		fibrous sheath interacting protein 2							82.0	79.0	80.0					2																	186678578		1869	4116	5985	SO:0001583	missense	401024							g.chr2:186678578T>A	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.20134T>A	2.37:g.186678578T>A	ENSP00000401306:p.Phe6712Ile					FSIP2_ENST00000424728.1_Missense_Mutation_p.F6712I	p.F6801I	NM_173651.2	NP_775922.2					18	20401	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.20401T>A		.	.	.	.	.	.	.	.	.	.	T	15.00	2.703511	0.48412	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.85	5.19	-8.35	0.00984	.	0.541627	0.16996	N	0.191112	T	0.31167	0.0788	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.25502	-1.0130	8	0.46703	T	0.11	.	5.3446	0.16002	0.1433:0.3158:0.0:0.5408	.	.	.	.	I	6801;6712	ENSP00000344403:F6801I;ENSP00000401306:F6712I	ENSP00000344403:F6801I	F	+	1	0	FSIP2	186386823	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.078000	0.03413	-1.431000	0.01982	-0.280000	0.10049	TTT		0.373	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		27	36	0	0	0	1	0	27	36				
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	2						4	2	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62207360	62207362	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:62207360_62207362delCAG	ENST00000433197.3	-	1	123_125	c.28_30delCTG	c.(28-30)ctgdel	p.L10del	ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						gcagcagcgtcagcagcagcagc	0.793																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(28-30)del		endoplasmic reticulum to nucleus signaling 1				5,14,1499		2,0,1,3,8,745						2.7	1.0			2	0,38,3992		0,0,0,6,26,1983	no	codingComplex	ERN1	NM_001433.3		2,0,1,9,34,2728	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9429,1.2516,1.0274				5,52,5491				SO:0001651	inframe_deletion	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62207360_62207362delCAG	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.28_30delCTG	17.37:g.62207369_62207371delCAG	ENSP00000401445:p.Leu10del					ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	p.L10del	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			1	123_125	-			10						In_Frame_Del	DEL	ENST00000433197.3	37	c.28_30delCTG	CCDS45762.1																																																																																				0.793	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		2	4						2	4	---	---	---	---
